PrecisionMed Magazine May 2024 Edition

Page 1


How CRISPR geneediting therapy freed him from sickle cell disease symptoms


Increasing access to rapid genetic testing



Why it is the future of medicine


A look ahead to event’s debut in the Kingdom of Saudi Arabia

How Dr. Khulood Alsayegh is leading the charge for responsible AI use in healthcare

MAY 2024
In healthcare,

Telling people’s stories brings me great joy. I have always loved learning about others and their journeys, what they enjoy doing, what they’re passionate about, and what drives and motivates them to pursue their paths in life.

In healthcare, telling these stories is more important than ever. In recent years, it’s no secret that public scepticism towards the sector has grown globally, fuelled by negative headlines and, at times, widespread misinformation. Yet, beyond the headlines, there are countless individual stories of incredible dedication and progress that deserve recognition and appreciation.

Don’t get me wrong; accountability is undoubtedly crucial. We need to be able to call out shortcomings when necessary. But we also should apply critical thinking and not tar every company and individual with the same brush, so to speak. It’s important to highlight the successes and positive changes that are shaping the future of healthcare – not just within professional circles, but to a broader audience –to foster understanding and appreciation for the incredible efforts underway.

As a staunch advocate for quality healthcare, I fi nd this region is incredibly exciting. Many individuals in the UAE, wider GCC, and the rest of the Middle East and North Africa possess their own unique story of why they’re doing what they’re doing in the sector. These stories are all contributing to the broader narrative of creativity and innovation, challenge, and transformation in modern medicine.

It’s clear to see that key territories such as Abu Dhabi, Dubai, Riyadh, and Doha are at the forefront of exciting new developments in precision medicine and healthcare as a whole. They are defi ning – and owning – their own narratives, and showcasing to the rest of the world just what they are capable of. It’s beautiful to see progress in localising healthcare as well, including through establishing local healthcare management guidelines based on local data,

increasing local data sets for research, and working towards the goal of “prevention over cure”. Given my own Middle Eastern heritage, I relate to the crucial need for healthcare based on local and diverse data.

Naturally, cross-collaboration should never be underestimated. While the region is eager to set its own standards, there is also a clear recognition of the need for global cooperation, knowledge exchange, and joint efforts to ensure a better and more equitable future for all.

Released to coincide with the third edition of the PrecisionMed Exhibition & Summit (PMES) in the UAE, it gives me great pleasure to introduce to you our latest edition of PrecisionMed International magazine, featuring one of the most impressive fi gures in artificial intelligence (AI) in healthcare in the UAE today. Dr. Khulood Alsayegh has a vision for ethical AI in the region and is working hard to ensure that the technology is used responsibly with the right human oversight.

Dr. Alsayegh will also be presenting a keynote on Day One of PMES UAE 2024, so if you’re reading this beforehand, come and say hello!

Speaking of which, I am delighted to host the main scientific conference at PMES UAE 2024 once again, introducing stellar speakers from the region and beyond, which complements perfectly my passion for telling people’s stories.

The entire PrecisionMed International team hopes you enjoy this issue, and if you have your own story to share, please get in touch.

Until next time!

Rachel McArthur Healthcare Journalist & Managing Editor PrecisionMed International magazine

telling our
ever... PrecisionMed Exhibition & Summit (PMES) and EMERGE 2050 Founder & Managing Director David Stradling Event Director Natasha Hall-Mentink Commercial Director Bilal Saymeh Conference Manager Madre Wilson Marketing Manager Janice Menezes Marketing Manager Shafvan Beary Organised by Smart Planet Media Limited Exhibitions & Conferences PrecisionMed International magazine Managing Editor Rachel McArthur Creative Director Ben White Cover & On The Cover Photography Paul Macleod Editorial Contributors Jennifer Bell, Ahmed El Sherif, Karim Mansour All images © iStock/Getty Images unless supplied by PrecisionMed International magazine, PMES and EMERGE 2050 exhibitors, partners, interviewees and similar. All rights reserved. No part of this magazine may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of the publisher, except in the case of brief quotations embodied in critical reviews and certain other noncommercial uses permitted by copyright law. PrecisionMed International Magazine // May 2024 3 FOREWORD
region’s stories is
important than

Her journey to becoming the first – and only – AI ethics lead

How MGI is at the forefront of frontier science



36. PMES UAE 2024 GUEST KEYNOTE Jimi Olaghere

How CRISPR gene-editing therapy freed him from the symptoms of sickle cell disease


Dr. Ali Tinazli

Chief Executive Officer, Lifespin GmbH, Germany 48. SPECIAL FEATURE Technology

Institute 50. QATAR IN FOCUS Sidra Medicine


Dr. M Walid Qoronfleh and Dr. Sawsan Mohammed


Showcasing the latest innovations from Genetrics, Qiagen, MedSol, and more


82. SPECIAL FEATURE Government Blockchain Association


Featuring Professor Patrick Tan, Executive Director of Precision Health Research, Singapore

90. KSA IN FOCUS Expanded biobanks, education, and genomics research investments… How Saudi Arabia is transforming healthcare


CONTENTS 14 54 36 10 10. GUEST COLUMN Gordon Sanghera Chief Executive Officer, Oxford Nanopore Technologies 12. PREVIEW Illumina Cancer Genomics Summit 14. ON THE COVER Dr.
MENA healthcare 20.
assessor in
PrecisionMed International Magazine // May 2024 5 MAGAZINE HIGHLIGHTS


Welcome to the third UAE edition of the PrecisionMed Exhibition & Summit

s we unite once again for the third edition of the PrecisionMed Exhibition & Summit (PMES) in the United Arab Emirates (UAE), it’s clear to see that the conversation around the potential of precision medicine in the Gulf Cooperation Council (GCC) and wider Middle East and North Africa (MENA) has shifted from industry-focused to more widely and publicly acknowledged. The transformative appeal of precision medicine is no longer just a concept accessible to a select few. It is fast becoming a reality that promises to reshape healthcare in our region and beyond in the years to come.

This year, PMES UAE 2024, held at the Dubai World Trade Centre from 8 to 9 May, stands as an important gathering for healthcare professionals, policymakers, entrepreneurs, innovators and more. We’re absolutely delighted and honoured that the event is once again generously supported by the pillars of healthcare governance in the United Arab Emirates, including the Ministry of Health and Prevention (MoHaP), the Department of Health (DoH) Abu Dhabi, and the Dubai Health Authority (DHA), demonstrating the backing for advancing precision medicine in the Emirates.

Our focus this year is not only on discussing the current state of precision medicine but also on experiencing fi rsthand the innovations shaping its future. From a comprehensive exhibition featuring over 75 cutting-edge technology providers to the openaccess, CME-accredited scientific conference, PMES is the place to be for both knowledge and networking. I highly recommend you make maximum use of the event by downloading the official PMES UAE 2024 app, where you can create your own agenda and share networking requests with your speakers of interest.

It’s a huge honour that the main PMES UAE 2024 conference will be led by some incredible voices from the UAE, including Dr. Asma Ibrahim Al Mannaei, Dr. Khulood Alsayegh, and Dr. Ahmad Abou Tayoun.

Joining us from Saudi Arabia are a number of guests, including Professor Faisal Alsaif of NEOM.

I also have to highlight one guest making his MENA debut at PMES UAE 2024. On the morning of Day One, hear from Jimi Olaghere, a US-based CRISPR recipient whose life was transformed through gene-editing technology. Jimi’s journey from battling sickle cell disease to advocating for gene therapies is a powerful

testament to the potential of these technologies to not just manage but potentially cure complex conditions.


At PMES, we are dedicated to ensuring that groundbreaking medical advances are accessible to all. This commitment is reflected in our open-access approach to our CME-accredited conference, allowing healthcare professionals to benefit from our worldclass scientific conference at no additional cost. This openness is crucial for fostering an environment where knowledge and innovation flow freely, enabling swift adoption of new technologies and practices.


In addition to educational opportunities, PMES UAE 2024 facilitates unparalleled networking. Events like the Precision Nexus stage, Illumina Oncology Summit, and the BioStem Technologies Workshop provide platforms for professionals to connect, share insights, and collaborate on future projects. These interactions often spark the innovations that later become standard treatments, making networking a key component of our summit.

Looking ahead, the vision for PMES and precision medicine in the GCC is clear: to continue breaking down barriers to innovation and education, ensuring that the benefits of personalised healthcare reach every corner of our society. Our journey from a concept to a cornerstone of modern medicine continues, and we invite all stakeholders to join us in shaping the future of healthcare. We hope you enjoy the event.

06 PrecisionMed International Magazine // May 2024 PMES UAE 24



Highlights from latest healthcare announcements in the United Arab Emirates and beyond.



A study by Sidra Medicine, a member of Qatar Foundation, on rare genetic diseases in a wide-ranging and diverse Middle Eastern cohort from Qatar, has been published in the prestigious Genome Medicine journal.

Titled “Burden of Mendelian Disorders in a Middle Eastern Biobank”, the study provides key insights into the distribution of risk for genetic diseases in Qatar, which will help with public health planning for the country’s population and that of the wider region.


PureHealth, the largest healthcare platform in the Middle East, and subsidiary of Abu Dhabi Health Services Company (SEHA), announced the launch of a paediatrics centre in collaboration with the worldrenowned Cincinnati Children’s, ranked rst in the USA for paediatric care.

The study, led by Sidra’s Dr. Khalid Fakhro and Dr. Younes Mokrab in collaboration with the Qatar Genome Programme (QGP), Qatar Biobank (QBB), and Hamad Medical Corporation (HMC), analysed more than 6,000 whole genomes and corresponding health data from Qatar.”


Longevi-City, the world’s rst city dedicated to advancing longevity and wellness launched in the UAE’s Ras Al Khaimah in April.

Under the visionary leadership of His Highness Sheikh Ahmed Bin Faisal Al Qassimi, LongeviCity is set to reshape the landscape of urban living with an unwavering commitment to health, wellness, and longevity.

Dunston Pereira, CEO of the Royal Family O ice, explained: “Longevi-City embodies a bold and transformative vision for urban living, where health and wellness are not mere add-ons but integral to every aspect of community life.

“Our aim is to establish a model for sustainable, healthy, and happy living that inspires cities worldwide.”

Further reinforcing Abu Dhabi’s position as a leading healthcare destination, the announcement followed an earlier approval by HH Sheikh Khaled bin Mohamed bin Zayed Al Nahyan, Crown Prince of Abu Dhabi and Chairman of the Abu Dhabi Executive Council, to establish a specialised medical city dedicated to the health of women and children.


Mubadala Health Dubai, part of the M42 group, has been successfully accredited by the Joint Commission International (JCI) and now displays the coveted Gold Seal of Approval. This signi cant achievement marks a milestone for Mubadala Health Dubai as it attains its inaugural JCI accreditation in a timeframe of less than 18 months since the Jumeirah-based facility opened its doors in October 2022.

“This is a huge achievement serving as a testament to the entire team’s dedication to consistently providing the highest international standards of care to every patient who walks through our doors,” said Safeya Al Maqtari, Acting CEO of Mubadala Health Dubai. “This accreditation rea irms Mubadala Health Dubai’s unwavering commitment to the communities we serve, ensuring comprehensive care delivered by expert hands in state-ofthe-art facilities.”

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Paediatric rare disease: Increasing access to rapid genetic testing

For many paediatric rare genetic diseases, early intervention with therapies or lifestyle modifications can make a significant difference in future quality of life. However, access to timely and accurate genomic information has not been historically possible for many families.

he discovery that something is wrong with a newborn is one of the most heart-wrenching moments faced by a new parent. It’s a scenario that no family anticipates, yet one that can set off a challenging odyssey of medical consultations, tests, and uncertainty.

For many paediatric rare genetic diseases, early intervention with therapies or lifestyle modifications can make a significant difference in future quality of life. However, access to timely and accurate genomic information has not been historically possible for many families.

Fortunately, we are standing at the threshold of a new era in genomic medicine, powered by advances in DNA/RNA sequencing technology.

Rapid innovation in the field is starting to offer families faster answers into the source of a genetic disease and paving the way for more targeted treatments. This is evident in the Middle East region, where groundbreaking research and

collaborations are driving innovation and improving healthcare outcomes.

In recent years, Oxford Nanopore Technologies has had the fortune of collaborating with Al Jalila Children’s Specialty Hospital, where an ongoing pilot programme is assessing the utility of nanopore sequencing in addressing unresolved rare disease cases to support paediatric care.

Dr. Ahmad Abou Tayoun (pictured below), Director of the Genomics Center of Excellence at Al Jalila, has led research for the past two years into the benefits of utilising nanopore sequencing to query the novel genomic and epigenomic variations that have previously been inaccessible with other sequencing technologies.

In a pioneering preprint published earlier this year, Dr. Tayoun’s team’s research showed the benefits of applying nanopore sequencing to support patients of spinal muscular atrophy (SMA), a common recessive disorder with potentially life-threatening outcomes.

GUEST COLUMN 10 PrecisionMed International Magazine // May 2024
“Rapid innovation in the field is starting to offer families faster answers into the source of a genetic disease.”

diagnose with confidence. Although novel gene therapy treatments have been approved for SMA, they are extremely costly, making rapid and accurate screening and genetic diagnostics essential for timely patient treatment.

In Dr. Tayoun’s recent study, scientists used Oxford Nanopore’s portable, real-time sequencing to characterise SMA accurately in less than 48 hours, offering a potential cost-effective, scalable option suitable for broad implementation.

In a separate effort using nanopore sequencing, the recent completion of the Arab Pangenome Reference represents a significant milestone in the journey towards greater genomic equity for Middle Eastern populations. A pangenome is a complete set of genes within a defi ned population. While 99.9% of human DNA is shared between everyone, the remaining .01% is responsible for the full spectrum of human diversity – the specific variants that cause the rare diseases distinct among certain ethnic groups. When the fi rst Arab Pangenome Reference was published last October, Dr. Mohammed Uddin and the team from the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) in Dubai identified 10.68 million population-specific small variants, about 109,000 structural variants and about 840 gene duplications, with 13% implicated in recessive disease. Dr. Uddin and team expect the future clinical application of this reference to “significantly enhance the diagnostic yield for various single gene disorders”.

Examples like this are just the beginning. While there’s much more work to be done, the completion of the reference genome and studies like the one by Dr. Tayoun show early progress towards not only democratising access to genomic data, but also empowering clinicians and researchers to uncover hidden genetic variants and develop tailored interventions for their patients, young and old.

This work holds immense promise for families affected by children with rare genetic disorders. By continuing to harness the power of DNA sequencing, we are committed to working towards a new era of healthcare where every child can some day in the future receive the timely genetic testing and targeted treatment they deserve. Through this, we can unlock the mysteries of the genome and pave the way for healthier, more equitable communities, both in the Middle East and around the world.

Special thanks to Gordon Sanghera for his guest contribution.

GUEST COLUMN Precis ionMed International Magazine // May 2024 11


Don’t miss this event at the Precision Nexus Stage during PMES UAE 2024.

n precision medicine, comprehensive genomic profiling (CGP) is fast cementing itself as a transformative tool in the battle against cancer. This single assay utilises the power of next-generation sequencing (NGS) to assess a wide array of clinically relevant cancer biomarkers. These include single nucleotide variations (SNVs), copy number variations (CNVs), insertions/deletions (indels), fusions, splice variants, and key genomic signatures such as tumour mutational burden (TMB), microsatellite instability (MSI), and homologous recombination deficiency (HRD) [1].

The emergence of CGP has transformed our approach to oncological treatment, enabling us to understand the unique genomic makeup of each patient’s tumour and match them with the most appropriate targeted therapies or immunotherapies [2]. By analysing hundreds of cancer-related genes simultaneously, CGP maximises the chances of identifying actionable alterations, even in cases where traditional single-gene tests or small hotspot panels may miss them [3].

One of the key advantages of CGP is its ability to provide a comprehensive picture of a tumour’s genomic landscape from a single biopsy. This not only optimises the use of often-limited tumour tissue but also reduces the need for multiple invasive procedures [4]. Additionally, the digital nature of NGS data allows for the reanalysis of results as new biomarkers are discovered, without the need for additional biopsies [5].

CGP has demonstrated its clinical utility across a wide range of tumour types. Numerous studies have shown that patients matched with targeted therapies based on their tumour’s molecular profile experience improved outcomes, including higher response rates, longer progression-free survival, and increased overall survival [6,7]. Furthermore, CGP has proven

invaluable in identifying rare and novel biomarkers, such as NTRK fusions, which may be missed by conventional testing methods [8].


In addition to its role in guiding treatment decisions, CGP has the potential to expand access to precision medicine by facilitating patient enrolment in biomarkerdriven clinical trials. By providing a comprehensive assessment of a patient’s tumour profile, CGP can help match them with the most appropriate investigational therapies, thereby accelerating the development of new targeted agents [9].

As the field of precision oncology continues to advance, the integration of CGP into routine clinical practice is becoming increasingly important. This is demonstrated in the growing number of clinical guidelines and recommendations that endorse the use of NGS-based testing for various solid tumour types [10-11].

However, it is crucial to recognise that not all NGS panels are created equal. To unlock the full potential of CGP, it is essential to use large, validated assays that provide sufficient coverage of the genome to accurately assess key biomarkers and genomic signatures [12].

Looking ahead, the combination of CGP with other emerging technologies – such as liquid biopsy – holds immense promise. By analysing circulating tumour DNA (ctDNA) from a simple blood draw, liquid biopsy-based CGP can provide a noninvasive means of monitoring tumour evolution and treatment response, enabling a more dynamic and adaptive approach to cancer care [13].

In summary, CGP is an immensely powerful tool that shouldn’t be underestimated in the practice of precision oncology. By providing a holistic view of a tumour’s genomic landscape, CGP is enabling the

12 PrecisionMed International Magazine // May 2024 ILLUMINA CANCER GENOMICS SUMMIT

identification of actionable alterations, the selection of optimal therapies, and the expansion of access to cutting-edge clinical trials.

As we continue to unravel the complexities of cancer biology, CGP will undoubtedly play a central role in our quest to deliver personalised, effective, and compassionate care to every patient.

As the oncology community convenes at the 2024 PrecisionMed Exhibition & Summit (PMES), let us embrace the transformative potential of CGP and work together to ensure its widespread adoption and accessibility for all patients in the region.

Learn more about CGP at areas-of-interest/cancer/ngs-in-oncology/cgp.

Don’t miss the Illumina Cancer Genomics Summit, taking place at the Precision Nexus Stage during PMES UAE 2024 on 8 May between 10.30am and 2pm. For more information, visit precisionmedexpo. com/illumina-oncology-summit.


1. Frampton GM, et al. Nat Biotechnol. 2013;31(11):1023-31.

2. Schwaederle M, et al. Mol Cancer Ther. 2016;15(4):743-52.

3. Pennel AP, Mutebi A, Zheng-Yi Z, et al. 2019. doi. org/10.1200/PO.18.00356.

4. Yu TM, Morrison C, Gold EJ, et al. 2018 Jan;20(1):20-29.e8.

5. Biernacka A, et al. Cancer Genet. 2016 May;209(5):195-8.

6. Massard C, et al. Cancer Discov. 2017;7(6):586-595.

7. Wheler JJ, et al. Cancer Res. 2016;76(13):3690-701.

8. Drilon A, et al. N Engl J Med. 2018;378(8):731-739.

9. Meric-Bernstam F, et al. J Clin Oncol. 2015 Sep 1;33(25):2753-62.

10. Lindeman NI, et al. Arch Pathol Lab Med. 2018;142(3):321-346.

11. Merino DM, et al. J Clin Oncol. 2020;38(21):2492-2507.

12. Cheng DT, et al. J Mol Diagn. 2015;17(3):251-64.

13. Leighl NB, et al. Clin Cancer Res. 2019;25(15):4691-4700.

ILLUMINA CANCER GENOMICS SUMMIT PrecisionMed International Magazine // May 2024 13


Emirati family medicine consultant Dr. Alsayegh, who is also the DHA’s Head of Clinical Standards and Guidelines, wants to create a difference in how professionals and providers use technology in preventative and precision healthcare.

