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Precision Medicine Dynamic Briefing Generated 27 January 2021 for Marco Antonio Gonzalez


Precision Medicine Co-curated with Washington University in St. Louis Last review on Thu 10 January 2019

About This dynamic briefing draws on the collective intelligence of the Forum network to explore the key trends, interconnections and interdependencies between industry, regional and global issues. In the briefing, you will find a visual representation of this topic (Transformation Map – interactive version available online via intelligence.weforum.org ), an overview and the key trends affecting it, along with summaries and links to the latest research and analysis on each of the trends. Briefings for countries also include the relevant data from the Forum’s benchmarking indices. The content is continuously updated with the latest thinking of leaders and experts from across the Forum network, and with insights from Forum meetings, projects communities and activities.

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Executive summary The ultimate goal of Precision Medicine, also referred to as Personalized Medicine, is to enable the use of information about a patient’s genes and environment. Physicians and scientists can utilize this data to more accurately identify or predict disease, delay or prevent the onset of disease, and develop more effective treatment. This could be aided by sciences like genomics, developing technology to better parse massive data sets, and by improving our understanding of the relationship between differences in DNA and basic biological mechanisms. Precision Medicine faces challenges, however, related to the healthcare workforce, costs, equal access to care, and data privacy. This briefing is based on the views of a wide range of experts from the World Economic Forum’s Expert Network and is curated in partnership with David H. Perlmutter, MD, executive vice chancellor for medical affairs and dean of Washington University School of Medicine.

1. Avoiding Disparities Genomic research must be more inclusive in order for the promise of Precision Medicine to be realized.

2. Ethics and Legality Protecting privacy must be a part of enabling advances in healthcare.

3. Multi-omics Science Assessing multiple biomolecules can enable a deeper understanding of health and disease.

4. A Precise Approach to Prevention Systems-level approaches can better enable disease prevention and control.

5. Data Into Action Making use of big data can generate useful insights and improve health care.

6. A New Way to Probe DNA Biological organisms will be a crucial testing ground for understanding genetic variations underlying disease.

7. The Cost of Precision Medicine Precision Medicine potentially offers a way to reduce costs, but challenges remain.

8. Redefining Health and Disease Diseases are being reclassified, thanks to the integration of “omics”.

9. Preparing for Precision The healthcare workforce must be trained to deliver Personalized Medicine.

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Avoiding Disparities Genomic research must be more inclusive in order for the promise of Precision Medicine to be realized Important health discoveries have been made using genomic technologies such as those used to sequence and analyse DNA. However, it is necessary to capture genomic information (related to all of the genetic code within a cell) from a wide range of people in order to avoid increasing health disparities. Early genomic research focused primarily on populations with European ancestry; in 2009, 96% of the people accounted for in genome-wide association studies (or GWAS) were of European descent. By 2016, diversity in GWAS studies had improved - 19% were of non-European ancestry, with most of the growth among those of Asian ancestry. GWAS studies have shown that different genes among different ethnic groups may be implicated in both genetic and communicable diseases. In the National Heart, Lung, and Blood Institute’s Trans-Omics for Precision Medicine (TOPMed) program, which began in 2014, African American genomes make up 26% of the total analysed, while Hispanic/Latino genomes make up just 10% - nonEuropean genomes clearly remain underrepresented. Unless genomic research becomes more inclusive, minority populations will not realize the promise of Precision Medicine, and health disparities will only continue to grow. Genomic architecture can vary widely across populations, and rare variants - important for determining disease risk and drug response - tend to be population-specific. However, incorporating diverse populations in genomic research presents methodological and analytical challenges. The research community must therefore develop and incorporate new research designs and analytic tools necessary to overcome these challenges. The inclusion of diverse populations in the design of a research study must also be rewarded. Advances in genomics research should help to ameliorate, rather than contribute to health disparities among diverse populations. In addition, it is possible that the inclusion of diverse populations will bring the benefit of identifying important genes and pathways for a variety of diseases, and improve overall human health. Related insight areas: Global Health, Justice and Law, Healthcare Delivery, Public Finance and Social Protection, Values

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Latest knowledge The Science Breaker

Carnegie Endowment for International Peace

The Trojan mosquito: an in-house parasite defends against malaria

The Blessing and Curse of Biotechnology: A Primer on Biosafety and Biosecurity

26 January 2021

20 November 2020 Malaria is a life-threatening tropical disease globally spreading out, and scientists have been seeking an effective way to control its prevalence. Here, we propose an innovative approach that prevents disease transmission by infecting mosquitoes with a newly found beneficial parasite.