14 PrecisionMed International Magazine // May 2024 ON THE COVER
PrecisionMed International Magazine // May 2024 15 ON THE COVER

f there’s one topic that has publicly dominated precision medicine and the wider healthcare sector over the past 18 months, it is artificial intelligence (AI). Whilst talk about the technology was no doubt taking place prior to this timeline, it was the launch of ChatGPT on 30 November 2022 that truly brought the technology to the forefront of the industry. Conversations around the potential of generative AI tools such as ChatGPT, and wider AI adoption, have ranged from initial curiosity and praise for its uses, to questions around regulation and whether it will completely annihilate the human workforce.

While some questions have been fuelled by fear of the unknown, others have emerged that are unreservedly valid. For Dr. Khulood Alsayegh, an Emirati family medicine consultant, hers was the question of ethics.

“My interest in ethics in AI emerged from the critical need for safety in healthcare,” she tells us. “In this field, trust is paramount – not just in the doctors but also in the tools we use.”

As AI began to monopolise conversations amongst professionals and providers, Dr. Alsayegh noticed that the details concerning the technology’s implementation in healthcare were somewhat overlooked.

“This led me to consider the essential elements of AI in healthcare: trust, privacy, and inclusivity,” she says. “Privacy is especially critical because health discussions often involve sensitive information that patients expect to remain confidential. Moreover, ensuring AI tools are inclusive and unbiased is crucial, as many are initially developed with Western data, which might not accurately reflect the diverse

UAE [United Arab Emirates] population.”

It was these considerations that drove Dr. Alsayegh to explore the ethics of AI more deeply. Ethics, she explains, had always been a subject of interest to her since her undergraduate studies at the Royal College of Surgeons in Ireland (RCSI).

This intrigue has now resulted in one of her biggest career achievements to date, becoming the first – and only – AI ethics lead assessor within healthcare in the Middle East and North Africa (MENA) region through certification from the Institute of Electrical and Electronics Engineers (IEEE).

Beginning with a foundational course on ethics in AI, Dr. Alsayegh soon found herself wanting to explore more.

“I was motivated to become an assessor to better understand and regulate new technologies from a safety and compliance perspective,” she explains. “During the course, many participated in the exam, but only a few chose to proceed to the assessor level. The process to become an assessor involved several steps, such as an exam, followed by a detailed process that required the analysis of scenarios and cases, detailing how you would apply what you’ve learned.

“This was then followed by an interview with an IEEE representative who evaluated our capability to provide assessment services. I’m very proud, yet humbly so, to say that I became the first AI ethics lead assessor within healthcare in the MENA region. The appeal of being an assessor lies in the ability to act on my knowledge. Understanding AI ethics is crucial, but as an assessor, I can actively contribute and make a tangible impact in the healthcare sector.”


Part of Dr. Alsayegh’s mission in making an impact is knowledge sharing, and this month, the specialist

PICTURED BELOW: Dr. Alsayegh receiving an award from His Excellency Awadh Seghayer Al Ketbi, DirectorGeneral of Dubai Health Authority

16 PrecisionMed International Magazine // May 2024 ON THE COVER

will appear at the 2024 UAE edition of PrecisionMed Exhibition & Summit (PMES) to give a presentation on “Ethics and Regulations in AI”. She will also delve into how AI is the backbone of precision medicine and how regulations can keep up with the everchanging technology.

“The pandemic revealed significant gaps, including a projected global shortage of healthcare providers by 2030, as highlighted by the World Health Organization,” she says. “This shortage is critical as we consider the ageing population and the shift towards precision and preventive healthcare. AI’s potential to support healthcare extends from diagnostics and telemedicine to preventive measures and self-care.”

However, despite the benefits, AI adoption faces challenges like mistrust, privacy concerns, and issues of scalability, particularly in regions where technology access is limited or non-English languages prevail, she states.

“My talk will address these challenges, focusing on the ethical implications and how we can overcome them to build trust. I’ll also discuss strategic partnerships and how we can scale these solutions from Dubai to the broader GCC and beyond, ensuring safety and efficacy. The concept of ‘Back to the Future’ in my presentation refers to learning from the past to better prepare for the future. It’s about understanding our current challenges and opportunities to proactively shape a better healthcare landscape.”

Dr. Alsayegh is also set to share knowledge on ethics in AI through her recent appointment as a course instructor at the MBR School of Government in Dubai.


Sitting down and speaking with Dr. Alsayegh, it is clear that she is tremendously hardworking and

My interest in ethics in AI emerged from the critical need for safety in healthcare... Trust is paramount in both doctors and tools.”

passionate about making a difference in the UAE healthcare landscape. Following her undergraduate studies in Dublin, she began training in international medicine in institutes including St James’s Hospital and Beaumont Hospital.

“These experiences gave me a solid understanding of the Irish healthcare system,” she explains, experiences she was keen to put into practice upon her return to her home city of Dubai. It was in the UAE that she joined a family medicine programme.

“I’ve always been drawn to the communicative and relational aspects of family medicine – it allows for a continuous relationship with patients, covering not just medical but also social and psychological aspects.”

After some time, Dr. Alsayegh was keen to find more specialised challenges, prompting her to move into diabetes care, a condition that is prevalent in the Emirates.

It was during further studies at Cardiff University and Harvard University that led her to exploring the use of technology to remotely monitor diabetic patients in the UAE. This opened the door for her to explore more on technology in healthcare where she joined the health regulation sector via the Dubai Health Authority (DHA) in 2019.

Today, she is the DHA’s Head of Clinical Standards and Guidelines.


Even though less than a decade ago, for those based in the UAE back then, the concept of telehealth was nothing but a pipedream. Skype wasn’t accessible, the likes of Zoom and Teams were not really a reality in the region, and medical video consultation portals essentially did not exist.

“Telehealth was in its infancy then, and upon joining the health regulation sector, my first major project was developing telehealth standards, which involved a comprehensive evaluation and comparison of telehealth practices globally and establishing standards tailored to the UAE’s needs,” Dr. Alsayegh explains. “We also developed the ‘Doctor for Every Citizen’ platform at Rashid Hospital, which was among the first public telehealth services. We initially launched the platform for family doctors to provide online consultations.”

But at a time when video meetings were not the norm, adoption of the platform was low. Then the events of 2020 began to unravel.

“We addressed this by training doctors and involving patients in workshops to understand and alleviate their concerns. The platform’s usage saw a significant increase, especially during the COVID-19

PrecisionMed International Magazine // May 2024 17 ON THE COVER

pandemic, which led to its expansion to all residents, eventually becoming a primary service for many healthcare providers in the UAE.”


Another accolade Dr. Alsayegh can now add to her ever-expanding CV is that of published author.

Following her extensive work in telehealth, she set out to draft local guidelines and has now released “Telehealth Clinical Guidelines for Virtual Management of Diseases”, available in both digital and print via Karger Publishers.

“Initially, we developed guidelines to manage 50 common conditions via telehealth in Dubai, available on the DHA’s website. These were actively used by doctors on the telehealth platform throughout the pandemic,” she elaborates. “The idea to turn these guidelines into a book came from a DHA librarian who recognised the broader potential of this resource. He proposed that we publish it to make it accessible to a wider audience, including residents and international readers.

“We collaborated with Karger, who were intrigued by the structure and suggested organising it into chapters for each condition. With DHA’s sponsorship, we spent the last year revising and updating these guidelines. The book can be used by healthcare providers, interns, residents, and medical students globally.”

For Dr. Alsayegh, telehealth is here to stay.

“While there was a plateau in usage when clinics reopened, we’ve seen a steady increase again. Telehealth continues to evolve, integrating AI and remote monitoring technologies to enhance care and increase accessibility,” she says. “Additionally, expanding into the metaverse could revolutionise telehealth by enhancing training, education, and even medical tourism, allowing virtual visits to hospitals abroad. While it sounds futuristic and is certainly costly, these technologies offer promising avenues for telemedicine enhancement.”


Looking ahead, Dr. Alsayegh sees a vibrant future for AI in medicine.

“AI disruption is evident across all digital platforms, simplifying and improving processes, particularly in healthcare. It’s commonly used for tasks like triaging patients, summarising doctor’s notes, and sending alerts to enhance the treatment journey,” she notes. “One significant application of generative AI in healthcare is in patient and professional education. For regulators and researchers, generative AI facilitates continuous learning by processing large datasets, which improves over time as more data is integrated.

“Another crucial area is triaging. AI can function as a co-pilot, helping assess patient needs quickly and efficiently, which is particularly useful in emergency situations or even inside ambulances. By supporting paramedics, AI can help stabilise and triage patients before they arrive at the hospital, potentially saving lives.”

She also speaks of the role of AI in remote disease management by enabling self-monitoring

It’s essential to ensure that there’s a human element involved to take responsibility... You can’t just blame the AI for errors.”
ON THE COVER 18 PrecisionMed International Magazine // May 2024

for patients at home through smart hospitals and virtual care platforms.

“We’ve explored its use in gamification, where AI can analyse behavioural data from games to deliver health insights, although this area requires careful ethical consideration due to privacy concerns,” she states. “Lastly, AI integrates diverse data streams, such as genetics and biometrics, to provide a comprehensive view of patient health. This capability is beyond the scope of human ability alone due to time and resource constraints, offering a more personalised approach to medicine.”


As for her role as an AI ethics lead assessor, Dr. Alsayegh is keeping busy to say the least. Understandably, she cannot disclose specific projects for confidentiality reasons, but at present, she advises companies on their AI tools and platforms.

“This advice is not just from a regulatory perspective but also ethically,” she notes. “For instance, when a new application is proposed, we first assess whether it meets the needs of our country and if it’s applicable. Beyond that, we delve into various ethical considerations.”

Transparency is a key factor.

“For me, it means understanding the entire process – how data moves from point A to point B in any given platform. It’s crucial that this process is clear, predictable, and explainable. If I can trace the steps backward and forward and understand each transition, then the platform can be considered ethically transparent.”

She also focuses on accountability, questioning the role of human oversight in the AI process.

“It’s essential to ensure that there’s a human element involved to take responsibility if things go awry. You can’t just blame the AI; there needs to be clear roles and responsibilities defined for human operators.”

Another critical area is algorithmic bias, she states.

“We examine whether the AI involved fairly represents the diversity of our society – including different linguistic, cultural, and demographic factors – and whether it can adapt to these varied contexts.

“The ethical use of AI is critical. For example, there are three global AI regulations that focus on ethical issues such as discrimination, which are the EU AI Act, the Canadian Impact Assessment ACT and the AI Bill of Rights.”

Lastly, privacy is paramount.

“We assess who has access to data and under what circumstances. It’s about finding a balance between transparency and protecting personal information to prevent breaches, including deliberate ones, and minimising damage if breaches occur,” she concludes. “These elements – transparency, accountability, bias, and privacy – are intertwined with our health ethics, shaping my approach to assessing and approving AI tools in healthcare.”


Despite her professional commitments, Dr. Alsayegh is passionate about maintaining a rich personal life, filled with painting, interior designing, kickboxing, and scuba diving.

“These activities recharge me and feed into my professional creativity,” she notes.

Travel is also high on the agenda, albeit for both personal and professional reasons. Workwise, this September, Dr. Alsayegh is scheduled to present at the International Hospital Federation’s (IHF) 47th World Hospital Congress (WHC) in Rio de Janeiro, Brazil. This follows her team’s win at the recent 46th WHC in Lisbon last winter.

As the conversation comes to a close, Dr. Alsayegh is positive about the future of preventative and precision medicine in the UAE and the region.

“Healthcare innovation often starts as a dream, and the path to realisation is rarely direct. New challenges and directions constantly emerge,” she states. “But imagine going to the doctor who, instead of telling you about your health based on basic metrics, could provide insights based on your genome? Even more so, envision having this information on your personal device, allowing you to know your health risks and data beforehand. This would transform your visit into a collaborative discussion where you inform the doctor of your needs based on the insights provided by AI.

“Owning and understanding our health data will empower us to have more sophisticated discussions with our healthcare provider. For this to work effectively, the data must be accurate, make sense, and serve individual needs. We need to trust that the information AI provides is reliable. We’re currently in a stage of ‘what ifs,’ where the unknown still holds a lot of power. People often revert to conventional methods because there’s comfort in familiarity.”

However, the future of healthcare is about “personalised, ‘concierge’ care tailored to the individual – not just the population,” Dr. Alsayegh concludes.

“This is where precision medicine and valuebased healthcare intersect. We aim for healthcare that is not only reactive but proactive, focusing on prevention and comprehensive care that continues even after a patient goes home.”

PrecisionMed International Magazine // May 2024 19 ON THE COVER


Returning to PMES UAE this year is MGI, a leading biotechnology company that specialises in genetic sequencing, genotyping and gene expression, proteomics, and more.

head of the event, PrecisionMed International caught up with Dr. Roy Tan, General Manager at MGI APAC, to find out more about the company’s evolution in recent times. Boasting extensive expertise in the genomics and life sciences sector, Dr. Tan is known for his significant contributions to the field, including the groundbreaking Human Genome Project.

In recent years, he has spearheaded MGI’s expansion across the APAC region, enhancing accessibility and adoption of advanced sequencing technology and automation.

“In the sequencer producing area, MGI is one of the few companies in the world that can independently develop and mass-produce low, medium, and high-throughput clinical gene sequencers from GB to TB,” says Dr. Tan.

MGI now operates in more than 100 countries, powering over 6,200 publications across a range of applications.

Welcome back to PMES! How has MGI’s approach or offerings evolved since your last appearance?

MGI has undergone significant advancements since our last appearance at PMES. For example, we launched DCS Lab, which is MGI’s first project aimed at international laboratories focusing on frontier science including DNA genomics, cell omics, and spatial omics. The DCS Lab supports at least 10,000 high-depth whole genome sequencing (WGS) annually, 3,000 single cells, and 480 spatialtemporal transcriptomic chips. It requires only 100150 square metres for a standard lab, with smaller versions fitting into 100 square metres and larger ones extending over 300 square metres. Additionally, our Customer Experience Centre in Brisbane has

been upgraded to include DCS capabilities, providing local researchers in Australia and Brisbane with early access to MGI’s cutting-edge omics technologies.

Secondly, we also announced the strategic expansion of our automation product lines covering sample pre-treatment, sample preparation and integrated testing, which will enhance efficiency and precision in genomic research and analysis.

Our achievement of reaching Q40 sequencing quality by introduction of the Standard MPS 2.0 (SM 2.0) update to DNBSEQ™ platforms signifies a major milestone, demonstrating our commitment to pushing the boundaries of genomics technology.

Our entry into the MENA region began with the establishment of our first team in Dubai in 2019. Over the past six years, we’ve seen a surge in strategic partnerships, underscoring our commitment to providing advanced sequencing technology and elevating the standard of healthcare in the region. For example, we collaborate with Prepaire Labs, an Abu Dhabi-based company focused on revolutionising drug discovery and precision medicine, to harness DNBSEQ-T20 x2’s ultra-high throughput and great cost-efficiency for understanding and treating diseases at a personalised level, and with Dante Labs, a leading global genomics and precision medicine company to increase access to advanced genomic technologies throughout the Middle East region.

What are MGI’s primary objectives for attending PMES UAE 24 this year?

At PMES UAE 24 this year, our primary objective is to introduce the latest in genomics and our cutting-edge DNBSEQ sequencing technology to the Middle East. We aim to connect with users to better understand their research needs and challenges.

In conjunction with the launch of our DCS Lab initiative, we will showcase our DCS technologies,

20 PrecisionMed International Magazine // May 2024 THE PMI INTERVIEW // MGI

The integration of genomics, transcriptomics, proteomics, spatial omics, and epigenetic data o ers a holistic view of genetic conditions and mutations, providing crucial insights, particularly in oncology.”

including our sequencing and automation platforms, and our new Automated Single-cell Droplet Generator – the DNBelab C-TaiM 4. This tool enhances precision in cell separation and labelling. Our unique STOmics Stereo-seq technology also offers a revolutionary approach to spatial biology, allowing detailed transcriptome analysis at multiple levels with fresh frozen tissue samples.

Our product portfolio demonstrates MGI’s commitment to supporting scientific research and enhancing healthcare outcomes through innovations in genomics.

How do you see multiomics advancing the field of precision medicine? What are the most promising applications you’re currently exploring?

The integration of genomics, transcriptomics, proteomics, spatial omics, and epigenetic data offers a holistic view of genetic conditions and mutations, providing crucial insights, particularly in oncology. This multidimensional data approach empowers healthcare professionals to pinpoint potential

THE PMI INTERVIEW // MGI Precision Med International Magazine // May 2024 21

targets and customise treatments, transforming cancer prevention and care. We are committed to advancing these applications to push the boundaries of precision medicine.

Our solutions extend across various fields. In human health, we utilise precise diagnostics protocols; in agriculture, we apply specialised protocols for research purposes; and in microbiology, our technology accurately identifies species composition, such as in studies of the intestinal microbiota.

What are the biggest challenges you face in developing and implementing multiomics technologies, especially in diverse markets like APAC and MENA?

Developing and implementing multiomics technologies in diverse markets like APAC and MENA presents unique challenges. Firstly, the cost of sequencing applications remains relatively high, posing a hurdle to widespread adoption. Secondly, there is still considerable ground to cover in terms of increasing awareness and understanding of genomics and its impact on healthcare within these regions. We are now putting efforts to address cost barriers while simultaneously driving awareness and education initiatives to elevate the understanding of genomics and its potential in advancing healthcare across APAC and MENA.

How do you foresee collaborations between biotechnology companies and medical professionals evolving, particularly in the context of precision medicine?

Collaborations between biotechnology companies and medical professionals are poised to evolve into even closer partnerships. Biotechnology fi rms will continue to provide vital instrumental support, aiding medical professionals in clinical diagnostics and drug discovery. Simultaneously, medical professionals will offer crucial feedback, informing and enhancing the development of technology and products. This symbiotic relationship will lead to a more seamless integration of cuttingedge technology into clinical practice, resulting in improved patient care and more effective treatments within the realm of precision medicine.

Looking towards the future, what are the next big steps for MGI?

We are focusing on increasing sequencer capacity to enable large-scale sequencing, which will reduce costs and enhance data accuracy and stability. Additionally, we plan to expand into storage solutions, offering complete support across the entire life science research process. These initiatives demonstrate our commitment to advancing multiomics research and improving healthcare applications through innovative technology and robust support solutions.

The healthcare industry is evolving rapidly, with precision medicine set to lead its future development. Through advanced gene sequencing, the precise detection and management of birth defects, tumours, and infectious diseases are becoming increasingly feasible. Sequencing technology, fundamental to precision medicine, is crucial in both research and clinical diagnosis. By analysing the complete genome from a blood sample, we can extract vital genetic information to foresee potential health issues. As a premier manufacturer of sequencing instruments, we are dedicated to delivering a high-quality, efficient, and accessible genetic testing platform for researchers and clinicians. This technology not only aids in tumour prevention and diagnosis but also expedites cancer research, propelling us towards more effective treatments.

Learn more at

22 PrecisionMed International Magazine // May 2024 THE PMI INTERVIEW // MGI

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The company’s CEO, Mohammed Uddin, explains how GenomeArc’s Horizon is changing the face of precision medicine through the seamless integration and automation of data.

enomeArc, a pioneering biotechnology company, is helping transform personalised medicine with its groundbreaking genome interpretation platform Horizon.

Exhibiting for the fi rst time at this month’s PrecisionMed Exhibition & Summit (PMES) UAE 2024, company founder and CEO, Mohammed Uddin, explains how Horizon leverages genomic sequencing to provide unparalleled insights into human health and disease.

“Horizon is entirely our creation, an exclusive ownership that is ours,” says Uddin regarding the proprietary nature of the product.

Inspired by sci-fi technology, GenomeArc conceptualised using the genome itself as a diagnostic tool, much like the laser body scans depicted in Star Wars. According to Uddin, Horizon identifies clinically relevant genetic variants, including those related to pharmacogenomics and disease prevention.

At its core, Horizon is an AI platform that analyses genomic data with unrivalled accuracy and speed.

The secret, says Uddin, lies in GenomeArc’s databases that enhance Horizon’s precision in pinpointing disease-causing mutations.

“This precision is crucial, especially in critical care scenarios like in neonatal intensive care units (NICUs), where quick and accurate diagnoses can significantly influence treatment outcomes,” Uddin explains.


Horizon’s impact is most profound in acute clinical settings. In NICUs, Horizon can rapidly identify genetic mutations causing infant conditions, facilitating targeted interventions.

Uddin estimates that in such critical care settings, about 30% of newborns may have a genetic mutation causing their condition.

“This precision is crucial, especially in critical care scenarios like NICUs, where quick and accurate diagnoses can significantly influence treatment outcomes,” says Uddin.

This capability also benefits cancer patients and those with genetic disorders like cystic fi brosis.

“Horizon empowers clinicians with diagnostic and therapeutic insights and provides scientists with a tool for discovery,” he continues.


One of Horizon’s key USPs is the ability to tackle a major bottleneck in clinical genomics – the timeintensive process of analysing genomic data.

“The time factor in diagnostics is crucial,” explains Uddin. “Despite genome sequencing

24 PrecisionMed International Magazine // May 2024 THE PMI INTERVIEW // GENOMEARC

being rapid, the bottleneck has always been in data analysis. Horizon addresses this by providing diagnostic results within 25 minutes for the entire genome, which is revolutionary in situations where time-sensitive interventions are critical.

“We take the time factor very seriously. For every gene mutation, we identify which tissues express that gene at the RNA and protein levels and determine the target cell types. This approach is crucial for implementing precision medicine, as genes are expressed differently across cell types.”

Horizon also assists when the disease is unknown, he says.

“It includes a language model that allows clinicians to input symptoms in an unstructured format. like typing in a document. Horizon then uses this information to predict possible diseases and check the patient’s genome for relevant genes associated with these conditions.”


The innovative integration of phenotypic data and AI enables the platform to diagnose rare diseases, of which there are over 4,000 globally.

GenomeArc continuously updates Horizon’s databases by integrating the latest research findings.

“For instance, if a new mutation is identified in Brazil and documented in a research paper, our team will update our database accordingly. This enables faster and more accurate diagnosis for any future patient exhibiting the same mutation,” Uddin explains. By combining frequently updated datasets, advanced algorithms, and phenotypic information, Horizon addresses the ongoing problem of unresolved Variants of Uncertain Significance (VUS) in genomics.

Horizon’s primary clients include healthcare institutions, pharmaceutical companies, and research institutes globally. Notably, GenomeArc does not handle patient samples directly.

“We provide the software. If you’re a clinician with access to a genomic sequencing lab, you would install

ABOVE: Horizon leverages genomic sequencing to provide unparalleled insights into human health and disease

our software on your server and input the genomic data. It operates securely offline without any internet communication,” describes Uddin.

GenomeArc is also expanding Horizon beyond genomics to process other omics data.

“For every gene mutation, we identify which tissues express that gene at the RNA and protein levels and determine the target cell types. This approach is crucial for implementing precision medicine, as genes are expressed differently across cell types,” says Uddin.

By integrating layers of multi-omics data, Horizon delivers a comprehensive solution for germline analysis, family analysis, tumour profiling, and liquid biopsy.

Commenting on the emerging field of liquid biopsy, Uddin confirms that Horizon contains a dedicated module.

“Although our understanding of cell-free DNA and its variants is still evolving, we’re continuously enriching our database to improve our interpretative capabilities,” he states. Since liquid biopsies allow frequent tumour monitoring, Uddin envisions this will likely become the most widely used genomic test for cancer care.


Looking ahead, Uddin highlights the vast possibilities in computational genomics, including analysing whole genomes on mobile devices within minutes.

He also emphasises the importance of genetic nondiscrimination legislation, advocating for policies to protect individuals in regions like the UAE.

GenomeArc, says Uddin, aims to steer genomics into an era of enhanced speed, accuracy, and integration. By unravelling the complexities of the human genome, this pioneering platform aims to unlock insights into human health and personalised medicine as never before.

Learn more at

THE PMI INTERVIEW // GENOMEARC PrecisionMed International Magazine // May 2024 25


n the haematology department at Paris’s Hôpital Saint-Antoine, a revolution is underway.

There, Dr. Faten Hsoumi – an oncohaematological cytogenetics expert at the hospital’s haematology department – and her colleagues are pioneering the use of a cutting-edge technology called optical genome mapping (OGM), developed to transform the diagnosis and treatment of complex diseases like leukaemia.

Developed by Bionano – a global leader that specialises in genome analysis – OGM provides a comprehensive view of structural variations across a patient’s genome, which can be critical in understanding diseases, such as cancer, that can be driven by genomic alterations.

Bionano appears at this year’s UAE edition of the PrecisionMed Exhibition & Summit (PMES) in Dubai this month.


As Dr. Hsoumi explains: “OGM can scan the entire genome in a single assay. High molecular weight DNA fragments are labelled at specific sites, then stretched in a microfluidics system. Images of the labelled DNA are then captured and processed to reconstruct the patient’s ‘de novo’ genome.

“This genomic profi le is then compared to a reference to identify balanced and unbalanced chromosomal rearrangements.”

According to Dr. Hsoumi, OGM enriches the panel of explorations beyond traditional cytogenetic techniques like karyotyping – an image of an individual’s chromosomes that allows geneticists to examine the number, size, and shape of

In its own words, Bionano is “transforming the way the world sees the genome”. Here’s how one Parisbased healthcare expert is utilising the company’s technology to transform the diagnosis and treatment of complex conditions such as cancer.

26 PrecisionMed International Magazine // May 2024

chromosomes to check for abnormalities – and fluorescence in situ hybridization (FISH) probes. These are fluorescently labelled DNA sequences that bind to specific genes or regions of chromosomes, allowing the visualisation of where genes are located on chromosomes to aid in genetic mapping.


While powerful, traditional methods have limitations in resolution and cannot provide a genome-wide perspective.

rearrangements involving genes like MLL and TCF3 that evaded detection by karyotyping and FISH. By elucidating the full spectrum of alterations, OGM enables more informed therapeutic choices.

“These fi ndings have led to adjustments in therapeutic strategies, such as the selection of targeted therapies that specifically address the genetic abnormalities identified, thereby improving patient response rates and survival outcomes,” she explains.

“Karyotype was considered to be the ‘goldstandard’ technique for the cytogenetic diagnosis of acute leukaemia,” says Dr. Hsoumi. “But it has a very limited resolution, it doesn’t show small rearrangements and is unable to identify gene fusions. FISH probes came as a supplementary tool to identify cryptic abnormalities. But it is a targeted technique, so we only see what we search for.”

In contrast, OGM allows “genome structural variations direct visualisation, which are often


Recognizing OGM’s immense potential, Hôpital Saint-Antoine plans to expand its use to related haematological diseases like myelodysplastic syndromes (MDS) and hypereosinophilic syndrome (HES). By surveying the genomic landscape of these diseases more comprehensively, OGM can help distinguish subtypes, tailor treatment approaches, and elucidate novel therapeutic targets.

“OGM has completely transformed the work ow in our lab as we reduced the use of FISH probes and completely stopped using CGH arrays for micro rearrangements.”

Dr. Hsoumi also notes the future potential of OGM, stating: “One aspect that’s worth emphasising is the potential of OGM to revolutionise cancer research and patient care by enabling the detection of novel biomarkers and therapeutic targets.”

crucial in understanding and diagnosing complex diseases like acute leukaemia, where multiple, often complex, genetic alterations can occur,” she adds. Hôpital Saint-Antoine acquired Bionano’s OGM technology in 2022 and worked to integrate it into routine diagnostics by mid-2023.


Dr. Hsoumi describes the impact: “OGM has completely transformed the workflow in our laboratory as we reduced tremendously the use of FISH probes and completely stopped using CGH arrays for micro rearrangements. This has enabled us to provide faster and more precise cytogenetic diagnosis.”

With OGM, the team can diagnose patients more rapidly and gain deeper insights into the genomic underpinnings of each patient’s disease.

As Dr. Hsoumi notes, “Faster results mean faster start of targeted treatments. And more precise abnormalities mean a better risk stratification and prognosis for each patient, thus enhancing personalised medicine strategies for our patients.”

Beyond faster results, OGM is also uncovering disease mechanisms previously hidden to traditional techniques. Dr. Hsoumi shares examples of paediatric leukaemia cases where OGM identified cryptic

Her own journey with OGM began four years ago, with her mentor, with Dr. Laila El Khattabi, in constitutional disease research, where she saw fi rsthand OGM’s unique ability to identify large structural variations missed by other methods –critical insights for diseases like neurodevelopmental and fertility disorders.

“The primary advantage is the ability of OGM to identify large-scale structural variations that might be missed by other genomic technologies like whole-genome sequencing, which is crucial for diseases where such variations play a significant role,” she says. “OGM can also easily detect balanced rearrangements, such as reciprocal translocations and chromosomal inversions which are impossible to identify by CGH array.”


As part of the French OGM Group (FrOGG), Dr. Hsoumi now works to spearhead OGM’s integration into clinical practice across France. This collaborative group aims to standardise OGM use, foster research, and educate the medical community on leveraging this technology to deliver precision medicine.

Ultimately, OGM represents a critical shift in unlocking the genomic underpinnings of disease. As Dr. Hsoumi emphasises: “The ability to understand the full spectrum of genetic alterations in diseases not only helps in current clinical decision-making but also paves the way for the development of new therapeutic strategies and drugs, marking a significant step forward in the era of genomic medicine.”

Learn more at THE PMI INTERVIEW // BIONANO PrecisionMed International Magazine // May 2024 27


Dr. Kathleen Barnes, SVP for Population Health and Precision Medicine at Oxford Nanopore Technologies tells PrecisionMed International about the company’s recently established business unit and what it means for healthcare as we know it.

iven its remarkable achievements so far, it’s hard to believe that the UK’s Oxford Nanopore Technologies has only been on the scene for nearly two decades. Celebrating its 20th birthday next year, the biotechnology giant has stood out with several significant achievements in DNA and RNA sequencing, including its groundbreaking MinION sequencer. The company’s real-time and long-read sequencing capabilities have enabled it to contribute to a plethora of research and public health initiatives, including the rapid sequencing of the coronavirus during the COVID-19 pandemic.

Beyond the MinION, Oxford Nanopore has also developed larger benchtop sequencers like the GridION and even larger, high-throughput sequencers like the PromethION. These devices have catered to various scales of genomic research with applications in fields ranging from environmental research to cancer genomics.

And now, the company has set its sights on advancing precision medicine and population health, with the recent establishment of a specialist department dedicated to related technology. At the helm is Dr. Kathleen Barnes, a seasoned US-based scientist who is one of the key global figures helping shape precision medicine today.

“Oxford Nanopore Technologies is often associated predominantly with metagenomics and sequencing pathogens, but our role in precision medicine extends far beyond that,” Dr. Barnes tells us, ahead of the company’s appearance at PrecisionMed Exhibition & Summit (PMES) UAE 2024.

The Senior Vice President for Population Health and Precision Medicine highlights a recent study that showcased “our platform’s capability in developing an assay for comprehensive variant analysis in spinal muscular atrophy (SMA)”, a condition particularly relevant in the Middle East.

“Our technology is also making significant strides in NICU [neonatal intensive care unit] screening, where it’s been used in the U.S. by leading providers at major academic institutions,” she continues.

“They have demonstrated the ability to sequence a genome of a NICU baby in just a day or two, swiftly identifying the genetic causes of illnesses.

“Furthermore, we’ve been developing rapid screening panels for BRCA1 and BRCA2 – essential for breast cancer risk assessment – plus, another groundbreaking application of our technology is in surgical settings, such as during brain surgery for real-time, methylation-based tumour classification.”

Needless to say, Dr. Barnes and her team are busy.

“We’re actively expanding our impact in precision medicine, with powerful, real-world applications that are transforming how we treat various conditions.”

Educating health systems, particularly those at decisionmaking levels, as well as engaging payers, is essential.”

Read on for more highlights from PrecisionMed International ’s chat with Dr. Barnes.

Beginning with the basics… How would you personally define population health? Always a great question! We define population health as the health outcomes and status of a group of people, rather than just

28 PrecisionMed International Magazine // May 2024 THE PMI INTERVIEW // OXFORD NANOPORE

1: Oxford Nanopore Technologies has developed larger benchtop sequencers like the GridION and even larger, high-throughput sequencers like the PromethION

the individual. This includes evaluating health determinants such as inequalities and how health is distributed across subpopulations, as well as the interventions and policies that connect these determinants to health outcomes. A key goal of population health is to enhance overall health through the early detection of disease risk, in part through precision medicine tools.

In contrast, precision medicine – also referred to as personalised medicine – takes into consideration the individual’s genetic makeup, and environmental and behavioural factors. It involves using tools to proactively or reactively predict or diagnose diseases, determine how someone responds to a drug, or make targeted decisions in fields like oncology.

This exciting era is being referred to as “Medicine 3.0” – a term coined by [longevity author, physician, and researcher] Peter Attia – because we’re moving beyond Medicine 2.0, which has been the standard since the advent of antibiotics, focusing primarily on treating patients reactively. Medicine 3.0 shifts towards a proactive approach.

So just how can precision medicine be deployed to manage population health?

Starting with preconception. We’re using precision medicine at scale with carrier screenings to prevent devastating recessive disorders during the prenatal

period. As we move into the newborn stage, we’re beginning to see an uptake in expanded screenings for conditions that require immediate intervention, even in the NICU.

Into childhood, we consider screening for conditions that might affect health or development, tailoring medical care and educational support accordingly. In young adulthood, precision medicine helps identify predispositions for high-risk cancers and heart disease.

As individuals enter middle age and beyond, we think about polygenic risk scores. Unlike single, highly penetrant variants like BRCA1 or BRCA2, polygenic risk scores consider multiple genetic variations that together contribute to disease risk but individually may not be significant.

This evolving knowledge base is crucial for understanding health risks at every stage of life, demonstrating the broad and impactful implementation of precision medicine across the lifespan.

As head of the new population health and precision medicine department at Oxford Nanopore, what’s your vision and mission? Oxford Nanopore has already made exceptional achievements in the space of population health and precision medicine, even before the creation of this new business unit. Our technology is pivotal in genomic screening for rare diseases, especially in paediatric populations, and in sequencing for hereditary cancer risks. A unique application of our technology is in metagenomics, or sequencing for current infections.

What sets Oxford Nanopore apart is our capability to enable sequencing “by anyone, anywhere”, using portable devices that can deliver rapid results directly at the patient’s bedside within hours rather than days or weeks. This portability and speed distinguish our technology, making it possible for any clinical laboratory around the world to set up our platform affordably and easily without an advanced degree to run it.

My vision aligns closely with the company’s goal to improve health and quality of life for every individual, their family, and community, all through precision medicine tools. The mission of this initiative is to accelerate the adoption of Oxford Nanopore at the point of care by empowering health systems, providers, and individuals to access these tools throughout a patient’s life journey.

1 THE PMI INTERVIEW // OXFORD NANOPORE PrecisionMed International Magazine // May 2024 29

Health equity is a key component of Oxford Nanopore’s objectives… Focusing on the MENA, it is no secret that much of the existing healthcare data we rely on originates from studies predominantly involving Caucasian males. Considering the role of ancestry in disease susceptibility, who should we be collaborating with to improve data sets?

This topic is near and dear to my heart, as I’ve spent much of my career in academic research focusing on population genetics and genetic epidemiology. Despite the decreasing costs of sequencing the human genome, there remains a significant lack of knowledge about our genetic diversity. The vast majority of research and, by extension, clinical databases still predominantly represent European ancestries and, more specifically, males as you noted – about 95%.

This dearth of diverse genetic data hampers our ability to offer pre-emptive, personalised care to varied populations because we often lack understanding frequencies of disease-associated variants – whether that’s risk for cancer or cardiovascular disease – amongst diverse groups.

To address this, we must start by engaging diverse populations in biomedical research right from the beginning. This involves entities like the NIH, the NHS, and similar health organisations in other countries. They must prioritise promoting research participation across all demographics.

Additionally, we need a shift in how we handle and utilise the genetic information once collected, particularly in clinical databases like ClinVar and in areas such as pharmacogenomics. It’s crucial to update these databases to reflect the relevance of certain genetic variants across different ancestries, acknowledging that a variant significant for one population may be irrelevant for another in how they respond to a medicine, for example.

It starts at the very top with government mandates for the inclusion of diverse populations in biomedical research, setting the foundation for broader, more equitable health insights and treatments.

When do you think we are going to see the mainstream adoption of precision medicine?

It’s a fun question! I’m an eternal optimist; we’ve been discussing the potential of genomics since the sequencing of the human genome decades ago. Imagine a future where everyone’s genome is sequenced at birth and integrated into an electronic health record that travels with them? This concept points towards the democratisation of genetic data, enabling us to access vital health information throughout an individual’s life.

Although the costs of sequencing are dropping, there are significant challenges to this vision, varying by country due to differences in healthcare systems, such as who pays for genome sequencing. Nonetheless, I believe we’re on the cusp of integrating precision medicine more fully. For instance, pharmacogenomics could become as common in our records as allergy information.

I’m very optimistic that we’ll see near-

term successes with these tools, including pharmacogenomics, multi-cancer early detection tests, and newborn screening for suspected genetic diseases. While having everyone’s genome in their health record from birth might still be a way off, I believe we’re moving towards making these technologies standard care sooner rather than later.

Finally, in territories reliant on private healthcare, how can we prevent genetic discrimination in determining premiums? It’s a bit cliché, but it truly does take a village. Educating health systems, particularly those at decision-making levels, as well as engaging payers, is essential. This is complex because payer systems vary significantly across the world. It’s crucial to inform these key stakeholders not only of the human cost but also the financial implications.

For instance, adverse drug reactions are the fifth leading cause of death in the U.S., a statistic many are unaware of. Pre-emptive pharmacogenomics could reduce these reactions and associated deaths by approximately 35%, representing substantial savings in both dollars and lives.