The coronavirus pandemic has brought into sharp focus the possible benefits and potential pitfalls of biotechnology research. Although such research can be used to produce medical countermeasures to fight diseases and develop healthier crops and livestock, it can also be deployed to produce biological weapons. Even though the current pandemic, as argued by most scientific experts , is believed to have originated from natural sources, the origin of this particular pandemic does not rule out the possibility that other future infections could emerge from laboratories. .

Imperial College London

Vaccine collaboration could overcome cold chain issues for RNA-based vaccines 07 January 2021 Imperial vaccine researchers are collaborating with industry partners to develop RNA vaccines stable at temperatures up to 40C. World Economic Forum

3 lessons from our immune systems on how to tackle COVID-19 11 December 2020 Here are three ways to decode the signals from our immune systems to help us understand and fight COVID-19 - and to prepare us for any future pandemics. The Conversation

This brain protein may be key to treating Parkinson's – study in rats shows 03 December 2020 Parkinson’s disease, a brain disorder that affects over 10 million people worldwide, is caused by the gradual loss of dopamine neurons. The loss of these neurons leads to involuntary tremors, stiffness and balance problems. While there are drugs to treat these symptoms, no drugs exist to slow the progression of the disease. However, we found a brain protein that may be able to prevent the loss of dopamine neurons. This discovery could be important for developing treatments.

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Ethics and Legality Protecting privacy must be a part of enabling advances in healthcare A serious downside to a fully-realized future for Precision Medicine (or "Personalized Medicine") is the fact that the genomic and other biological data included in personal medical records will be subject to potential misuse by bad actors with financial or other incentives. Without strong, enduring privacy laws, people with a certain genotype (or genetic makeup) may find themselves uninsurable, unemployable, or otherwise discriminated against. Genomic data can also accurately identify parentage, which could lead to invasions of privacy in cases such as adoption proceedings. Ethical and legal considerations regarding who may access individual genomic and other data, and how that data is used, are of paramount concern. In addition, rules governing the use of patient data for research purposes (often called "secondary use," as the data is used beyond the scope of immediate clinical care) are critical. Secondary use requires a balance between a person's right to privacy and the need to create a healthcare system where every patient encounter can be an opportunity to improve care. Efforts to achieve such a balance can be aided by improved informed consent and risk communication, and by robust data deidentification and synthesis techniques. The relative cost of Precision Medicine may be high, due to the technology required and the expense of developing individualized medicines and treatments. However, cost savings are also possible, as ineffective treatments may be avoided for some patients. Ensuring access to Precision Medicine for everyone is critical, so that disparities in health care outcomes are not exacerbated. Another potentially problematic aspect of Precision Medicine, from an ethical standpoint, is the use of genomic information that predicts disease where there is no actionable treatment or preventative available; advance knowledge of an untreatable condition may reduce the quality of life. The question of when people should be informed of their risk of untreatable disease promises to continue to present thorny ethical issues. Related insight areas: Mental Health, Values, Healthcare Delivery, Insurance, Future of Health and Healthcare, Justice and Law, Public Finance and Social Protection

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Latest knowledge RAND Corporation

Imperial College London

Injury Scoring

Arthritis drug effective in treating sickest COVID-19 patients

21 January 2021

19 November 2020 In this essay we review the recent history of injury outcome prediction and suggest how the future may play out.

Critically ill COVID-19 patients treated with an arthritis drug are significantly more likely to have improved outcomes, a study has found.

VoxEU

Valuing gene therapies for orphan pediatric disease

Nature

Timely book tells the CRISPR story so far

23 December 2020

03 November 2020 Gene therapy offer patients the promise of improved health, longevity, and hope. However, the infancy of the technology and its sizable impact on budget conscious payers raises fundamental questions regarding gene therapy’s value. This column addresses the challenges associated with its value assessment and suggests initiatives which may help address these issues. Given payers’ reliance on value assessments to decide whether to provide access to these technologies and innovators’ reliance on such assessments to set prices, further analytic research in this direction is essential.

A gene-editing primer maps the solid ground better than the quagmires.

RAND Corporation

Distress, Impairment, and Racial/Ethnic Differences in Perceived Need for Mental Health Treatment in a Nationally Representative Sample 16 December 2020 Differences in perceived need across racial/ethnic groups are not attributable to differences in psychological distress and impairment. Science Daily

Advancing gene editing with new CRISPR/Cas9 variant 04 December 2020 Those two key problems -- safety and efficacy -- are what continue to hold CRISPR-Cas9 gene targeting back from its full clinical potential, explains co-senior author Y. Eugene Chen, M.D., Ph.D., a professor of internal medicine, cardiac surgery, physiology, pharmacology and medicinal chemistry, from the Michigan Medicine Frankel Cardiovascular Center. The new CRISPR-Cas9 variant improves efficiency when inserting a gene or DNA fragment to a precise location in the genome, known as knocking in.