Consider NICU screenings. The U.S. sees almost 500,000 NICU admissions annually, costing over $17 billion. Genetic conditions account for about a third of these admissions. Rapid genetic testing could drastically cut costs – more than $14,000 per child tested – and reduce overall healthcare expenses.

We’re at a point where we can clearly demonstrate cost savings and improved quality of life. But we shouldn’t solely burden healthcare providers, who are already overwhelmed. In pharmacogenomics, clinical pharmacists are eager to take on roles that support physicians, allowing for a team-based, multidisciplinary approach.

This strategy can help fully integrate precision medicine, illustrating that the responsibility doesn’t rest solely on one provider. This approach could significantly optimise how healthcare systems operate and improve patient outcomes.

Learn more at 30 PrecisionMed International Magazine // May 2024 THE PMI INTERVIEW / OXFORD NANOPORE

We hope you have enjoyed the May 2024 edition of PrecisionMed International magazine. Our team has worked tirelessly on getting the most relevant content to you, we’ll continue to do so for the years to come.

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Your PMES 24 scientific community


Director of Al Jalila Genomics Center at Al Jalila Children’s Hospital (AJCH), and Associate Professor of Genetics at the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU)


Senior Scientist & Associate Professor, Qatar Biomedical Research Institute


Genomics & Molecular Biotech Senior Director, Technology Innovation Institute (TII) UAE



Chief Science O icer and Director of Genomic Medicine, and Senior S&T Advisor, Healthcare at Sanimed International Lab and Management (UAE) – an International Holding Company


Chair of Genetics and Genomics Department at the College of Medicine & Health Sciences at UAE University


Chief Research O icer, and Director of the Precision Medicine program, Sidra Medicine


Pharmacy Director & Head of Personalised Medication Management Unit, Children’s Cancer Hospital Egypt (57357)


Researcher, Biotechnology Research Centre (BRC), Technology Innovation Institute (TII) UAE / Chairman, UAE Stem Cell Society


VP, Molecular Biotech and Genomics for the Biotechnology Research Center at the Technology Innovation Institute (TII), UAE


Professor of Pharmacogenomics & Pharmaceutical Biotechnology, University of Patras, and adjunct professor at Erasmus University Rotterdam and UAE University

PrecisionMed International Magazine // May 2024 35 PMES UAE 24


From enduring chronic pain for the majority of his life to now planning to climb Mount Kilimanjaro this winter, Jimi Olaghere’s extraordinary story epitomises the value of hope, determination, and the incredible potential of precision medicine and its technology.

imi Olaghere’s transformation in recent years is nothing short of extraordinary. In his own words, the 38-year-old US-based entrepreneur’s life has evolved from one where he was “essentially bedridden” to now “preparing to climb the highest peak in Africa”.

And it’s all down to the effects of a groundbreaking gene-editing therapy that has rendered him free of the symptoms of sickle cell disease, a condition he has known – and battled – for the majority of his life.

Today, Olaghere is preparing to make his fi rst trip to the Middle East and North Africa (MENA) to present his story to the public as part of a keynote at the PrecisionMed Exhibition & Summit (PMES) UAE 2024. His journey is one that demonstrates the power of resilience and the promise of modern precision medicine, offering hope to many around the world also affected by the condition.


Sickle cell disease is a group of inherited disorders that affect the haemoglobin, causing sickle-shaped red blood cells that are unable to efficiently deliver oxygen to tissues. Diagnosed at birth, Olaghere began noticing the symptoms of the condition as a young child.

“You notice that you’re different, but you can’t put a fi nger on exactly why,” he says. “In my case, it was [when] I played football. I couldn’t keep up with my friends; I’d get tired. [Yet] when the disease came full-blown as a young adult, I was shocked as to how serious it was.”

As a teenager, Olaghere moved to the US from Nigeria to study. The change in climate exacerbated the disease. He went on to experience chronic pain and even organ damage.

“It really affected my quality of life to the point where I came very close to losing my life on many occasions.”

36 PrecisionMed International Magazine // May 2024

Worse was that he struggled to fi nd healthcare providers who took his symptoms seriously.

“That was a constant struggle up until the very end, if I’m honest, because of the way the disease is viewed in the US,” he says. “Typically affecting people of colour, who are – for lack of a better word – back of the line with everything in the US. It was a struggle getting good quality healthcare.”


Fast forward to adulthood, getting married and planning a family, it was a move from New Jersey to the South in search of warmer weather that marked a turning point for Olaghere.

“A lot of things really just fell into place,” he says. With a mission to improve his quality of life, Olaghere set out to research therapies when he happened upon an NPR article about Victoria Gray, the fi rst person to have received a CRISPR-based therapy for sickle cell disease, developed jointly by CRISPR Therapeutics and Vertex Pharmaceuticals. This discovery prompted him to contact the research team.

“As luck would have it, the head researcher called back the next day to speak and figure out if I qualified. I read the article in September or October of 2019; by November, we were in Nashville where the trial took place. By December, they confi rmed that I qualified, and we began in January of 2020.”

Coinciding with the global pandemic, Olaghere was able to continue his treatment due to his proximity to the trial location in Nashville.

“The process was halted for many, but since I lived relatively close, I could drive, which moved me from patient number 16 to number four,” he explains.

The treatment – which has now received various approvals in the UK, US and Saudi Arabia – involved extensive preparation, including blood transfusions and the collection of stem cells to edit externally in the lab, followed by chemotherapy to “wipe out old bone marrow and [prepare] for new stem cells”. One session of stem cell collection took eight hours.

An immensely long process that lasted for months, Olaghere fi nally received his infusion of edited stem cells, a process that took mere minutes.


Find out more about Jimi Olaghere’s September ascent of Mount Kilimanjaro and his fundraising e orts to nance newborn screening programmes across Africa, ensuring every child has access to the care they deserve.

PICTURED: Olaghere on one of his many hikes, in preparation for Mount Kilimanjaro

He very quickly started to see the difference.

“A few weeks after, I noticed that pain was gone.”

That pain has not come back since.

Now part of a 15-year follow-up study, Olaghere has faced no significant side effects, and his new-found energy levels has prompted him to train to climb Mount Kilimanjaro to raise awareness and funds for those affected with the same disease in Africa.

“I’m going to be the fi rst patient to ever ascend to those altitudes. Technically I still have sickle cell, even though I don’t feel it anymore. But I think I’ll be okay!”


During his MENA visit, Olaghere is also keen to raise awareness of the urgent need to make treatment accessible to all. At an estimated US market price of $2.2 million, it’s not an easy cure to come by.

“The way I see it working is through the advancement of the technology,” Olaghere explains.

“The clinical trial I went through was ‘ex vivo’, which means everything happened outside of my body; they extracted my cells and they edited them in the lab. But I know that biotech companies are working on ‘in vivo’ where the editing can happen within the body. Technologies like in vivo would eliminate the logistical challenges that come with a trial of this magnitude where you could just take a syringe and fly it anywhere across the world and infuse someone with CRISPR.”

In the meantime, Olaghere’s advice for those with the same condition is to research, research, research.

“Sickle cell is a really tough disease, and carriers tend to want to give up, because of how hard it is. It is a massive burden to carry,” he says. “My advice is just do what I did, because there are now many options on the market [in terms of] clinical trials.

“Sickle cell is having this red carpet moment, and I hope it’s not a flash in the pan. I hope [researchers] will continue to develop technologies, medications, and therapies to make it easier, and – eventually like polio –completely eradicate the disease.”

PrecisionMed International Magazine // May 2024 37 PMES UAE 24


Dr. Min S Park shares his journey from a chance meeting to being part of a regional movement in personalised precision medicine, highlighting his dedication to democratising healthcare through collaboration

For Dr. Min S Park, establishing a positive future for precision medicine involves passion, commitment, and most importantly perhaps, a no-nonsense, transparent approach. As we meet at his Abu Dhabi office, the Chairman of the Scientific Committee for PrecisionMed Exhibition & Summit (PMES) outlines how progress and the determination to change healthcare for the better should always outweigh commercial gain. If he senses someone is “just in it for the money”, then he’s not interested.

It was this shared mindset that resulted in an effective and encouraging working relationship with PMES’s founder and managing director, David Stradling. Dr. Park’s engagement with PMES was serendipitous, he believes.

“It was very fortuitous,” he recalls, describing the time they fi rst met by chance in the United Arab Emirates (UAE). “David was assembling the programme [of the fi rst edition] at the time.

“The fi rst question I asked him was: ‘Are you doing this for money or is there any reason?’ To me, it’s important to know, but I do not like being involved in conferences that are just out to make money. He said ‘No’, and went on to explain how precision medicine was something that was personal and important to him. So that’s how we started to collaborate.”


Precision medicine is at the core of Dr. Park’s work and research. His journey in the GCC began in 2019, where he “arrived with one bag and then never left”.

“I came here to build the Emirati Genome Programme,” he explains, highlighting that the foundation of precision medicine is genomic medicine. He notes that projects like the Emirati Genome Programme are crucial due to the importance of local data and treating individuals based on their own genetic makeup. It was this commitment to raising awareness of the importance

of local genomic data, and using this data to drive medical breakthroughs, that helped him shape the core scientific programme of the very fi rst PMES edition.

What’s more, he says, it was important to open conversations between leading precision medicine experts from the region and internationally.

Emphasising the collaborative spirit of PMES, Dr. Park recalls how the fi rst edition took place at a time when challenges of the pandemic and lockdowns were still dominating various parts of the world. Some top US speakers couldn’t appear in person, for example, and therefore presented via live link.

“We couldn’t fly people out, but we managed to bring them digitally, maintaining the quality of discussions,” he says.


Today, Dr. Park, along with the PMES team, have been able to establish a distinguished event thanks to its focus on quality and inclusivity. The conference and exhibition has since grown exponentially, reflecting the rapid evolution of precision medicine itself.

“The second year we saw tremendous growth, not just because of the hype around precision medicine but because we set a high standard from the start,” Dr. Park notes. “[Outside of the UAE,] we are proud to have very strong representation from very high-level

If I can, in my lifetime, create a movement where the clinical trial model is completely revamped for personalised treatments, that will be a success.”
38 PrecisionMed International Magazine // May 2024

speakers from the region, including Qatar and the Kingdom of Saudi Arabia.”


On the topic of Saudi Arabia, PMES makes its debut in the Kingdom later on in the year, a feat that is exciting to Dr. Park.

“We are now focusing on building a tight-knit awareness within the region,” he says. “One again, the UAE conference roster is impressively diverse, including regional scientific leaders.

“Looking at Saudi, it is a very large country with ongoing activities in healthcare, but there has not been a core focus on precision medicine. I believe our experience here can really help them to also create their own initiatives. Additionally, the Kingdom of Saudi Arabia has many very good scientists; they have invested in talent for much longer than other territories have.”


Unsurprisingly, Dr. Park’s vision extends far beyond conferences. Passionate about breaking barriers in healthcare accessibility and innovation, he asserts that “Our goal is to democratise precision medicine.” By leveraging open infrastructure and community-based approaches, Dr. Park envisions a future where advanced treatments are not only available to the affluent but are accessible to everyone.

The ultimate goal, according to Dr. Park –who, today is the Chief Science Officer and Director of Genomic Medicine, and Senior S&T Advisor for Healthcare at Sanimed International Lab and Management – is “personalised precision medicine”. This approach tailors healthcare at an individual level, dramatically shifting the current paradigm of clinical trials and treatment development.

“If I can, in my lifetime, create a movement where the clinical trial model is completely revamped for personalised treatments, that will be a success.”

Meanwhile, as PMES continues to grow, Dr. Park invites the global community to join this transformative journey.

“We need to break down the silos between scientists, clinicians, and policymakers,” he urges. “By fostering a collaborative environment, PMES helps spearhead advancements that can address complex medical challenges across the globe.”

PrecisionMed International Magazine // May 2024 39 PMES UAE 24



Executive Director of the Research & Innovation Centre





DR. HAZIM NAJJAR Executive Board Member & Consultant Molecular Genetics SAUDI SOCIETY OF MEDICAL GENETICS (SSMG)

DR. KHULOOD ALSAYEGH Head of Clinical Standards & Guidelines DUBAI HEALTH AUTHORITY








DR. FAWAD KHAN Program Lead, Hereditary High Risk and Cancer Survivorship Programs, Oncology Institute CLEVELAND CLINIC ABU DHABI

DR. IBRAHIM ALMAGHLOUTH Director of Population Health Activation Program NEOM


ALBARAH ELKHANI Senior Vice PresidentOperations M42


ANDREA TITHECOTT Partner, Head of Regulatory Practice AL TAMIMI & COMPANY

DR. REHAM KOTB Chair of the Public & Environmental Health Department ABU DHABI UNIVERSITY






40 PrecisionMed International Magazine // May 2024 PMES UAE 24

FARAH HILLOU Wellbeing Counselor & Nutrition Specialist G42 HEALTHCARE

DR. THOMAS LAUNEY Chief Researcher and VP Molecular Biotech & Genomics, Biotechnology Research Center TECHNOLOGY INNOVATION INSTITUTE (TII)




MICHELE ZANI Global Sales Director Clinical BRUKER BIOSPIN

HANY ELOSMAN Director, Healthcare Technology & Infrastructure NEOM



PROF. FAISAL ALSAIF Director of Health Planning NEOM


DR. MOHAMMED UDDIN Director & Associate Professor CATG, MBRU, DUBAI HEALTH


DR. ANNE MOTTRAM Director, Health Wellbeing & Biotech Authority NEOM

DR. AMMIRA AKIL Principal Investigator, Head of the Precision Medicine of Diabetes Prevention Program & Lead of the Genetic & Metabolic Clinical Research Program SIDRA MEDICINE






DR. OZGE BIRSOY Associate Director, Diagnostic Molecular Genetics MEMORIAL SLOAN KETTERING CANCER CENTER


Global Market Development Lead, Cancer Research & Multiomics Applications ILLUMINA


For the latest agenda, conference programme, more speakers, more exhibitors, and further information, download the o icial PMES UAE 2024 app. Just scan the QR code!

PMES UAE 2024 on your smartphone
PrecisionMed International Magazine // May 2024 41 PMES UAE 24


ioAro 42 PrecisionMed International Magazine // May 2024 PMES UAE 24

PMES UAE 2024 on your smartphone

For the latest agenda, conference programme, more speakers, more exhibitors, and further information, download the o icial PMES UAE 2024 app. Just scan the QR code!

PrecisionMed International Magazine // May 2024 43 PMES UAE 24


PrecisionMed International explores the various technologies and products currently changing healthcare for the better.


Stratys System

Elevate the OGM Sample-to-Report Work ow with the Stratys System. Reveal all classes of structural variants and leave the limits of traditional cytogenetics and sequencing behind with Optical Genome Mapping (OGM) and the Bionano Stratys System.

• High Sample Capacity: The Stratys instrument provides capacity for 12 singlesample, random-access chips that can be run individually or in batches. Load and unload chips as they complete–no need to wait for another sample to nish.

• Ultimate Flexibility: No Batching Required. Optimise cost and e iciency in your lab based on level of demand, loading from one to 12 samples in any run.

• “Jump the Queue” Feature for Priority Samples: With reserved space for three priority samples, you can perform on-demand runs without disrupting the analysis of other samples on the system.

• Reduced Turnaround Time: The Stratys system’s simpli ed work ow and scalable sample capacity enables you to deliver results faster while managing lab resources more e ectively. Find it at:


QuantStudio 5 Real-Time PCR System for Human Identi cation

The Applied Biosystems QuantStudio 5 Real-Time PCR System for Human Identi cation with tower computer is one of the latest additions to Thermo Fisher Scienti c’s human identi cation (HID) real-time PCR family of products. This instrument is designed for both new and experienced users who need a simple, reliable, and a ordable realtime PCR system that doesn’t require compromise on performance or quality. When used with Thermo Fisher’s latest advances in quanti cation chemistry and HID Real-Time PCR Analysis Software, this system o ers a sensitive, robust solution for forensic DNA quanti cation. It also helps prepare laboratories for future quanti cation technologies. With maximum dye versatility, this HID solution o ers accurate, trusted results in a small benchtop footprint. Find it at: thermo


4150 TapeStation System

The 4150 TapeStation system is an economic, low-throughput automated electrophoresis platform for nucleic acid sample quality control. Building on the success of the proven ScreenTape technology, it allows a quick, easy, and reliable analysis of DNA and RNA samples for up to 16 samples per run. This a ordable, entrylevel system is the ideal solution for the quality control (QC) of RNA and DNA samples in next-generation sequencing (NGS), biobank, or vaccine development work ows. Find it at:

44 PrecisionMed International Magazine // May 2024 PMES UAE 24


Hamilton – NGS STAR

The NGS STAR assay ready workstation is a comprehensive solution for next-generation sequencing (NGS) applications from whole genome to whole transcriptome sequencing and targeted sequencing applications.

Fully automated library preparation can be optimised for use with assay chemistries from leading industry partners, with throughputs up to 96 sample libraries processed at once.

• The NGS STAR is ideal for multiple automated NGS library preparations.

• The NGS STAR uses an open deck layout so that every system is ne-tuned to the lab’s speci c NGS work ow, throughput and assay needs. At the same time, the system is easily updated to keep pace with protocol updates, or as requirements evolve over time.


NovaSeq X Series

The NovaSeq X and NovaSeq X Plus Sequencing Systems deliver extraordinary throughput and accuracy to perform data-intensive applications at production scale.

Built on decades of innovation from a trusted partner in genomics, the NovaSeq X Series enables clients’ most ambitious ultra-high-throughput projects. These are reportedly Illumina’s most powerful sequencers yet. Scale your studies with three ow cell types and up to 16 Tb output per run on the dual ow cell NovaSeq X Plus System or up to 8 Tb on the single ow cell NovaSeq X System. Ultra-high-density ow cells and ultra-high-resolution optics enable output of up to 26 billion single reads per ow cell.

The NovaSeq X Series is powered by XLEAP-SBS chemistry — an even faster, higher quality, and more robust version of our proven sequencing by synthesis (SBS) chemistry.

XLEAP-SBS chemistry delivers the highest level of data accuracy and performance, and the increased stability enables remarkable sustainability bene ts. Find the series at:



Experience seamless sequencing with the DNBSEQ-G400, built with a new Flow Cell system that can exibly support a variety of di erent sequencing modes. It adopts optimised optical and biochemical systems, which can complete the sequencing process rapidly, providing users with a more streamlined sequencing experience. The device supports sequencing and data analysis in a wide range of areas including basic research, clinical research, forensics, and agriculture. Find it at:

Air displacement pipetting using Hamilton tips with CO-RE (Compressed O-Ring Expansion) technology provides superior measurement accuracy, precision, and reproducibility without tip distortion or aerosol generation during tip pick-up and ejection.

• As a fully walkaway system, NGS STAR signi cantly reduces cumbersome and user- or sample-variable preparation steps during runs of 1 to 96 samples. Find it at:


Fire y

Accelerate genomic research with innovative all-in-one, compact liquid handling.

Fire y harnesses novel dispensing technology to minimise tip use, reduce reagent dead volumes and miniaturise protocols allowing clients to maximise their research output.

Fire y delivers highly accurate and precise air displacement pipetting in the 0.5 ul to 125 uL range accommodating a variety of 96 or 384 well plate formats. Automated tip loading streamlines time consuming processes and exible column loading makes it easier for researchers to manage partial plates or partitioning of plates.

Fire y sets a new standard in liquid handling software, simplifying automated work ows with a highly accessible user interface, log-in access control, and presumptive ‘intelligence’. The ability to author on any PC maximises e iciency, while full version management ensures a complete audit trail. Find it at:

All product descriptions are based on manufacturer information and are accurate at the time of going to print. Products and their descriptions are subject to change and may be updated at any time on their respective manufacturer websites.

PrecisionMed International Magazine // May 2024 45 PMES UAE 24

GCC territories have committed to transforming their healthcare sectors through substantial investments in technology and innovation, making them attractive destinations for pioneering AI healthcare firms.

he Gulf Cooperation Council (GCC) region, especially the United Arab Emirates (UAE) and Saudi Arabia (KSA), is becoming a magnet for global artificial intelligence (AI) healthcare companies. This surge in interest is influenced by the progressive healthcare visions of these nations and the perceived limitations in the oversight by the U.S. FDA, which is grappling with the rapid advancements in AI.


The UAE and KSA have committed to transforming their healthcare sectors through substantial investments in technology and innovation, making them attractive destinations for pioneering AI healthcare fi rms. These countries offer regulatory environments that are more adaptable and quicker to respond to the evolving landscape of healthcare technology than more traditional settings constrained by FDA’s meticulous and sometimes slower regulatory processes. This flexibility allows for faster deployment and scaling of advanced technologies like digital twins and AI-driven diagnostics.


One of the significant advantages of launching AI healthcare tools in the GCC, and similarly in private hospital networks in the Asia Pacific region, is the streamlined process for reimbursement and market acceptance. Private healthcare systems in the GCC and Asia Pacific can often adopt new technologies more swiftly. This is because private networks typically have the autonomy to make independent purchasing decisions, while maintaining highest performance and quality of newly adopted tools and are incentivised to differentiate themselves by offering the latest in medical technology. Such an environment not only accelerates the introduction of innovative tools but also simplifies the process of integrating them into the healthcare ecosystem, providing a quicker path to commercialization and profitability.



In the GCC’s dynamic healthcare ecosystem, the use of digital twins stands out as a transformative approach to managing complex diseases. These virtual models of patients’ physiological processes simulate individual responses to different treatments. For instance, they can forecast how a patient’s heart might react to new medications, enhancing treatment efficacy and safety. Such capabilities are integral to the GCC’s vision of leading in personalised healthcare.


AI and machine learning are crucial in analysing extensive datasets from genomic sequences to metabolomic profi les with unmatched speed and accuracy. In the GCC, where there is a strong push towards digital innovation, AI’s capability to identify early signs of diseases such as Alzheimer’s before they manifest clinically is particularly valued. The region’s open stance towards new technologies allows for quicker integration of AI tools in clinical settings, aiding in the precise diagnosis and monitoring of chronic conditions.


In the context of the GCC, where there is a drive towards cutting-edge medical research, metabolomics provides detailed insights into a patient’s metabolomic state, aiding in the development of personalised treatment plans. This aligns with the region’s healthcare strategy to leverage advanced technologies for improved patient outcomes.


The integration of digital twins, AI, and metabolomics epitomises the innovative spirit that the GCC aims to embody in its healthcare sector. These technologies enable healthcare professionals to make informed decisions and provide a sophisticated understanding of diseases and their management, which is critical in a region aspiring to be a hub for medical excellence.

46 PrecisionMed International Magazine // May 2024 AI IN THE GCC

Can AI accelerate biotechnology breakthroughs?

Abu Dhabi’s Technology Innovation Institute explores AI’s impressive early success in biotechnology, dramatically enhancing disease identification and treatment precision.

We must address, individually and collectively, [the] moral and ethical issues raised by cutting-edge research in artificial intelligence and biotechnology, which will enable significant life extension, designer babies, and memory extraction,” states Klaus Schwab, Founder and Executive Chairman of the World Economic Forum.

While ChatGPT may be the most popular bot in cyberspace, BioGPT is carving its own path within the biotechnology sphere. Artificial intelligence (AI) is revolutionising this niche field, driving myriad

breakthroughs, including precision medicine and drug discovery. By harnessing the power of machine learning (ML) algorithms to analyse vast volumes of data, AI is accelerating the pace of discovery and ensuring more personalised and effective treatments.

It is early days yet, but as Dr. Thomas Launey, Chief Researcher at the Technology Innovation Institute’s (TII) Biotechnology Research Center in Abu Dhabi conjectures, leveraging AI within biotechnology to enhance human welfare and resources sustainability has already paid off handsomely. One of the most stunning breakthroughs is enabling swift disease identification and precise treatment recommendations in healthcare.

Boosting environmental awareness and sustainability outcomes, increasing crop yields and quality, while reducing impacts in food production, are equally significant.


AI is galvanising the analysis of genomic data, identifying patterns, and uncovering connections between genetic variants and disease susceptibility. Dr. Launey points out that such information is crucial in developing targeted therapies tailored to an individual’s unique genetic makeup. For instance, researchers at the Massachusetts Institute of Technology (MIT) developed an AI system last year that can predict the likelihood of breast cancer based on a woman’s genetic data and risk factors, enabling more personalised screening and prevention strategies.

Dr. Launey is excited about the incredible potential that the combination of biotechnology and AI could hold for drug discovery – upending traditional time-consuming and expensive drug development processes that cost billions of dollars to bring life-saving drugs to market. Companies like US-based Atomwise Inc., and Insilico Medicine in Hong Kong, are pioneering this AI-driven drug discovery revolution, using machine learning algorithms to design molecules with higher potency and fewer side effects.


In countries like the UAE, which have invested extensively in sophisticated labs, infrastructure,

SPECIAL FEATURE 48 PrecisionMed International Magazine // May 2024

R&D centres of excellence, and specialised biotechnology parks that attract global experts, integrating AI is helping to predict and manage patient care for ageing populations, and optimising medical facilities and training programmes. AI can process vast amounts of data to identify patterns and predict potential health risks, enabling healthcare providers to proactively implement preventive measures and personalised care plans. Predictive modelling and data analysis – from microscopic molecular analysis to macroscopic surveys of larger datasets, such as the UAE population – can offer rich insights into the genetic health profile. This will, in turn, help to strategically plan treatments and determine future healthcare priorities.

Dr. Launey notes that as a relatively young entity, TII’s optimisation of bioproduction processes is a critical component in advancing its core R&D mandate. ML techniques such as reinforcement learning and Bayesian optimisation help optimise experimental designs and production processes in the development of biotechnology solutions for rapid commercialisation.

By leveraging these advanced algorithms, TII can streamline workflows, minimise resource wastage, and expedite the shift from research to application. Optimisation also helps elevate TII’s competitiveness as an emerging centre of excellence while strengthening partnerships with relevant

stakeholders, promising the rapid transition of lab innovations into tangible products and services that benefit society.

In the realm of medical facilities and training to support biotech R&D centres, AI is already simplifying resource allocation, managing administrative tasks, and enhancing medical education. AI-powered scheduling systems are optimising resource utilisation at hospitals, ensuring that equipment and personnel are deployed efficiently. Additionally, AI-driven simulations and virtual reality environments can provide immersive training experiences for medical professionals, allowing them to practise complex procedures in a risk-free environment.

So, why is it so crucial that the UAE builds its own biotechnology solutions? Dr. Launey points out that controlling intellectual property has become a top priority for nations looking to build a scientific knowledge-based economy as the UAE is determined to do. He agrees that challenges persist. However, once the difficulties of data quality, data management, and data governance, which are inherent barriers to AI adoption, have been overcome, applying AI to genetics, genomics, and bioinformatics could make biotechnology a cornerstone of the next industrial revolution.

Learn more at

SPECIAL FEATURE PrecisionMed International Magazine // May 2024 49




Medicine offers patients access to treatments and technologies 10-15 years ahead of standard care.

Healthcare is changing rapidly, and the latest scientific and technological advancements have improved our knowledge and treatment protocols for a wide range of conditions, resulting in personalised treatments that are truly transformative. We are in the era of research, innovation, and personalisation, and in the coming years, we will witness a revolution in personalised medicine sweeping across the GCC.

Qatar has been working over the last decade to set the groundwork to lead in this innovative field, and Sidra Medicine has proudly contributed to this advancement by providing a globally recognised genomics enterprise and establishing research-driven care for patients with rare and complex diseases.

This approach is expected to benefit the wider Arab world by uncovering novel disease-causing genes and biomarkers shared by patients in the region, and establishing databases of genomic variation that facilitate accurate and rapid diagnoses of individuals of Arab ancestry wherever they may be seen.

At Sidra Medicine, the tight integration of research and clinical care means that patients today have access to platform technologies that are at least 5-10 years ahead of standard of care. This means that patients receive best-in-class diagnostic workups, on par with the leading genomic medicine centres worldwide. In parallel, the recent building and accreditation of a national GMP facility at Sidra Medicine ensures that the best possible treatment options can be manufactured and delivered to patients that need them the most, in the comfort of being close to home. We envision a world where no patient would ever need to be sent abroad for advanced treatments, and that Sidra Medicine can become a hospital of choice for families in the region to bring their children to seek the latest therapies, and benefit from our fully integrated model of researchdriven care.

Through its network of world-class universities and research institutes, Qatar Foundation also provides an extended academic collaboration network. This unique ecosystem has helped in developing talent from within Qatar who obtain their graduate training at Sidra, and thus at the forefront of innovative patientcentred research, and in positioning Qatar as a regional leader in precision medicine and attracting patients and researchers from around the world.


Building upon our genomics expertise, Sidra Medicine has established a pioneering precision medicine ecosystem in Qatar. As the country’s leading tertiary paediatric hospital, Sidra Medicine is entrusted to diagnose and treat the sickest children in the country and the region.

To date, over 200 genes and biomarkers have been discovered by scientists at Sidra Medicine, for a wide range of rare and complex conditions affecting paediatric and women’s health. With the completion of our GMP facility, we can begin to close the loop for many of these patients, who went from idiopathic aetiology to a confi rmed genetic diagnosis and to a potential advanced therapy that can be prepared and administered locally, under the care and supervision of a world-class clinical team at Sidra Medicine. Given our infrastructure, expertise, and access to patients with rare and complex disorders, Sidra Medicine is quickly becoming a hub for industry and biotech looking at opportunities for regional innovation and entrepreneurship. Arab genomics could be a valuable resource for biotech companies searching for specific patient mutations. By gaining access to the Middle East, where patient numbers are higher, biotech companies can make treating rare diseases more economically feasible. This could lead to startups relocating to the Middle East and transforming it into a regional treatment destination.

An innovative Sidra Medicine study has discovered new fi ndings about Arab genomes, leading to a better understanding of the genetic architecture driving rare conditions and opening avenues for future personalised therapies. “The Burden of Mendelian Diseases” is led by Dr. Younes Mokrab and myself in collaboration with the Qatar Genome Programme, Qatar Biobank, and Hamad Medical Corporation. It has analysed over 6,000 whole genomes and corresponding health data from Qatar.

Special thanks to Dr. Khalid Fakhro for his guest contribution.

50 PrecisionMed International Magazine // May 2024 QATAR IN FOCUS


We have a big problem in healthcare systems globally. They do not cater for the health needs of ethnically diverse populations, who are often underrepresented in drug research.

Imagine a healthcare system where patients of European ancestry and patients of African, Middle Eastern, East Asian, or any other diverse ethnicity were prescribed medications according to their unique genetic makeup, rather than the standard guidelines developed by the American Heart Association, as an example.

That’s the problem, you see. A European patient and an African patient are lumped in the same basket and treated with a “one-size-fits-all” guideline. How can that be?

We have a big problem in healthcare systems globally. They do not cater for the health needs of ethnically diverse populations, who are often underrepresented in drug research, of which the majority is conducted in countries like the USA and Europe, where pharmaceutical companies develop most drugs.

The solution lies in embracing a technology that identifies the patient’s unique genetic makeup so that they can get the right medication, at the right dose, for their genes – that’s the promise pharmacogenomic-based prescribing brings. Tailoring medications to a patient’s unique genetic makeup, rather than prescribing them medications based purely on a guideline that, although based on strong evidence, unfortunately underrepresents ethnically diverse populations. This underrepresentation perpetuates disparities in healthcare, as treatments may be less effective or pose higher risks for certain ethnic groups due to unaccounted genetic factors.


Pharmacogenomics, the study of how genes affect a person’s response to drugs, has the potential to revolutionise medication outcomes, particularly in ethnically diverse populations. However, the current landscape of pharmaceutical research and evidence often overlooks the nuances of genetic diversity, leading to disparities in healthcare delivery.

One of the key advantages of pharmacogenomics is its ability to bypass the limitations of traditional clinical trials in capturing diverse genetic backgrounds. By analysing genetic markers associated with drug response across different ethnicities, researchers can extrapolate fi ndings to populations that may have been underrepresented in clinical studies. This approach not only enhances the generalizability of pharmacogenomic guidelines but also ensures that individuals from all ethnic backgrounds can benefit from personalised treatment strategies.

Additionally, pharmacogenomics empowers healthcare providers to make more informed decisions when prescribing

medications to patients from ethnically diverse backgrounds.

By integrating genetic testing into clinical practice, clinicians can identify genetic variations that may influence drug responses and adjust treatment plans accordingly. This proactive approach not only improves patient outcomes but also reduces the likelihood of adverse drug reactions, which can disproportionately affect certain ethnic groups.

However, realising the full potential of pharmacogenomics in ethnically diverse populations requires concerted efforts from various stakeholders. Firstly, there is a need for greater inclusivity in pharmacogenomic research, with initiatives aimed at recruiting diverse study populations and prioritising representation from underrepresented ethnic groups.

Collaborative efforts between researchers, healthcare providers, and healthcare systems are essential to ensuring that genetic databases accurately reflect the genetic diversity of the population.

What’s more, education and awareness initiatives are crucial to overcoming barriers to the adoption of pharmacogenomic testing in clinical practice, particularly in underserved communities. A statement released by the World Health Organization (WHO) emphasises that “education and awareness initiatives are crucial to overcoming barriers to the adoption of pharmacogenomic testing in clinical practice, particularly in underserved communities. By empowering both healthcare providers and patients with knowledge about the benefits of pharmacogenomics, we can foster greater acceptance and uptake of personalised medicine approaches, ultimately improving healthcare outcomes for all.”

Healthcare systems globally are overstretched and the disparities created as a result of not tailoring medications to patient genes in these populations add to the strenuous burden on healthcare systems. It is time clinicians globally adopted pharmacogenomics into their clinical practice, as it provides a pathway for achieving better therapeutic outcomes for ethnically diverse populations, thereby enabling equitable delivery of healthcare services.

Special thanks to Katrina Azer for her guest contribution.

PRECISION PERSPECTIVES PrecisionMed International Magazine // May 2024 53



It matters now more than ever that healthcare systems, life sciences researchers, and universities come together to explore innovative wellness solutions.

Co-Founder & Managing Director, Q3 Consulting Group (Q3CG) Executive Director, Q3 Research Institute (QRI), Michigan, USA + SAWSAN MOHAMMED, MD Qatar University, QU Health, College of Medicine, Doha, Qatar

Collecting data is only the beginning. Data analysis and its tools are crucial for transforming this data into information and actionable, implementable knowledge.”

54 PrecisionMed International Magazine // May 2024 PRECISION PERSPECTIVES

In two famous quotes attributed to Hippocrates around 400 BC, he said in the fi rst, “It’s far more important to know what person the disease has than what disease the person has”, while in the second he stated, “Let food be thy medicine, and medicine be thy food”. This ancient precedent is the fi rst account of the concept of precision medicine.

On the other hand, a quote by Sir William Osler, a physician in 1892, “If it were not for the great variability among individuals, medicine might as well be a science, not an art”, is by far the one that has laid the foundation for patientcentricity and precision-wellness.

It matters now more than ever that healthcare systems, life sciences researchers, and universities come together to explore innovative wellness solutions. These pillars form the quality of life (QoL) ecosystem. The purpose of this convergence is the quintessential goal of next-generation precision medicine – patient centricity in an equitable and timely manner for those who are ill and precision wellness in the case of healthy individuals.

This insight promises not only to accelerate the implementation of next-generation precision medicine at the primary care level but also presents challenges for the QoL ecosystem that are struggling to interconnect and integrate information sources into a unified clinical strategy to the benefit of their population.



Collecting data is only the beginning. Data analysis and its tools are crucial for transforming this data into information and actionable, implementable knowledge. While we are still in the early stages of harnessing and analysing large, multidimensional, and diverse datasets for everyone’s benefit, there is already sufficient pre-existing information. However, these are often disparate data sources with minimal integration and are frequently underutilised. Equally important is the ability to separate signals from noise, as much of it is not at all helpful for understanding health and wellbeing.

Beyond precision medicine, an information management system, likely centralised in some form, is paramount to the migration towards and success of precision wellness. Often, the allure of novel terminologies can distract from the intended effort. Data streams, whether quantitative or qualitative, are expanding along three vectors – variety, volume, and velocity (i.e., Big Data). Considering this vast trove of data, one cannot untangle the complexities to make sense of it without mining it using appropriate analytics and computational analyses. A valuable tool and enabler in this domain is the digital twin, which is a virtual model mirroring a physical entity where one can simulate an individual’s unique physiology and biochemistry, multimodal interventions, etc., thus driving transformation from drug discovery and development to healthcare management. Deep health is a state of being to be achieved and a natural outcome of the amalgamation of these data. There are six interplay elements: physical, emotional, mental, social, environmental, and existential. The physical domain in terms of lifelong wellness and personal wellness is briefl y summed up below.


Precision wellness is not an eccentric idea. Science and technology have enabled this paradigm shift to implement the next-generation precision medicine vision of individual health wellness and a wellnesscentred healthcare system. The benefits at both the population and system levels are obvious, explicitly in cost-effectiveness along with numerous other advantages. The technical basis for precision wellness is P4 medicine, which is evidence-based wellness that is predictive, preventive, personalised, and participatory. This revolution is requisite for the ecosystem to tackle the complex health challenges and ensure health wellness at all levels for the entire population.

So, how does this translate in the real world? To appreciate this undertaking and the sophistication of such a task, it is illustrated by the need to bring together expertise across multiple disciplines like medicine, biology, physics, computer science, data science, IT, etc., in the medical realm. For example, the US Precision Medicine Initiative (All-of-Us Research Program) underscores the monumental integration that is needed and should take place at the primary care level.

Precision wellness is not science fiction. The main premise of precision medicine is health wellness. This lifelong wellness represents the eventual alignment and convergence of next-generation precision medicine (disease-free and/or precision therapy) with extended lifespan (precision nutrition & biological ageing), thus maintaining an effective mental and physical state.

Precision nutrition: Diet and lifestyle were central to Hippocrates’ thoughts. The quest for precision nutrition is to develop more comprehensive and dynamic nutritional recommendations based on genetic background (nutrigenetics/genomics) and other internal and external environmental factors throughout one’s life, encompassing a range of dietary, biological, and lifestyle factors. Precision nutrition holds great promise as an approach to improve healthspan and reduce healthcare costs. Consider, for example, the Mediterranean Diet, which has received much attention as a healthy way to eat and is known to positively influence non-

PrecisionMed International Magazine // May 2024 55 PRECISION PERSPECTIVES

communicable chronic diseases.