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Multi-omics Science Assessing multiple biomolecules can enable a deeper understanding of health and disease We are increasingly recognizing that our individual variations in the form, function, and complexity of the interaction of our biomolecular parts translate into unique health requirements and risk of disease. Even diseases once presumed to be simple, in the sense that a specific gene was thought to cause the disease, are now being recognized as more complex in terms of both severity, and in terms of potential for treatment in light of environmental factors like diet. Accordingly, the precision-based and personalized maintenance of health, and the diagnosis and treatment of disease, requires the coordinated collection and analysis of so-called “multi-omics” datasets that are culled from tissue. “Omics” approaches to biomedicine (involving fields that end in “-omics”) comprehensively assess biomolecules like genes and proteins at a scale equal to entire cells and organisms. That means that while genetics is the study of the form and function of specific genes, genomics is a high-throughput interrogation of all of the genes in an organism; transcriptomics is meanwhile the system-wide study of gene expression, while metabolomics relates to metabolites (the products of metabolism, such as amino acids), and proteomics are tied to proteins. The application of machine learning and other statistical patternrecognition tools to multi-omics datasets can facilitate a shift from reactive medicine to a fundamentally proactive form of predictive and precision health. Related insight areas: Global Health, Biotechnology, Healthcare Delivery, Future of Computing, Chemical and Materials Industry

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Latest knowledge Project Syndicate

Science Daily

The Promise and Peril of the BioRevolution

Folding of SARS-CoV2 genome reveals drug targets -- and preparation for 'SARS-CoV3'

26 January 2021

21 November 2020 Many of today’s biological innovations are complex, and we need to understand them fully to gauge their impact on our lives and societies. Only by working together can governments, scientists, businesses, and the public unleash the power of biology for good while effectively managing the risks.

Researchers report having observed the RNA folding structures of the SARS-CoV2 genome with which the virus controls the infection process. Since these structures are very similar among various beta corona viruses, the scientists not only laid the foundation for the targeted development of novel drugs for treating COVID-19, but also for future occurrences of infection with new corona viruses that may develop in the future.

The Science Breaker

Understanding how COVID-19 Patients shed viral particles into their environment

STAT

'Stealth' VC firm Aditum Bio launches new biotech startup - STAT

04 January 2021 A study of the surfaces, objects and the air inside and around rooms housing COVID-19 patients helps us to understand how infected people spread the virus. The results of this study can help protect doctors and nurses providing care and can help inform effective protective measures for everyone.

02 November 2020 Joe Jimenez, a former Novartis CEO, and Mark Fishman, the former head of the Novartis Institutes for BioMedical Research, announced a new biotech startup on Monday: Tempero Bio.

VoxEU

Promoting parental involvement in schools 18 December 2020 Parents play an important role in their children’s educational experiences and outcomes, but they often face challenges when supporting their children through school. This column examines the effects of parental involvement programmes implemented at scale by the national government of Mexico. The results suggest that low-cost, group-based information interventions can increase parental engagement in schools, change parenting behaviour at home, and improve children’s behaviour in school. The impacts were particularly large for indigenous families, suggesting that parental involvement programmes can help improve school-family relationships for the most excluded populations. Nature

How blockchain and genetic engineering could make food safer for people with allergies 02 December 2020 The two technologies might ultimately bring an end to ‘may contain’ food labels, which consumers find confusing. The two technologies might ultimately bring an end to ‘may contain’ food labels, which consumers find confusing.

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A Precise Approach to Prevention Systems-level approaches can better enable disease prevention and control Simplified problem solving can result in incomplete solutions, when it comes to complex biological or life science-related phenomena. By way of contrast, systems science methods assess complex problems comprehensively, by analysing interactions that influence or predispose the ways that living things are built and function. The need for systems-based approaches is particularly pressing when it comes to evaluating factors that influence human health and well-being - because the onset of disease is usually the result of a complex interplay of factors including individual genomic profile, clinical phenotype (or the interaction between a genetic makeup and the environment), behaviour, social conditions, and the environment. The delivery of Precision Medicine should involve not only more precise approaches to the diagnosis and treatment of disease, but also to the prevention and control of related factors prior to the onset of disease. As our ability to measure factors that impact health and wellbeing improves, we must also develop systems-based scientific techniques that help us understand how data can be used to better support health and wellness. A genuinely improved understanding will require multi-disciplinary approaches that cross organizational boundaries, and the application of biomedical informatics and data science theories and methods. In addition, the incentives and drivers underpinning current healthcare delivery models will need to be realigned, in order to better engage care providers in the promotion of health and well-being that goes beyond hospitals and clinics. Ultimately, the use of systems science to deliver personalized approaches to health promotion should disrupt the current healthcare delivery system, lead to better outcomes, and reduce the fiscal and social burdens associated with disease. Related insight areas: Public Finance and Social Protection, Global Health, Behavioural Sciences, Vaccination, Future of Computing, Healthcare Delivery, Digital Economy and New Value Creation, Future of Health and Healthcare

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Latest knowledge The Conversation

The Conversation

Big data can help doctors predict which COVID patients will become seriously ill

Five serendipitous medical discoveries – starting with the Oxford vaccine dose 24 November 2020

19 January 2021 You might assume that all great medical discoveries are the result of deliberate action on the part of scientists. You’d be wrong. Many great discoveries are the result of accidents, mistakes and chance. Here are five of the best, starting with the most recent.

The pandemic continues to pose huge challenges to health services worldwide. Hospitals are in crisis as the pace of new COVID-19 cases outstrips their capacity. What makes things particularly difficult is that the coronavirus doesn’t affect everyone in the same way. Being able to better predict which patients will get seriously ill would allow hospitals to use their stretched resources more effectively. Armed with such information, hospitals could stop admitting patients who are at low risk of deteriorating and avoid administering unnecessary treatments.

Chemistry World

Crispr, not just for gene editing 30 October 2020 Crispr–Cas is part of an ancient bacterial immune system that detects and chops up invading viruses’ DNA Thanks to the 2020 chemistry Nobel prize , Crispr–Cas systems will forever be associated with gene editing. It’s worth mentioning that the system is also finding uses elsewhere, because at its heart is a dna detector: an rna guide that can be designed to hunt specific targets. Coronavirus has become one of those targets.

Nature

The lightning-fast quest for COVID vaccines — and what it means for other diseases 18 December 2020 The speedy approach used to tackle SARS-CoV-2 could change the future of vaccine science. McGill Reporter

What makes certain groups more vulnerable to COVID-19? 16 December 2020 Researchers look to animals to find clues in proteins involved in infection The post What makes certain groups more vulnerable to COVID-19? appeared first on McGill Reporter . Scientific American

Take Racism Out of Medical Algorithms 01 December 2020 COVID-19 has wreaked havoc on Black and Indigenous communities and other people of color, and U.S. medical institutions should be doing everything they can to root out and eliminate entrenched racial inequities. Yet many of the screening assessments used in health care are exacerbating racism in medicine, automatically and erroneously changing the scores given to people of color in ways that can deny them needed treatment. These race-based scoring adjustments to evaluations are all too common in modern medicine, particularly in the U.S. To determine the chances of death for a patient with heart failure, for example, a physician following the American Heart Association's guidelines would use factors such as age, heart rate and systolic blood pressure to calculate a risk score, which helps to determine treatment.

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Data Into Action Making use of big data can generate useful insights and improve health care Biomedical informatics and data science help to translate data into actionable insights, which can in turn accelerate scientific discovery, improve care for individual patients, and impact the health of entire populations. These disciplines can intersect with the computational, quantitative, health, life, social, and behavioural sciences in formidable ways. In the context of Precision Medicine, often referred to as Personalized Medicine, the use of biomedical informatics and data science theories, methods, and tools have become increasingly critical. This is particularly true as we seek to advance our collective understanding of how bio-molecules, clinical features, and environmental factors correlate with disease risk, diagnoses, and the planning of treatment - and, perhaps even more importantly, how these features correlate with the maintenance of health before the onset of disease. Recent advances in artificial intelligence, machine learning, mobile computing, sensors, and human-computer interaction are extending the scope of data and analytical methods in ways that better enable the delivery of Precision Medicine. This has only amplified the unique and central role played by biomedical informatics in improving the health of entire populations. Related insight areas: Internet of Things, Biotechnology, Fourth Industrial Revolution, Data Science, Future of Computing, Artificial Intelligence, Healthcare Delivery

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Latest knowledge RAND Corporation

Scientific American

Wellcome Sanger Institute and Wellcome Genome Campus Landscape Review

Whole-Genome Synthesis Will Transform Cell Engineering 13 November 2020

19 January 2021 Early in the COVID-19 pandemic, scientists in China uploaded the virus's genetic sequence (the blueprint for its production) to genetic databases. A Swiss group then synthesized the entire genome and produced the virus from it —essentially teleporting the virus into their laboratory for study without having to wait for physical samples. Such speed is one example of how whole-genome printing is advancing medicine and other endeavors. Whole-genome synthesis is an extension of the booming field of synthetic biology. Researchers use software to design genetic sequences that they produce and introduce into a microbe, thereby reprogramming the microbe to do desired work— such as making a new medicine.