Biological ageing: Growing old is inevitable, but ageing is not, marked by progressive and cumulative organ damage over time. Thus, impaired biological functions lead to increased disease vulnerability. Therefore, optimising our wellness through healthy ageing allows us to combat deleterious conditions. Slowing biological ageing is attainable, as research across numerous cellular and animal models has shown. Although controversial, there is a growing body of anti-aging compounds that have been demonstrated to extend lifespan and health spans. Even if the perceived reduction in ageing is minimal, it still offers disproportionate benefits by delaying the onset of chronic diseases and improving quality of longevity.




Precision wellness encompasses not only the body as we have discussed above but also the mind and spirit to arrive at the desired deep health state. Brain health should not be neglected. Much like a body, from nutrition/diet to brain exercise these are important components to enhance cognitive performance and mood health. Spirituality is inseparable from body and mind health. Most studies have shown that spirituality involvement is associated with better health outcomes, including greater longevity and better QoL. Evidence also shows there are neurobiological basis for these benefits.


Given the accelerated pace of discoveries, data generation, and the complex connectivity of relationships, AI has become essential for both processing

Precision wellness is not science fiction. The main premise of precision medicine is health wellness.

power and speed. Although the field of AI is still in its infancy, its impact is already significant in the medical field. The power of AI is felt from drug discovery and development through to clinical decision-making and treatment. However, given the complexity of human biology and disease, domain expertise is essential, making the human/ computer interface superior to traditional methods. The predictive supremacy of AI will enhance and potentially increase the efficiency of routine medical decisions, diagnostics, and the interpretation of laboratory results.

Overall, the computing power of AI and AIgenerated content have the potential to revolutionise the health and wellness industry by providing personalised, expert advice and support 24/7 to individuals on a scale that was previously impossible. For instance, it could be a virtual physician assistant that provides personalised workout plans, fitness and nutritional guidance, stress management techniques, chronic disease management, and other relevant recommendations.


We believe that it is important to reorient our thinking in healthcare by keeping people well and adopting a wellness approach, rather than simply managing illnesses. Undoubtedly, there are several hurdles ahead of us. Nonetheless, with current modern capabilities and the vast extent of data available (on average, 80 megabytes of information are generated per patient per year), we can strive to optimise a person’s precision wellness profi le. This marks the beginning of a transformation at both population and system levels. Anticipating the course of advancement, we make the following points:

• Precision wellness will become

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a central health concept, ensuring a systematic approach for early detection of wellness-to-disease transitions and their reversal.

• In terms of ‘omics’ technologies, genomics has the widest adoption in clinics and is being integrated at scale into healthcare systems cost-effectively.

• Immediate beneficiaries include cancer genomics, rare diseases, and neonatal genomic sequencing, with many personalised screening and companion diagnostic tests being introduced, leading to overall therapy improvements.

• AI is a fundamental enabler, and the power of data-driven population health cannot be ignored or underestimated, assuring the arrival of future healthcare wellness much sooner, including in primary care.

• Feasibility of large-scale discovery efforts with diverse population pools will better inform health conditions/wellness and enable a deeper understanding of data/information to make it actionable.


There are several initiatives underway that will ultimately lead to the realisation of precision wellness. Rather than providing a detailed list of all these initiatives, we will highlight key initiatives and infrastructures that underpin precision health and wellness in countries like Saudi Arabia, UAE, and Qatar.

In Saudi Arabia, the drive for precision wellness is led by four main organisations: 1) the Saudi Genome Project (SGP), an extraordinary project focused on mapping the genetic blueprint of Saudi society and constructing a pioneering database, now entering its 2.0 phase; 2) King Faisal Specialist Hospital & Research Center (KFSH & CR), a premiere global hospital providing specialised healthcare in an integrated educational and research setting; 3) NEOM, a community establishing a comprehensive health, wellbeing, and biotech ecosystem centred on the individual, aiming to surpass conventional medicine; and 4) the private healthcare sector, which comprises 33%-37% of the Saudi healthcare system, including outcomes from the non-profit organisation Hevolution Foundation, which focuses on healthspan science.

In the UAE, numerous enterprises within the Abu Dhabi Department of Health (DoH), including the Emirati Genome Programme, initiatives from the Dubai Health Authority (DHA), and the private healthcare sector, such as PureHealth – the largest integrated healthcare network in the UAE – are integral contributors to precision wellness. The five key drivers are physical health, financial health, work health, family health, and social health. As a result, the UAE has become a global leader in healthcare services and innovations, rising to become one of the top medical tourism destinations with world-class hospitals and international doctors across several specialties, with a focus on wellness.

In Qatar, precision health is led by the Qatar Foundation, embodied in the Qatar Precision Health Institute (QPHI), a national centre for research and

implementation. Key facilitators under its umbrella include Qatar Biobank (QBB) and Qatar Genome Project (QGP), which have brought together over a decade of developments. A unique aspect of QBB is its gathering of ‘omics’ and deep phenotyping data, which enables more precise measurements of physiological systems and identification of specific wellness and/or disease interventions. To date, QGP has sequenced a large fraction of the population (over 33,000 genomes). Projects such as predictive genomics wellness report on wellness and lifestyle traits based on whole genome sequencing data analyses of QBB participants.

Another significant activity impacting precision wellness is the Qatar Birth Cohort Study (QBiC), in collaboration with Women’s Wellness and Research Center (WWRC), one of the only mother-child cohort studies in the Middle East. Additionally, the Department of Translational and Precision Medicine Research at WWRC launched the Qatar Newborn Screening Translational Research Initiative registry and biobanking, aiming to improve maternal and neonatal wellness and QoL. Another catalyst, TASMU, leverages Qatar’s ICT ecosystem into the healthcare sector to fuel digital transformation and the delivery of public services, with capabilities ranging from a healthcare portal to a digital doctor, mobile clinic, integrated response team, various national databases, and a geospatial information system.


The precision wellness revolution is here. However, a variety of legitimate legal, regulatory, and ethical issues—including privacy concerns—need to be dealt with and fully addressed satisfactorily. AI policies, regulation, and practices are another significant matter not to be ignored. In a future article, we will offer a perspective on these topics.

Special thanks to Dr. M Walid Qoronfleh and Dr.

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We must acknowledge that this revolution is a different beast to all those before it.

ospitals originated in the Byzantine Empire around the year 330 AD. They were designed not just as places of healing but also as centres for hospitality and care for the poor, the elderly, and travellers. They served as a bridge between people and the pillars of care where health was defended and sickness treated.

The fi rst hospitals grew and diversified into systems, and hundreds of disparate pillars of care were established, extending life expectancy by over 20 years. Each historical revolution thereafter left its mark. The Industrial Revolution brought dense populations, thus emphasising public health and infection control. The Scientific Revolution led to researchbased medicine, moving away from traditional theories. The French Revolution introduced centralised systems and state responsibility for health.

The digital revolution is surely destined to unify the parts of the system that have withstood nearly 2000 years. It’s already well underway. The Alexa in my kitchen can give me life-saving instructions for administering CPR, a skill taught to it by the American Heart Association. Complex patients can now be monitored by clinical teams in home-based ICUs. AI can detect cancers that the eye can’t see.

But we need to be smarter. We must acknowledge that this revolution is a different beast to all those before it. It has legs of its own and they’re fast; it is fi scally riskier and infi nitely more likely to impact people directly.

Changes to the entire system can be instantaneous with a slap of the Enter button by George in IT. It won’t take centuries for this revolution to unfold. There is no production line development or warehouses to build; there are few rules, regulations, or even etiquette. With breakneck speed development and execution, maintaining quality assurance and consistency is challenging. Even our beachhead AI, ChatGPT, saw its accuracy score drop from 98% in March to 3% in June 2023 in a simple test identifying prime numbers. The threat to the lives of millions is real if this kind of diminishing accuracy over time goes undetected in the health system.


This revolution is fickle. What we build in the clouds lacks the robust foundations and longevity of St Bartholomew’s Hospital in London, which has been operating for 900 years. We invest in and build technology that can become obsolete overnight – but it doesn’t necessarily cost less than St Bartholomew’s.

We saw this post-COVID. George hit Enter on digital health, and investors got excited – investment in digital health surged by 66% in 2020 to $14bn worldwide. But the systems became

obsolete as soon as patients were allowed out again. Babylon fell. Valuations for digital health companies plummeted by 80%.

A review of lessons learned offers clues on how this beast behaves. We need to preempt its next move, understand how the system, the people, and other technologies will react after implementation. This is easier said than done, given the rapid pace of development. There is only one way to gain this insight. We need to build the bridges fi rst.

Connecting the solid, reliable pillars of the healthcare system, rather than attempting to replace them simply because the tech version is cooler and the investors are excited about shiny new things, is essential. Health is more important than that, and failure in this system is not just the fall of a business, it is literally a matter of life and death.

We can’t try to replace our usual doctors or facilities with telemedicine doctors who don’t know our history. We can’t build new pillars on rickety, experimental foundations when we have 2000-year-old pillars that have withstood the fall of empires. We need to strategically incorporate digital health advancements, while also respecting and strengthening proven methods of traditional healthcare.

We need to use digital health to address issues that slip into chasms between care services—medication management and preventative care. We must tackle chronic diseases which intensify between appointments and are causing 77% of deaths in the UAE... Address lifestyle diseases that remain hidden until a stroke brings a patient into the ER... Analyse the data to understand the weaknesses... Build bridges between doctors, hospitals, and homes that transfer knowledge and understanding...

Revolutions don’t come around often, but when they do, they shape the future for millennia. We can’t even comprehend the power of this revolution – reverse-ageing, digital twins, eradication of cancer are all behind lines of code. But we need to be in control, and the only way to achieve this is to preserve what we know works – we need to build digital bridges between the most powerful and robust components of the system.

Special thanks to Sarah Miller for her guest contribution.

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These technologies are vital in engaging populations that are typically under represented or difficult to reach through traditional prevention programmes.

Prevention is better than cure. Digital technologies are revolutionising this principle by enabling a precise approach to preventive care, promising enhanced patient engagement, improved compliance, and superior outcomes. By facilitating a deeper understanding of behavioural patterns, these technologies are vital in engaging populations that are typically underrepresented or difficult to reach through traditional prevention programmes. It is crucial, therefore, to integrate “PrecisionPrev” into digital maturity in healthcare.

Prevention often involves substantial lifestyle modifications, especially in conditions like diabetes, where diet and physical activity play critical roles. Healthcare professionals frequently highlight the significant challenges associated with dietary changes – typically the most difficult adjustments for patients to maintain consistently. Furthermore, discussions with insurance companies underscore their keen interest in broadening prevention programmes to not only encompass already engaged groups but also include multimorbid individuals, who are notoriously difficult to engage and represent a considerable portion of healthcare expenditures.


A primary focus in the context of “PrecisionPrev” is the social determinants of health (SDH). These determinants, which include the conditions in which people are born, grow, live, work, and age, are crucial to individual wellbeing. The Robert Wood Johnson Foundation reports that up to 80% of a person’s health in the United States is determined by SDHs.

Diabetes, one of the most prevalent non-communicable diseases globally, demonstrates a strong association between poor control and adverse SDHs. Studies have found that factors such as low income, lack of health insurance, food insecurity, and limited language proficiency are significantly associated with uncontrolled diabetes. As healthcare systems increasingly extend into patients’ homes and communities, digital technologies and data analytics play a critical role in identifying and addressing the specific SDHs that impact patient groups, essential for developing precise prevention strategies.


Digital health technologies provide promising solutions to the challenges posed by social determinants. Leveraging the widespread use of smartphones and internet connectivity, these technologies deliver personalised interventions that encourage behaviour change and enhance patient engagement.

The potential for precision is further expanded by integrating data from individuals’ mobile devices. Several countries – led by Germany – have pioneered the integration of low-risk digital health therapeutics into regular care, with reimbursement through their health insurance systems. This data can be complemented with information generated through wearable devices to create more targeted prevention strategies. These strategies may include specialised telemedicine consultations, educational interventions (e.g., managing diabetes-related depression), or emotional and social support through online communities or peer groups.


As we refocus healthcare in the 21st century from cure to prevention, aligning our understanding of digital transformation is imperative. This shift moves beyond the enterprise, reaching into people’s communities and homes.

At the heart of this effort is the ability to share data among individuals, organisations, and health sectors. Capturing SDHs and personal data in a structured form within a person’s EMR will facilitate the creation of precise and preventative interventions that align with an individual’s behavioural patterns and social situation.

This approach completes the principle of the 4P medicine model: predictive, preventive, personalised, and participatory, and emphasises the critical role of patient participation in medical strategies tailored to their specific needs.

Special thanks to Armin Scheuer for his guest contribution.

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The PerMediNA project aims to promote advances in genomics and molecular biology research, as well as technological, computational, and therapeutic developments in the region.

Precision medicine, also known as personalised medicine, offers new perspectives on preventive approaches and therapeutic management, guiding the clinical care of patients according to their genetic and molecular characteristics, and taking into consideration their lifestyle and environment. In Africa, significant advances have been made in genomics data generation and analysis. However, in North Africa, despite considerable progress in medical research, the translation into clinical settings remains partial. Several efforts have been undertaken to address this issue, and within this context, the Personalized Medicine in North Africa (PerMediNA) initiative was launched.

The PerMediNA project aims to promote advances in genomics and molecular biology research, as well as technological, computational, and therapeutic developments in North Africa. Funded by the Ministry for Europe and Foreign Affairs (MEAE), PerMediNA is coordinated by the Institut Pasteur of Tunis with the support of Institut Pasteur Paris. It is carried out in collaboration with Institut Pasteur of Algeria and Institut Pasteur of Morocco and involves several European reference institutions including Institut Gustave Roussy and the Polish Academy of Sciences.

Thanks to the efforts of the PerMediNA consortium, this initiative has become a reference project at the regional level by mapping state-of-the-art precision medicine implementation in the region and reinforcing infrastructure and capacities in

North Africa. Training activities and internships covering all fields related to precision medicine have been organised, including ethical and regulatory aspects, NGS sequencing, OMICs data analysis, data interpretation and validation, functional genomics, implementation research, and more.

PerMediNA also aims to sequence hundreds of lung cancer samples to identify actionable genetic markers for improved diagnosis and treatment. A roadmap and evidence-based recommendations will also be drafted for national and regional authorities to help implement precision medicine in the region.

The PerMediNA project, as described here, stands as the fi rst precision medicine implementation initiative in North Africa. Findings from this initiative will contribute significantly to shortening existing health disparities and inequities between developed and developing countries, and accelerate access to innovative treatments for global health.

In North Africa, despite considerable progress in medical research, translation into clinical settings remains partial.”

As the coordinator of the PerMediNA initiative, I’m very proud of the current achievements and looking forward to accomplishing the remaining goals of the project. Alongside my team, and thanks to a strong network built with partners from Africa, Europe, Asia, and North America, we are committed to advancing research on cancer genomics, enhancing research capacities, and expediting the implementation of precision medicine to better serve patients’ needs.

Special thanks to Dr. Yosr Hamdi for her guest contribution.

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Making Complex NGS Testing

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Breaking Barriers To Precision Oncology


Advances in genomic testing can deliver clinically actionable insights, unlocking the true potential of precision medicine efforts.

It’s all in the genes! While this may not be entirely true, our genetics and dynamic genomic changes, along with an interplay of other factors, are key determinants of our health and overall wellbeing. Our genes not only define many of our physical and behavioural traits but also play a major role in disease susceptibility, response to drugs, disease development, progression, and prognosis.

Genomic tests are useful across the care continuum – from disease screening and diagnosis to therapy selection, dose optimisation, and therapy response monitoring. Advances in genomic testing can deliver clinically actionable insights, unlocking the true potential of precision medicine efforts. Technological advances have led to cost-efficient nextgeneration sequencing (NGS) platforms with low turnaround times, high throughput, and high accuracy, supporting largescale studies and increased adoption in clinical settings.


Using a combination of advanced NGS-based analysis such as long-read sequencing, combined with cytogenetic analysis, Predictive Genetic Tests (PGTs) can analyse DNA variants, mutations, and chromosomal aberrations to identify disease risk assessments in individuals. The most widely used PGTs are in prenatal and neonatal testing for genetic diseases. However, PGTs have shifted from conventional carrier screening based on targeted genotyping methods to a more comprehensive NGS-based approach to gain deeper understanding and drive large-scale screening programmes. Many complex diseases such as cancers, cardiovascular diseases, and neurological disorders have a strong genetic component associated with disease pathogenesis, making PGTs valuable tools. Clinical testing reliability, reproducibility, and accuracy are being greatly improved with AI/ML integration for genetic tests.

The widespread utilisation of PGTs can also foster an era of personalised medicine based on individual genetic profiles. The shift towards consumerism is notable in the PGT space, with

many test developers providing DTC (direct-to-consumer) tests. They are adopting innovative strategies to foster a mutually beneficial ecosystem and developing data-sharing platforms and solutions for control and accessibility of personal genome data. However, many of the currently available tests are based on SNP analysis of American and European populations, making the clinical relevance for other ethnicities a concern.


Precision clinical genomics is one of the key pillars of precision medicine, driving value-based therapy, particularly when the costs and risks associated with treatment are high. Stratifying patients in specific cohorts based on their molecular signatures is enabling the development of tailored therapies, dose optimisation, and targeted patient recruitment for clinical trials. Genomic testing, to analyse mutational burden and other genomic changes, followed by biomarker-guided therapy selection, is increasingly being witnessed in precision oncology efforts. Testing patients for genetic variations can also help with pharmacogenetic analysis and improve therapeutic outcomes via the selection of apt therapy.

Targeted gene panels offer affordable and comprehensive analysis in clinical genomics and are most used in precision medicine workflows. When compared to WGS (Whole Genome Sequencing) and WES (Whole Exome Sequencing), targeted gene panel analysis provides affordable and comprehensive analysis which can be used for both tumour and cell-free DNA analysis. In recent years, liquid biopsies have emerged as a powerful and minimally invasive tool for tumour genetic profiling in realtime for diagnosis and to support clinical decision-making. A surge in programmes to expand liquid biopsy-based molecular diagnostics as companion diagnostics is being sought via strategic co-development partnerships. The unique microbiome and its interactions with the drug are also determinants of how a patient would respond to therapy, and microbiome-host genome analysis is being increasingly adopted in the clinic.

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When compared to conventional PCR techniques, real-time PCR and digital droplet PCR offer high-resolution molecular characterisation with high sensitivity and are particularly useful in precision medicine efforts for the detection and monitoring of low amounts of nucleic acids - to diagnose minimal residual disease. High-resolution analysis is also being made possible with single-cell sequencing technologies and spatial omics platforms which provide insights into tumour heterogeneity and dynamic changes in the tumour microenvironment.


Burgeoning healthcare costs are prompting healthcare delivery to witness a substantial shift from reactive to proactive care, with many developed nations working on genomic-driven healthcare initiatives and public genetic programmes. Applying the learnings from population genomics programmes can drive precision medicine efforts by screening and identifying populations at risk and bringing large-scale genomic studies to clinical practice for disease prevention and management. However, the integration and implementation of genomics into healthcare have been relatively slow in certain regions and countries and vary significantly.

Most public genetic programmes have been focused on sequencing the populations of American and European descent, with a major under-representation of the MENA region. In the last fi ve years, there have been efforts to include largescale GWAS (Genome Wide Association Studies) to decipher population-specific, disease-causing genetic variants, and many of the GCC countries have embarked on national-level genome programmes, with the aim of improving genetic diagnostics and paving the road for implementing large-scale screening and precision medicine strategies into their healthcare systems. The Qatar Biobank (QBB) is an extensive effort that has published data on more than 15,000 Qataris, which is the biggest Arab genomic representation to date.