RAND Europe was commissioned by Wellcome to analyse the role and contribution of the Sanger Institute and the Wellcome Genome Campus within the field of genetics and genomics, set within the context of four comparator organisations. Project Syndicate

Long Live the Bio-Revolution 30 December 2020 The COVID-19 pandemic has increased threats to food security around the world, underscoring the need for innovation to make agriculture and aquaculture more resilient and efficient. Fortunately, the biological innovations needed to do just that are quickly becoming competitive and scalable. Ecole Polytechnique Fédérale de Lausanne

Bacterial nanopores open the future of data storage 14 December 2020 Bioengineers at EPFL have developed a nanopore-based system that can read data encoded into synthetic macromolecules with higher accuracy and resolution than similar methods on the market. The system is also potentially cheaper and longer-lasting, and overcomes limitations that prevent us from moving away from conventional data storage devices that are rapidly maxing out in capacity and endurance. . Scientific American

Viruses Can Help Us as Well as Harm Us 01 December 2020 This year millions of people around the world have radically changed their way of life to avoid contact with other people and, thus, the novel coronavirus. Despite social distancing, many have still gotten sick in part from other viral infections. That is because, as scientists are increasingly learning, many viruses are lurking quietly in the human body, hidden away in cells in the lungs, blood and nerves and inside the multitudes of microbes that colonize our gut. Biologists estimate that 380 trillion viruses are living on and inside your body right now —10 times the number of bacteria. Some can cause illness, but many simply coexist with you.

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A New Way to Probe DNA Biological organisms will be a crucial testing ground for understanding genetic variations underlying disease In order to determine if a particular DNA sequence variant contributes to a disorder or disease state, modern genomics has mostly depended on statistical methods - which show a correlation between a sequence variant and a disease. However, the next, big step in the genomic revolution will be the direct testing of sequence variants in appropriate biological organisms, to determine the effects on these organisms. This new testing approach includes sequence variants that are being investigated for the primary causation of genetic disease, as well as for genetic modifiers (genes that can affect or interfere with other genes). The investigation of genetic modifiers in particular can enable us to better understand the variation (in terms of clinical severity) of a wide variety of disorders. This information in turn has enormous potential to help determine which affected individuals should be aggressively targeted for therapeutic intervention, and which should instead receive minimal, or even no intervention. CRISPR technology, used for gene editing, has meanwhile enabled the rapid introduction of genetic variants into multiple organisms. Mammalian cell lines, simple model organisms such as yeast, algae, worms, fruit flies, mouse cells, and stem cells that can regenerate indefinitely, will all be essential for this approach. They may foster a deeper understanding of how putative sequence variants perturb cellular homeostasis, while revealing novel targets for therapeutic intervention and opening up entirely new areas of biological investigation. Related insight areas: Chemical and Materials Industry, Future of Health and Healthcare, Global Health, Healthcare Delivery, Biotechnology

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Latest knowledge The Science Breaker

The Science Breaker

What makes us different - chance in brain development and its consequences for individuality

How a type of expanding thread dictates plant growth 12 November 2020

14 January 2021 Until recently, scientists thought that the growth of plant cells is driven by pressure on their rigid cell walls. Using new nanoimaging technology we show that the cell wall polymer pectin can independently expand plant cells. Similar biochemical 'self-expansion' of extracellular polymers in different kingdoms may change our vision of life beyond the plasma membrane.

Why are we all different? By comparing brain anatomy we uncovered anatomical difference in the brain of individuals, resulting from chance processes during development. We show that these differences are linked to changes in behavioral responses. Therefore, next to nature and nurture, also chance shapes individuality. The Science Breaker

7000 years of the peopling of presentday France revealed by paleogenomics 23 December 2020 A large genomic study reveals ancient demographic events that accompanied the transition to agriculture and changes in metallurgic practices in France by analyzing 243 individuals from archaeological sites representing a 7,000-year time span, from the Mesolithic period (before the onset of agriculture) to the Iron Age. RAND Corporation

What Can DNA Exonerations Tell Us About Racial Differences in WrongfulConviction Rates? 11 December 2020 We show that data on DNA exonerations can be informative about racial differences in wrongful-conviction rates. The Science Breaker

Charting the immune landscape in brain cancers 27 November 2020 The brain is one of the most complex organs of the human body. For a long time, it was thought that the brain is hermetically sheltered from entry by invaders, including our body's white blood cells. The discovery that different brain cancers contain quite distinct landscapes of immune cells may help us better understand their development and devise novel and effective therapeutic strategies.

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The Cost of Precision Medicine Precision Medicine potentially offers a way to reduce costs, but challenges remain Although Precision Medicine, also referred to as Personalized Medicine, is unlikely to significantly reduce health care costs in the near future, there have been notable exceptions that provide a glimpse of its potential. The genomic characterization of certain cancers, for example, has led to improved molecular diagnostics and specific therapeutics that target unique tumour susceptibilities, illustrating a path forward to delivering more cost-effective, high-quality care. The increasingly routine use of genomic data, accurate clinical phenotyping (measuring the interaction between one’s genetic makeup and the environment), novel biomarkers of disease, and precise targetbased therapies all promise to transform the healthcare sector. That in turn should improve health outcomes, lead to a better understanding of disease risks, and eliminate the use of imprecise, expensive diagnostic procedures and ineffective therapies. Ultimately, these changes will likely decrease overall health care costs, and enhance value. However, we have yet to develop a reliable way to routinely integrate these technologies. While the capability and cost of generating high-quality DNA sequence information has improved exponentially, the annotation of genes, regulatory elements, DNA variants, and post-translational protein modifications lag behind. In addition, our understanding of the complex molecular pathways occurring within cells and organs, and their relationships to human development, ageing, disease, and environment remain rudimentary. Related insight areas: Biotechnology, Public Finance and Social Protection, Healthcare Delivery, Insurance, Future of Health and Healthcare, Values

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Latest knowledge The Science Breaker

Science

More than meets the eye: the histones revealed as enzymes

Engineering immune responses 27 November 2020

12 January 2021 Cytokines mediate various immune responses and have potential as drugs to treat cancer and other diseases. However, cytokines have diverse and competing roles; although some cytokine therapies are approved, they come with side effects and their efficacy can be limited. In a Perspective, Li and Lim discuss the synthetic biology approaches to engineering better cytokine-based drugs. They discuss improving on naturally occurring cytokines, engineering cytokine-signaling circuits for use with engineered cell therapies, and the possibility of designing cytokines that do not exist naturally. If efficacious, such approaches could improve the potency of cytokines as drugs and add to our understanding of cytokine-based communication. .

Histones have been known as proteins that package the DNA of eukaryotes and regulate gene expression. We discovered that histones also function as enzymes that convert copper ions into a usable form for cells. The enzymatic function changes how we think about the roles of histones in health and disease. It may have also been a critical driver for emergence of eukaryotes in the first place. The Science Breaker

The inanimate building-blocks for a living synthetic cell 22 December 2020 One of the most significant synthetic biology goals is the development of artificial lifelike structures that can reproduce themselves. One aspect of this is the self-replication of genomes that encode the blueprint of the whole system. We have now succeeded in reconstructing critical parts of this process in test tubes.

Ecole Polytechnique Fédérale de Lausanne

Organoids produce embryonic heart 11 November 2020 11.11.20 - Bioengineers at EPFL have used organoids – tiny lab-grown organs – to mimic the early development of the heart in the mouse embryo. The work is another step towards future bioartificial organs for research and transplants. There was a time when the idea of growing organs in the lab was the stuff of science fiction. Today, stem cell biology and tissue engineering are turning fiction into reality with the advent of organoids: tiny lab-grown tissues and organs that are anatomically correct and physiologically functional. The appeal of organoids is obvious. Essentially, they can provide us with an on-demand production of tissues and mini-organs for pharmaceutical and medical research, without constantly having to rely on donors. And although that goal might still be a long way off, we’re slowly getting closer.

Science Daily

Using CRISPR, new technique makes it easy to map genetic networks: Nucleotide barcodes attached to guide RNAs uniquely identify regulatory genes 10 December 2020 Scientists have developed an easy way to genetically profile a cell, including human cells, and rapidly determine all DNA sequences in the genome that regulate expression of a specific gene. This can help track down upstream genes that regulate disease genes, and potentially find new drug targets. The technique involves 'CRISPRing' the entire genome while giving each CRISPR guide RNA a unique barcode. Deep sequencing of pooled cells uniquely identifies control genes.