Discoveries from GWAS have begun to translate to the clinic

Precision clinical genomics is one of the key pillars of precision medicine.”

via the implementation of polygenic risk scores (PRS). However, a lack of diversity in reference genomes and published GWAS limits the portability and accuracy of the score prediction in non-European and US ancestries. The Emirati Genome Programme, Saudi Human Genome Program, Qatar Genome Programme, and Bahrain’s National Genome Project are some of the key genomic projects in the region, creating reference genomes for the population and expanding R&D into the clinical genomics space. This would be integral for improving the portability of these PRS scores.


Widescale adoption of genomic analysis studies, a surge in public initiatives around preventive healthcare, and an uptick in funding activities have prompted an array of efforts to develop cost-efficient, clinically valuable tests. These can be adopted for clinical decision-making and as a tool for population health studies. With increased efforts from healthcare decisionmakers, funding bodies, federal agencies, and regulatory bodies that would need to work in sync, it is expected that clinical genomics will continue to play a greater role in improving healthcare delivery and improving outcomes. The potential of clinical genomics-guided precision medicine is expected to garner traction beyond rare diseases and cancer, with product developments for neurodegenerative diseases, cardiovascular, and infectious diseases.

Special thanks to Ruplekha Choudhurie for her guest contribution.

PrecisionMed International Magazine // may 2024 65 PRECISION PERSPECTIVES

Genetrics: Molecular solutions for precision-dx

Genetrics offers comprehensive molecular profiling solutions, from DNA to sample reporting, using various technologies such as qPCR, NGS, and OGM for bench-to-bedside companion diagnostics.

nlock the potential of molecular diagnostics with Genetrics, your partner in precision medicine. From in-depth DNA analysis to advanced sample reporting, Genetrics harnesses cutting-edge technologies such as quantitative polymerase chain reaction (qPCR), Next-Generation Sequencing (NGS), and

Uoptical genome mapping (OGM). Transforming research into real-world applications, Genetrics offers a complete suite for bench-to-bedside companion diagnostics.

Dive into the future of healthcare with solutions tailored to deliver accuracy and innovation. Learn more at

1: From in-depth DNA analysis to advanced sample reporting, Genetrics harnesses cuttingedge technologies such as qPCR, NGS, and OGM

66 PrecisionMed International Magazine // May 2024
2: Ionano OGM workflow
1 2 3
3: NGS workflow with bioinformatic solution

Break speed and cost barriers in rapid variant detection, exome and genome sequencing for genetic disease diagnosis

How labs in the Middle East use QIAGEN® solutions to build fast, cost-effective, and ultra-precise workflows for variant detection exome and genome sequencing.

With an estimated 2.8 million people suffering from rare diseases, several Middle Eastern countries have implemented precision medicine programs to enable in-country molecular data analysis for improved diagnosis and management of rare and genetic diseases. As the leading global provider of Sample to Insight® solutions for detection and diagnosis, QIAGEN has partnered with organisations and labs in the Middle East, including the Ministry of Health of Saudi Arabia, Çukurova University Hospital, to support public health initiatives and make detection of mutations and whole genome and exome sequencing (WGS/WES) more accessible.


The QIAcuity® Digital PCR System is proving to be an invaluable tool in the detection and analysis of rare diseases, particularly those caused by genetic mutations present at low frequencies in patient samples. The unique capabilities of dPCR make it well-suited for uncovering and quantifying these rare mutations, offering insights into disease mechanisms. The QIAcuity Digital PCR System is designed to deliver precise and multiplexed quantification results for mutation detection, copy number variation (CNV), gene expression studies, geneediting analysis, and many more. This nanoplate-based system seamlessly integrates a standard dPCR workflow of partitioning, thermocycling and imaging into a walk-away automated platform with minimal hands-on time. Advances in digital PCR (dPCR) technology and its increasing accessibility make it attractive to implement in robust manufacturing and quality control processes. Combine this with recent instrumentation advances in the form of a fully integrated nanoplate-based QIAcuity® Digital PCR System that overcomes the speed, usability and throughput bottlenecks in manufacturing processes without compromising performance, and it’s clear why dPCR should be embraced as a reliable quality control tool.

The QIAcuity instruments, together with the QIAcuity Nanoplates and the QIAcuity PCR kits, enable digital PCR applications, including: Rare mutation detection

• Copy number variation analysis

• Gene expression analysis

• Pathogen detection

• Genotyping

• miRNA research


QIAGEN Clinical Insight (QCI®) Interpret for Hereditary is a variant interpretation and reporting platform with artificial intelligence (AI)-enhanced coverage of thousands of rare disease genes and human-certified content curation to enable complete bibliographical coverage of the clinical exome.

• Improves accuracy and efficiency of variant classification with AIderived literature searches and AI-trained phenotype-driven ranking.

• Encompasses > 40 databases maintained by machine and human curators, adding over 46,000 new findings weekly.

• Achieves a 99% solve rate, while reducing variants for follow-up by 94% to 100%.


In 2023, QIAGEN launched a new LightSpeed module as part of the CLC Genomics Workbench Premium that removes the dataanalysis bottleneck by adding game-changing analysis speed to analyse and interpret WGS and WES.

• Requires < 1 minute to process one WES and < 20 minutes to process one WGS sample at 35x coverage.

• Costs < $0.30 per WES sample and < $0.40 per WGS sample.

• Achieves 99% accuracy for more than 90% of the genome.


The QIAseq® xHYB Actionable Exome panel uses a hybridization capture-based target enrichment approach to enrich exonic sequences of the human genome from indexed whole genome libraries.

• Delivers 99% base-level coverage at ≥20x depth, enabling >98% combined sensitivity for SNVs and indels.

• Provides single-day workflows ranging from 30 minutes to overnight.

• Enables up to 50% reduction in sequencing costs.

Learn more at

PrecisionMed International Magazine // May 2024 69 TECH PROFILE: QIAGEN

“Resolve More” with your single-cell research

BioSkryb’s ResolveDNA and ResolveOME single cell product portfolio is empowering the transformation of cellular discovery and disease research through high-fidelity analyses of individual cells.

BioSkryb Genomics is ushering in the next generation of single-cell technology with industry-fi rst multiomic products, custom services, and cuttingedge computational biology. We enable the most complete multiomic view of the cellular ecosystem, including integration of whole genome and full-length whole transcriptome sequencing data from each cell. BioSkryb’s ResolveDNA and ResolveOME single cell product portfolio is empowering the transformation of cellular discovery and disease research through high-fidelity analyses of individual cells. Our products are broadly used in oncology, cell and gene therapy, neurology research, and in the preimplantation genetic testing (PGT) field.

Our patented, best-in-class whole genome amplification method, primary template-directed amplification (PTA), delivers the most complete and accurate coverage of single-cell genomes, and is the differentiated foundation of our ResolveDNA and ResolveOME single-cell core kits. These single-cell core kits provide an end-to-

end validated workflow for generating sequencing-ready libraries in under 8 hours, and conveniently include our PTA whole genome amplification, library preparation, and NGS adapter reagents. The ResolveOME Whole Genome and Transcriptome Single-Cell Core Kit layers-in our full-length whole transcriptome assay, providing insights into differential expression, including isoforms and gene fusion events, in the context of the genomic profi le from the same cell. Computational analysis is enabled by our cloud-based informatics platform, BaseJumper.

Our ResolveServices team offers custom project consultation and expert execution in our labs with your samples. We additionally provide an expanded application menu through ResolveServices, including cell-surface protein expression analysis, support for nuclei isolation from non-viable sample types, and exome enrichment for more focused single-cell studies. Custom computational support is additionally available as part of our ResolveServices programme. Learn more at

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Paving the future of Genomics Paving the future of Genomics Paving the future of Genomics

Optimising outcomes with biomedical visualisation: From patient education to innovative breakthroughs

Words alone can be hard to understand when used to explain biomedical processes and treatments. Pictures transcend language and lack of technical knowledge, making these concepts more accessible to all.

Artery Studios Inc.

Sessional faculty member, Biomedical Communications programme, University of Toronto

UWith the ongoing refi nement of medical knowledge to today’s level of nanotechnology, there’s a greater need than ever to clearly communicate biomedical science to varied audiences. Words alone can be hard to understand when used to explain biomedical processes and treatments. Pictures transcend language and lack of technical knowledge, making these concepts more accessible to all.


Studies show that visual communications enhance believability and retention of information, while speeding up the comprehension of complex issues. Medical illustrations and animations enable patients and their families to better understand options, thereby facilitating informed decision-making, increasing comfort level with proposed medical interventions, and improving satisfaction with healthcare providers.


With precision medicine, clear visual communications customised to the patient are more important than ever. Illustrations of the patient’s exact medical condition, created from personal records and imaging

datasets, can be used to explain medical conditions and specialised treatment protocols.


Medical education continues to advance with biomedical knowledge. Training is facilitated by virtual surgical environments as well as anatomical, cellular and molecular models. Integration of illustrations and animations into these e-learning platforms, as well as remote-treatment and robotic surgery training, optimises learning outcomes.


Many initiatives – from intricate devices to therapeutic regimens – involve fi nancing conversations. Funding pitches are made by innovators who know science and technology intimately, but often struggle to tell their stories persuasively. Biomedical visualisations improve understanding by investors, increasing their confidence in funding decisions.

As biomedical science continues to evolve, so must the use of clear visual communications, to maximise comprehension and foster informed decision-making.

Learn more by reaching out to Stephen Mader via

72 PrecisionMed International Magazine // May 2024

Revolutionising liquid biopsies: ddPCR’s role in cancer diagnosis and monitoring

Bio-Rad’s ddPCR technology offers unprecedented sensitivity in detecting cell-free and circulating tumour DNA, transforming oncological assessments and enhancing personalised medicine. With products like the ddPLEX ESR1 Mutation Detection Kit, this approach is setting new standards in breast cancer research and treatment.

UDroplet Digital PCR (ddPCR) is revolutionising the way scientists approach liquid biopsies, offering a non-invasive method to diagnose and monitor diseases such as cancer.

By detecting and quantifying cell-free DNA and circulating tumour DNA from blood or other bodily fluids, ddPCR provides a high level of sensitivity and precision. This technology is particularly valuable in oncology, where it is used for cancer detection, monitoring treatment responses, and trackingrecurrence. The advancements in ddPCR have made it a pivotal tool in personalised medicine, enabling more accurate and timely interventions.

The Bio-Rad ddPLEX ESR1 Mutation Detection Kit is a prime example of this technology in action, offering highly sensitive detection of key mutations in the ESR1 gene, which is crucial for breast cancer research.

This kit exemplifies the precision and potential of ddPCR to advance our understanding and treatment of complex diseases.

Discover the ddPLEX ESR1 Mutation Detection Kit & more, scan right to get in contact with your Bio-Rad specialist

PrecisionMed International Magazine // May 2024 73 TECH SPOTLIGHT: BIO-RAD
PrecisionMed International Magazine // May 2024 75 For the latest agenda, conference programme, more speakers, more investors, more partners, and further information, download the o icial EMERGE 2050 app. Just scan the QR code! EMERGE 2050 on your smartphone
8-9 MAY 2024 DUBAI WORLD TRADE CENTRE Co-located Wit h
Thank you to our sponsors and partners Founding Partner Community Partner Magazine Partner Event Venue O icial Magazine Organised By Co-located With Destination Partner Hospitality Partner For the latest agenda, conference programme, more speakers, more investors, more partners, and further information, download the o icial EMERGE 2050 app. Just scan the QR code! EMERGE 2050 on your smartphone 76 PrecisionMed International Magazine // May 2024 EMERGE 2050



Senior Vice President


Marwan Abdulaziz Janahi

is the Senior Vice President of Dubai Science Park, part of TECOM Group PJSC. DSP is the region’s rst free zone community that serves the entire value chain of the science sector, dedicated to supporting entrepreneurs, SMEs and multinational enterprises in this eld. DSP is home to almost 300 companies across life sciences, as well as the energy and environment sectors.

Marwan began his career at DSP as a Sales Manager, before being promoted to Business Development Director. He became Executive Director in 2013. Prior to this role, Marwan was a Business Analyst for DUBAL.

Marwan holds a Bachelor’s degree in Business Administration from the University of Texas, USA and has completed the Future Leaders Program for UAE nationals in 2007 and Developing General Management Potential from Cran eld University in 2008. He also graduated from a program on general education from the American University of Dubai (AUD) and successfully nished the INSEAD – UAE Consortium for Executive Development Program in September 2015.

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AYMAN SEMAAN Market Access & Pricing Lead BIOLOGIX



RANIA HAGGAG Pharmacovigilance Lead ORGANON


DR. SADYK GUSNIEV HealthTech Expert & Researcher INDEPENDENT

DR. SARPER TANLI Managing Director, MEA & Global Advisory MASS GENERAL BRIGHAM





EMERGE 2050 PrecisionMed International Magazine // May 2024 79






CHAMSI PASHA Chief Operation O icer DOCTORY

WILLEM BARALT Portfolio Chairman & Board Director INDEPENDENT











EMERGE 2050 80 PrecisionMed International Magazine // May 2024


Global Blockchain Association (GBA) is a non-profit association based in Washington DC, USA with an international presence in

500+ Government Offices

About Global Blockchain Association:

GBA team

Gerard Dache

4,000+ Members 50+ Chapters 50+ Work Groups

A Healthcare focussed Blockchain Maturity model to support healthcare services and data containing health information from Patient facing systems, Cohort systems, Reporting platforms, Audit & Authority management adhering to HIPAA , GDPR , ISO 13485 compliance.

Steve Henley

Executive Director Military Background, IT Consultant, GBA Founder, Blockchain Expert

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BLI is a global Healthcare library of decentralized resources & networking community. Blockchain Legal Institute is proud to offer a cutting-edge Continuing Legal Education (CLE) program tailored for legal professionals in Healthcare domain navigating the rapidly evolving field of blockchain technology offering: of healthcare domain.

1. Risk Management and Ethical Considerations in Healthcare integrations

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5. Intellectual Property Rights of Healthcare domain

Alejandro Mandujano

BMM Program Manager, Technology Industry Veteran, Blockchain Innovator

BLI team

Radhakrishnan Mahalingam

GBA Global Ops Director, GBA Ibero America

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EMERGE 2050 82 PrecisionMed International Magazine // May 2024

followed by patient interest from these segments. All the segments recognize the same three benefi ts: better outcomes, better quality of care, and improved patient engagement.

Healthcare executives appear measured in their expectations, perceiving hurdles to metaverse development specific to each segment of patients. For healthtech, medical device, and medtech companies, unclear regulation, high costs, and data ownership and privacy issues are top of mind for healthcare executives.

Adoption of the metaverse will emerge with unprecedented advancements, rather than merely accelerating due to ongoing healthcare demands in the GCC region.

The metaverse, across four segments of healthcare – providers, payers, biopharma, and medtech – has been uneven, but still, 90% of healthcare players expect their metaverse involvement to increase significantly very soon.

A few clinical use cases and clinical services where the metaverse is clearly seen as a competitive edge are listed below:


The metaverse symbolises a shift in healthtech technology from centres to every edge of the healthcare network, although a few challenges are still evident for various reasons:

1. Healthcare in the metaverse is still less mature than in other industries, and patients also have a knowledge gap regarding its applications and benefi ts.

2. Consumers in the healthcare domain lack expertise in how to use metaverse-related technologies in everyday clinical practice.

3. The development and upgrades of the metaverse are hindered by regulatory and data privacy concerns.


In conclusion, while aiming for a sustainable, seamless metaverse and addressing sustainable development goals, it is also necessary for the GCC ecosystem to design incentives to engage GCC patients and healthcare professionals, and to build a GCC ecosystem where creators can share and monetise their own cyber and physical content to support GCC healthcare services in the metaverse.

While the metaverse, as an integrative ecosystem of virtual worlds offering immersive experiences, also offers tremendous potential for a more inclusive and accessible digital realm.

Use Cases Targets Benefits Medical Training Training Medical & Clinical Professionals to Real-Life Scenarios Better Learning & Retention Diagnostics Lower Costs in the Long Term Greater Accuracy & Better Patient Outcomes Claims Data Standardised Claims Data Reduction On Payer Costs Clinical Care Navigation Improved Care Support Best Site of Care & Improved Care Navigation Elderly Care & Disability Care Assistance to Disabled & Elderly Groups Precise Supporting Services
2: Considered patient groups
3: Mind maps of a health metaverse
2 3 PrecisionMed International Magazine // May 2024 83 SPONSORED

True, women live longer than men on average, but they also experience chronic diseases differently and are disproportionately impacted by them.

he spectre of chronic disease looms large in discussions around population health. From diabetes and heart disease, to autoimmune disorders and mental health conditions, these long-term illnesses are a growing global burden, accounting for approximately 70% of all disease versus just 15% in 1900. Yet, a critical oversight persists –the underinvestment in women’s health.

True, women live longer than men on average, but they also experience chronic diseases differently and are disproportionately impacted by them. The fact that women were largely excluded from clinical trials until 1993 and remain underrepresented in clinical trials today means we still don’t know enough about these differences or how to address them. This lack of sex-disaggregated data has led to a one-size-fi ts-all approach that misses the nuances of how chronic diseases manifest and progress in women, resulting in worse health outcomes for women. For example, it takes four times longer on average to diagnose women with the same chronic diseases as men, even though they are twice as likely to see a doctor in the fi rst place.

This gap in understanding and treatment not only hinders individual wellbeing but also weakens overall population health and security. A 2024 report by McKinsey & Company estimated that closing the gender health gap could unlock a staggering $1 trillion in annual global GDP by 2040. It goes on to argue that a healthier female population translates to increased productivity and economic participation. Its claims are supported by the World Health Organizzation (WHO), which emphasises the importance of investing in the health of girls and women, not just for moral reasons, but for its demonstrable economic value.

The challenges faced by women in regions like the Middle East and North Africa (MENA) highlight the need for increased investment. Here, women grapple with increasing rates of infertility, limited access to quality healthcare, and societal stigmas surrounding issues such as periods to pelvic health, menopause to cancer. These factors exacerbate the

burden of chronic diseases, creating a vicious cycle. For example, 80% of breast cancers in the MENA are diagnosed at Stage 4, where women have a 27% fi ve-year survival rate, as opposed to 99% at Stages 1 and 2.


However, there are glimmers of hope. Initiatives like the UAE’s National Policy for Improving Women’s Health demonstrate a commitment to addressing gaps. This policy focuses on providing tailored healthcare throughout a woman’s life cycle, with a specific emphasis on chronic disease prevention and management.

Investing in women’s health requires a datadriven approach. Increased research specifically focused on how chronic diseases affect women is crucial. Additionally, allocating resources for sexdisaggregated health data collection is required to enable a more nuanced understanding of women’s specific health needs - at different ages and stages, and across diverse demographics. The market for digital health technologies targeting chronic diseases in women is projected to be worth $218 billion by 2027 (FemTech Focus).

Investing in women’s health isn’t just about fairness; it’s a strategic investment in the future of population health. Women are the cornerstone of families and communities, responsible for 80% of consumption decision-making and 80% of caregiving globally. When women are healthy, they are better able to manage their own chronic diseases and provide care for others. This creates a ripple effect, fostering preventative healthcare practices and healthier families. A proactive approach to investing in women’s health will not only empower women but also create a more robust and sustainable future where chronic diseases no longer hold such a dominant sway.