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Redefining Health and Disease Diseases are being reclassified, thanks to the integration of “omics” Nosology, the medicinal science that deals with the classification of disease, is embracing the technological revolution of omics: the fields that end in “-omics.” Genomics, for example, is emerging as a powerful tool that can be used in the classification of disease, and builds on previous technological advances that utilized anatomy and microbiology to define pathologic disease. Genomic information (about an individual’s genetic makeup) can enable us to categorize disease, understand pathology, and target treatment accordingly. Knowledge of each person’s unique DNA sequence is bound to further personalize healthcare and treatment decisions. With advances in genomic science, ailments that once seemed dissimilar are being joined together under a single focus. And, what were once thought to be uniform diseases are being differentiated. For example, we can now define cancer based on aberrant genomic signatures, rather than simply on the anatomical origin of a tumour. Another example: cystic fibrosis can result from more than 900 mutations in the CTFR gene, and a drug has been developed that is particularly effective at addressing a specific, cystic fibrosis-related mutation. Rapid and relatively inexpensive genome sequencing, along with bioinformatics tools, are driving the new Personalized Medicine paradigm. The challenge will be to efficiently incorporate this genomic information into routine healthcare. Related insight areas: Healthcare Delivery, Fourth Industrial Revolution, Future of Health and Healthcare, Global Health, Biotechnology, Public Finance and Social Protection

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Latest knowledge Nature

How COVID unlocked the power of RNA vaccines 12 January 2021 The technology could revolutionize efforts to immunize against HIV, malaria, influenza and more. The technology could revolutionize efforts to immunize against HIV, malaria, influenza and more. Wharton School of the University of Pennsylvania - Knowledge@Wharton

Should Your DNA Data Be Used to Sell Products? 21 December 2020 Data collected from genetic testing kits can help marketers customize products for consumers. But a new Wharton study raises red flags over ethics, privacy and the potential for misinformation. The Science Breaker

A contributing gene for cannabis dependence 08 December 2020 Individual variations in our genetic material contribute to more than we imagined and may combine with age and sex to influence how someone responds to drugs of abuse. Our results show that our genes might affect how much an individual likes marijuana due to underlying differences in reward regions of the brain. Frontiers

Editorial: Cancer Informatics Toward Precision Medicine 25 November 2020 This Research Topic focuses on cancer informatics and is intended to present and discuss innovative reports, methodologies, tools and algorithms that enable precision cancer medicine related to genomics, proteomics and metabolomics. Harvard Business School Working Knowledge

The Challenges of Commercializing Fertility 10 November 2020 Entrepreneur Christy Jones wants to create a venture to help women preserve their eggs and postpone motherhood. But what would an egg-freezing service sell—and to whom? Debora Spar discusses the challenges of commercializing fertility in a new case study.

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Preparing for Precision The healthcare workforce must be trained to deliver Personalized Medicine Better preparing the health care workforce to deal with the genomic information that makes Precision Medicine (or, "Personalized Medicine") possible is vital. A lot of accumulated genomic knowledge, or knowledge related to the genetic information included within a cell, will be embedded into pointof-care decision-analysis tools associated with electronic medical records. When genomic testing becomes routine, clinicians will not have to order a pharmacogenetic test and then wait for the results to arrive, in order to decide on a drug and dosage. Instead, a prescribing system will automatically search a database, find a patient's genomic results, and recommend the proper drug and dosage to use for a specific disease. Clinicians will not only need to know about disease, genomics, and pharmacogenetics - they will need to be able to explain to a patient why a certain treatment is being prescribed. Other competencies health care providers will need include an ability to recognize and order tests when there are indications that diagnosis and treatment would benefit from the use of genomic sequencing. Health providers will generally be expected to have an ability to explain fundamental genetic concepts, and to provide a referral to a genetic counsellor when necessary. Specific competencies must include knowledge about when to use sequencing data in order to improve differential diagnoses, formulate individualized disease management plans, and guide therapies according to pharmacogenetic data. Genomic information should be integrated into all levels of a health professional’s education, and his or her maintenance of certification. In addition, the current model of one health professional counselling a patient about a genetic test will be disrupted by advances in wholegenome sequencing technologies. That is because as the entire genome is sequenced, actionable genetic information beyond a specific test will become available. New methods to efficiently store and query this information in electronic medical records should be built, in order to provide point-of-service information to healthcare providers and patients. Related insight areas: Education and Skills, Workforce and Employment, Future of Health and Healthcare, Healthcare Delivery, Future of Computing, Biotechnology

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Latest knowledge Brookings

Nature Biotechnology

The new urgency of global tech governance

CRISPR RNA-guided integrases for high-efficiency, multiplexed bacterial genome engineering

07 January 2021

23 November 2020 Landry Signé, Mark Esposito, and Sanjeev Khagram underscore the urgent need for international rules and standards governing data to catch up with the accelerated diffusion of digital technologies during the COVID-19 pandemic.