Special thanks to Sophie Smith for her guest contribution.

EMERGE 2050 PrecisionMed International Magazine // May 2024 85


Although these novel drugs are incredibly expensive and risky to develop, most biopharma businesses ask commercial questions too late.

Cell and gene therapies (CGTs) are the hot ticket in town. Yet, with prices going up to $4 million, who picks up the bill? Although these novel drugs are incredibly expensive and risky to develop, most biopharma businesses ask commercial questions too late. What market access barriers should they take into account? Ultimately, how can CGTs become more accessible, approvable, and affordable?

Let’s start by decoding the field.

THE CGTS: A MATCH MADE IN CAR-T CGTs are medicines based on genes, tissues, or cells. Gene-modified cell therapies, especially chimeric antigen receptor (CAR) T-cell therapies, are revolutionising how we treat cancer and rare diseases. Instead of making you feel better with a drug, your body can cure disease with the help of these disease-altering drugs. Previously untreatable diseases can be treated and even cured. The implications are enormous.

There is a lot of talk about how CGTs will change medicine, so why have only less than 3% of patients been treated?

With over 2,200 trials in 2023, the field is booming. However, unlike other drugs, CGT commercialisation faces unique barriers around capacity, approval, and

reimbursement. As a result, demand far outpaces supply.

As the Gulf region speeds up its CGT journey, let’s reflect on other countries’ experiences.



Key barriers include the following:

• Bespoke manufacturing: Manufacturing personalised living medicines is complex, timeconsuming, and uncertain. CGTs often involve extracting immune cells from a patient (autologous) or third-party donor (allogeneic), training them to target cancer, and reintroducing them to the body. This process does not scale well.

• Distribution bottleneck: CGT production needs to follow a precise choreography. However, the supply chain is clogged with logistical and administrative barriers. Finding patients, sites, and referral networks is challenging. Complex logistics, often involving international locations, insufficient infrastructures (cryonic transportation, GMP depots), and lack of standards add to the bottleneck.

Your product launch will be affected if you don’t plan for manufacturing and distribution when doing your R&D and designing your trial.

• Lack of evidence: CGT Trials are often short and based on surrogate endpoints, while the treatment effects are intended to be lifelong. How can payers justify approvals based on such minimal evidence? This mismatch between fast track designation and limited data delays approvals. For example, the approval of the Duchenne treatment Exondys 51 was delayed by six years due to insufficient evidence. Additionally, side effects remain a major concern, as exemplified by the headlines about Bluebird’s treatment causing secondary cancer in 0.25% of patients. Although more trials are

EMERGE 2050 86 PrecisionMed International Magazine // May 2024

needed, the FDA has clearly stated that the benefits still outweigh potential risks and approvals are accelerating. However, having regulatory approval does not guarantee commercial success. Most withdrawals in Europe were made for business reasons, not safety issues (6 out of 7 as of 2022).

The culprit? Pricing and reimbursement.

• Financial viability: CGTs are the most expensive medicines in the world. Orchard Therapeutics holds the record at $4.2 million for Libmeldy. Treating hundreds of thousands of patients is not viable with the current business models.

“Therapy developers must consider viability alongside safety and efficacy as primary endpoints during development and clinical testing well before seeking approval. Steep prices or lack of reimbursement can lead to commercial failures.” We can de-risk market access by answering the following:

What is the addressable population?

Patient identification and referrals make forecasts uncertain. Dendreon’s estimate of 2,000 patients at launch only accounted for 2% of demand. In contrast, Glybera, the fi rst gene therapy approved in Europe, treated only one patient.

How can small targets become economically attractive?

Although orphan status helps, the industry still prefers larger targets such as sickle cell. Rare diseases don’t make for blockbusters.

Who will fund the therapy, and how?

In Spain, pre-approval comes from the region and a national CAR-T expert group, while in Germany, it comes from the patient’s sick fund and medical review board. The process is slow and unclear.

What is the right price?

Health systems and insurers struggle to budget for such large amounts without guarantees. Manufacturers also struggle to negotiate reimbursement for drugs that may not work. Outcomes-based agreements (mainly risk sharing) are widely adopted to address this. The caveat? Even when the treatment is approved, the patient might not be able to afford the additional costs.


The existing access models aren’t ready to handle the upcoming influx of approved CGTs. We are just

seeing the tip of the iceberg.

“There is a disconnect between high product costs and profitability, and between access and affordability. The CGT business models are broken. Patients are falling through the cracks.”

So how can we make CGTs cheaper?

Scaling up production should improve capacity and reduce costs. But that is not the only way. Below, we will list some approaches that could shave off costs.

For example, fi rms can move production to cheaper locations. India’s fi rst CAR-T therapy costs a tenth of its US equivalent.

Manufacturing can also move to the point of care. The Hospital Clínic de Barcelona made and tested its CAR-T therapy for a fraction of what the name-brand medicines cost.

Shifting to allogeneic (off-the-shelf) therapies is promising. In 2022, Europe approved Atara’s allogenic T-Cell therapy for Epstein-Barr.

Regulation can help, too. From 2025, all European CGTs will undergo a single HTA assessment. The FDA’s Advanced Manufacturing Technologies (AMT) Designation paves the way for novel tech enablers.


How do you go from producing one drug to 1000 faster and cheaper? Through automation platforms like Ori Biotech’s which close, automate, and digitise manufacturing can streamline production, increase throughput and reliability while reducing costs. Recently, Bristol Myers announced a partnership with Cellares to manufacture cell therapies at an industrial scale.

Digital workflow solutions can also join fragmented pathways, from cellular orchestration to logistics and procurement, and make data sharing interoperable and compliant. Today’s paper based batch records and QA/QC processes will continue to be a barrier to scale until addressed.

We couldn’t fi nish without mentioning AI. Some interesting use cases are target identification, patient selection or pharmacotoxicology such as Ori’s AI driven predictive model for cell counting.


CGTs usher in a new era of care, but commercial viability is light years behind.

Therapy developers need to address manufacturing and ensure commercial viability during early development.

It will take joint effort and creativity to make those novel treatments accessible, approvable, and affordable. The shift from chronic treatment to potential curative pathways is complicated. Solving new problems with old approaches will not work.

Let’s fi nd a way to get the right drug to the right patient at the right price.

One cell at a time.

Special thanks to Pilar Fernandez Hermida for her guest contribution.

EMERGE 2050 PrecisionMed International Magazine // May 2024 87


Are you ready to join us in Saudi Arabia? 2024 brings not one, but two, editions of the PrecisionMed Exhibition & Summit (PMES). You’re already familiar by now with the United Arab Emirates edition, but this winter sees the arrival of PMES KSA 2024, set to take place 21-22 October at the Crowne Plaza Riyadh – RDC Hotel and Convention.

Discover the cutting edge of healthcare innovation at PMES KSA 2024, where the future of medicine not only is personal, but it’s precise. The debut show in the Kingdom promises a pivotal platform for professionals and organisations aiming to redefi ne the medical landscape.

And PrecisionMed International is proud to announce the event’s fi rst special guest.

Professor Patrick Tan, Executive Director of Precision Health Research, Singapore (PRECISE), as well as Senior Vice Dean (Research) at DukeNUS Medical School is set to give an exclusive keynote at PMES KSA 2024. Professor Tan is also the Chief Scientific Officer for the Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR).

Speaking ahead of the event, he tells us: “It is my privilege to speak at the upcoming PMES KSA 2024 in October and provide a deep dive into the transformative journey of healthcare through the lens of precision medicine in Singapore.

“I will be discussing how Singapore’s National Precision Medicine Programme (NPM) is utilising genomic, phenotypic and clinical data for improving healthcare outcomes across multi-ethnic Asian populations. In particular, I will share Singapore’s experience in establishing the world’s largest multi-

With a mission to help pioneer precision medicine in the Kingdom of Saudi Arabia, the inaugural PrecisionMed Exhibition & Summit KSA takes place this winter. And top Singapore-based precision health expert, Professor Patrick Tan has been confirmed for the event.

ethnic Asian reference database, SG10K_Health, and the ongoing efforts to scale this database under the PRECISE-SG100K project.

“The PRECISE-SG100K project is the landmark study of NPM Phase II, which aims to illuminate the unique health challenges and opportunities within Asian populations, contributing significantly to the global understanding of precision medicine in the Asian context.

“In addition, I look forward to learning more about the genomic programmes around the world; [how] each [are] contributing uniquely to our collective understanding of human health and disease. Among these, Saudi Arabia’s Human Genome Program (SHGP) stands out for its tailored approach to address the specific health challenges and genetic characteristics of the Saudi population. The SHGP, alongside similar endeavours worldwide, underscores our shared commitment to leverage genomic data to enhance patient care, advance our understanding of genetic diseases, and foster innovation within the precision medicine industry.


“I look forward to a rich dialogue on the successes, challenges, and future directions of precision medicine. Together, through sharing knowledge and experiences, we can pave the way for more personalised, efficient, and effective healthcare systems globally.”

KSA IN FOCUS 88 PrecisionMed International Magazine // May 2024

The Saudi Genome Program stands out for its tailored approach to address the specific health challenges and genetic characteristics of the Saudi population.”

The 2024 Saudi edition of PrecisionMed Exhibition & Summit is set to feature a host of panels, presentations and events, including by Strategic Platinum Partner, NEOM.

And don’t miss a special GCC appearance by Dr. Heidi Rehm, Harvard University professor and Chief Genomics Officer for the Center for Genomic Medicine and Department of Medicine at Massachusetts General Hospital.

From direct attendee interactions and exhibition stands to thought leadership opportunities through speaking engagements, PMES KSA 2024 is your gateway to unparalleled product visibility and brand enhancement.

To speak or exhibit at PMES KSA 2024 this winter, get in touch with

KSA IN FOCUS PrecisionMed International Magazine // May 2024 89


Abdulelah Alissa, Business Development Manager for West Asia and Africa at Saphetor explains how Saudi Arabia’s genetic diversity is key to the Kingdom becoming a global leader in genomics.

audi Arabia has positioned genomic healthcare prominently in its Vision 2030 initiative, with a key focus on personalised healthcare. The Kingdom is actively sequencing its population’s genomes and tailoring treatments based on genetic profi les to enable early detection of genetic diseases.

Abdulelah Alissa, Business Development Manager for West Asia and Africa at Saphetor, shares his thoughts on how Saudi Arabia’s genetic diversity can help it become a global leader in genomics through various initiatives, such as the Saudi Human Genome Program.

What is the targeted impact of genomic medicine as part of the Kingdom of Saudi Arabia’s Vision for 2030?

Genomic medicine is a crucial component of the National Biotechnology Strategy for Vision 2030, and its targeted impact includes its primary purpose to lead an era of personalised healthcare. Genomic medicine seeks to create medical treatments uniquely tailored to everyone’s genetic profi le, which promises a more efficient healthcare system. This innovative approach extends to preventative medicine, allowing for early intervention and reducing the burden of genetic diseases by identifying those at higher risk. Genomics catalyses research and innovation in

the Kingdom in healthcare and industries such as agriculture, biotechnology, and drug development. These initiatives will begin a chain reaction of advancements that will alter the scientific landscape of Saudi Arabia. Strategic investments in genomics and its applications cultivate new growth opportunities in healthcare and biotechnology, boosting economic diversification. Saudi Arabia aspires to become a global leader in genomics and precision medicine, thereby enhancing the country’s international standing in healthcare and research and demonstrating genomic medicine’s significant impact on the Vision 2030 mission.

Genomic medicine is a crucial component of the National Biotechnology Strategy for Vision 2030, and its targeted impact includes its primary purpose to lead an era of personalised healthcare.”

90 PrecisionMed International Magazine // May 2024 KSA IN FOCUS

What has shaped Saudi Arabia’s approach to genomic healthcare?

Saudi Arabia’s aspiration to be a genomics and precision medicine leader relies on dynamic programmes and initiatives. The Saudi Human Genome Program (SHGP) aims to sequence the Saudi population’s genomes and investigate associations between genetic variations and health conditions to develop personalised interventions. In addition to SHGP, biobanks for preserving genetic samples and amassing health data are essential for genomics.

Significant investments in the Centre of Genomics Medicine at King Faisal Specialist Hospital and Research Centre in medicine and translational genomics have been made, including state-of-the-art laboratories and computing facilities for genomics, enhancing the Kingdom’s standing in this scientific field.

Multiple factors contribute to the project’s viability. Saudi Arabia’s enormous fi nancial resources allow for substantial investments in research and infrastructure, ensuring a world-class genomics ecosystem. Moreover, the Saudi population’s genetic diversity enables extensive research into genetic variations and disease susceptibility, thereby generating new opportunities for innovative research and applications in genomics and precision medicine.

PrecisionMed International Magazine // May 2024 91 KSA IN FOCUS

There is a clear ambition to position the Kingdom of Saudi Arabia as a renowned global leader in genomics. What programmes and initiatives are going to establish that, and what makes the opportunity so viable in your opinion?

The ambition to position the Kingdom as a global leader in genomics through the National Biotechnology Strategy reflects the country’s recognition of biotechnology’s transformative potential in various sectors, including healthcare, agriculture, and industry. Genomics, in particular, holds immense promise for personalised medicine, disease prevention, and understanding the genetic basis of various traits and diseases. By investing in genomics research, infrastructure, and education, the goal of Saudi Arabia is to foster innovation, attract talent, and build a knowledge-based economy.

This strategy aligns with its broader national goals of economic diversification and a reduction in the dependency on oil revenues. Key components of this National Biotechnology Strategy may include:

• Research and Development: Funding and support for research in genomics and related fields to advance scientific knowledge and develop innovative technologies.

• Infrastructure Development: Building stateof-the-art research facilities, laboratories, and computational resources necessary for genomics research and analysis.

• Collaboration and Partnerships: Fostering collaboration with leading international institutions and companies to leverage expertise, resources, and networks.

• Regulatory Framework: Establishing the regulatory framework to ensure ethical conduct, data privacy, and safety in genomics research and application.

• Commercialisation and Industry Development: Supporting the translation of research fi ndings into commercial products and services to foster the growth of a vibrant biotechnology industry within the Kingdom.

What are the most important enabling technologies today?

With the vast advancement we see from different sequence providers and the significant decrease in the cost of sequencing, the burden of implementing genomics in clinical or research settings comes from the data analysis and interpretation. That’s why we at Saphetor believe that VarSome can be the trusted solution to overcome these challenges.

Our mission is to enable anyone to fi nd, share, and use the most comprehensive human genome data –and to collaborate to improve health and lives around the world.

VarSome was built with shared knowledge from more than 500,000 healthcare professionals from over 150 countries and incorporates knowledge from more than 140 datasets, aggregated, crossreferenced, and constantly updated, integrated into our germline and somatic classifiers.

We don’t stop here as we are considered one of the unique companies in the world that provide a complete solution for NGS data analysis, as well as on-premises installation, to help our customers with strict regulations regarding genetic data leaving their country, which can be a challenge for countries like those in the Middle East.

Abdulelah Alissa is the Business Development Manager for West Asia and Africa at Saphetor. He has extensive experience in genomics in the region, having worked with leading corporations such as Illumina, Thermo Fisher Scienti c, and Fulgent Genetics. He holds a Master’s degree in Medical Molecular Biology with Genetics from Bangor University in the UK. In addition to his corporate experience, Alissa has contributed to multiple national projects in the region, including the Saudi Human Genome Project and the National Reference for Lung Cancer in Saudi Arabia.

VarSome Clinical is a CE-IVD-certi ed and HIPAAcompliant platform that facilitates fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels. This assists clinicians in making quicker and more precise diagnoses and treatment decisions for genetic conditions. VarSome can also be integrated into existing in-house pipelines via the VarSome API, through cloud-based or on-premises installations. Learn more about the on-premises installation of VarSome Clinical via

92 PrecisionMed International Magazine // May 2024 KSA IN FOCUS

With its phenomenal success in the region so far, PrecisionMed Exhibition & Summit (PMES) is proud to announce its debut in the Kingdom of Saudi Arabia this winter.

PMES KSA 2024 will take place in Riyadh, at the Crowne Plaza RDC, delivering two days of informative presentations, engaging talks, and exciting technology showcases.

Strategic Platinum Partner

My adventure at PrecisionMed Exhibition & Summit 2023,

and what I want to see in

healthcare going forward

ave you ever been a speaker at a healthcare conference before? Even though I was only 13, I was invited to be a special speaker to share my story at the 2023 edition of the PrecisionMed Exhibition and Summit (PMES) in Dubai to help raise awareness about my rare disease, mucopolysaccharidosis type VI (MPS VI).

When I stood on stage at PMES, I felt excited and confident, as if I owned the stage. It was amazing to be surrounded by so many smart and professional people who were all passionate about improving healthcare. Sharing my journey with MPS VI and my weekly treatment was nerve-wracking at fi rst, but as I spoke, I felt more confident, knowing that everyone was interested in what I had to say.

I learned that healthcare professionals are continually striving to stay updated and educate themselves more about diseases, cures, and medications.

During the event, I discovered how new technologies are changing the way doctors and scientists understand and treat illnesses. I learned how computers are helping researchers fi nd new ways to personalise treatments for each person, making healthcare more effective and efficient.

Now, a year later, I’ve been reflecting on what I learned and how I can make a difference. I’ve been paying more attention to my health habits, like eating well and staying active. I still believe that technology has the power to improve healthcare for everyone, and I hope to be part of that change someday.

Currently, I’m still fortunate to be in the UAE, receiving the same treatment. I’m looking forward to continuing my treatment without having to worry about it being stopped, but my trust in everything is in Allah’s hands; Allah’s plans are always the best. I am very satisfied with and grateful for the treatment I receive through the gracious support of the UAE government and health providers.

I want to see a future where everyone has access to quality healthcare, no matter where they live or how much money they have.”

Looking ahead, I want to see a future where everyone has access to quality healthcare, no matter where they live or how much money they have. I also believe it’s important for people to work together and share their knowledge so we can solve big problems like improving healthcare and ensuring all patients receive their medical treatment without worry.

I would love to see a future where health insurance companies do not impose limits or caps on the treatment of rare conditions. We wish to have special coverage for all patients with rare diseases, regardless of the coverage limit, because it is a matter of life or death.

I always say: Keep doing what you do, don’t let anyone ever stop you, stay bright, and keep shining like a diamond.

Saba Hamasha, 14, is a Dubai-based member of the UAE Rare Disease Society. Here at PrecisionMed International, our mission is to raise awareness of the great work the precision medicine community is doing to enable a better future for all.

94 PrecisionMed International Magazine // May 2024 FINAL REFLECTIONS
Next-Generation Sequencing (NGS) Genotyping Pharmacogenomics Olink® Service Provider OUR SERVICES Presenting Groundbreaking Science in Diabetes –Transforming Patient Pathways
Speaker: Shaun David Randles BA,
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At Technology Innovation Institute, we are pushing the boundaries of applied research with the real world of tomorrow in mind. We are making a di erence to the future the UAE and our planet by working at scale and at speed across ten research centers. We work with excellence and curiosity. We don’t simply ask ‘why?’, we ask ‘why not?’ and ‘what if?’.

From state-of-the-art facilities in Abu Dhabi to global partnerships. We catalyze change in the fields of alternative energy, advanced materials, autonomous robotics, biotechnology, cryptography, digital science, directed energy, propulsion and space technologies, secure systems and quantum engineering.

Discover more about the vital questions we’re asking at

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