Existing technologies for site-specific integration of kilobasesized DNA sequences in bacteria are limited by low efficiency, a reliance on recombination, the need for multiple vectors, and challenges in multiplexing. To address these shortcomings, we introduce a substantially improved version of our previously reported Tn7-like transposon from Vibrio cholerae, which uses a Type I-F CRISPR–Cas system for programmable, RNA-guided transposition. The optimized insertion of transposable elements by guide RNA–assisted targeting (INTEGRATE) system achieves highly accurate and marker-free DNA integration of up to 10 kilobases at ~100% efficiency in bacteria. Using multi-spacer CRISPR arrays, we achieved simultaneous multiplexed insertions in three genomic loci and facile, multi-loci deletions by combining orthogonal integrases and recombinases.

World Economic Forum

3 scenarios for how bioengineering could change our world in 10 years 21 December 2020 Edible vaccines, new approaches to treat disabilities and better carbon sequestration are among the promising innovations. But we also need to manage the risks. STAT

CRISPR treatment for blood diseases shows sustained benefit

The Science Breaker

How scientists light up their tobacco

05 December 2020

09 November 2020

Ten patients treated with a CRISPR-based gene-editing therapy for the inherited blood disorders sickle cell disease and beta-thalassemia have shown a consistent and sustained response with manageable side effects, according to interim results from two clinical trials reported Saturday. Vertex Pharmaceuticals and CRISPR Therapeutics are jointly developing the one-time gene-editing treatment called CTX001 . After being given the therapy by infusion, all patients in both studies have been free from symptoms of the diseases and have not needed blood transfusions.

We have genetically engineered tobacco plants capable of producing their own light, a phenomenon never described in any plants in nature. In addition to its aesthetic potential, this could lead to significant advances in techniques for imaging and studying physiological processes in plants.

21 Precision Medicine Briefing, January 2021


References 1. Avoiding Disparities

5. Data Into Action

The Trojan mosquito: an in-house parasite defends against malaria, The Science Breaker, thesciencebreaker.org Vaccine collaboration could overcome cold chain issues for RNA-based vaccines, Imperial College London, www.imperial.ac.uk 3 lessons from our immune systems on how to tackle COVID-19, World Economic Forum, www.weforum.org This brain protein may be key to treating Parkinson's – study in rats shows, The Conversation, theconversation.com The Blessing and Curse of Biotechnology: A Primer on Biosafety and Biosecurity, Carnegie Endowment for International Peace, carnegieendowment.org

Wellcome Sanger Institute and Wellcome Genome Campus Landscape Review, RAND Corporation, www.rand.org Long Live the Bio-Revolution, Project Syndicate, www.projectsyndicate.org Bacterial nanopores open the future of data storage, Ecole Polytechnique Fédérale de Lausanne, actu.epfl.ch Viruses Can Help Us as Well as Harm Us, Scientific American, www.scientificamerican.com Whole-Genome Synthesis Will Transform Cell Engineering, Scientific American, www.scientificamerican.com

6. A New Way to Probe DNA

2. Ethics and Legality

What makes us different - chance in brain development and its consequences for individuality, The Science Breaker, thesciencebreaker.org 7000 years of the peopling of present-day France revealed by paleogenomics, The Science Breaker, thesciencebreaker.org What Can DNA Exonerations Tell Us About Racial Differences in Wrongful-Conviction Rates?, RAND Corporation, www.rand.org Charting the immune landscape in brain cancers, The Science Breaker, thesciencebreaker.org How a type of expanding thread dictates plant growth, The Science Breaker, thesciencebreaker.org

Injury Scoring, RAND Corporation, www.rand.org Valuing gene therapies for orphan pediatric disease, VoxEU, voxeu.org Distress, Impairment, and Racial/Ethnic Differences in Perceived Need for Mental Health Treatment in a Nationally Representative Sample, RAND Corporation, www.rand.org Advancing gene editing with new CRISPR/Cas9 variant, Science Daily, www.sciencedaily.com Arthritis drug effective in treating sickest COVID-19 patients, Imperial College London, www.imperial.ac.uk Timely book tells the CRISPR story so far, Nature, www.nature.com

7. The Cost of Precision Medicine

3. Multi-omics Science

More than meets the eye: the histones revealed as enzymes, The Science Breaker, thesciencebreaker.org The inanimate building-blocks for a living synthetic cell, The Science Breaker, thesciencebreaker.org Using CRISPR, new technique makes it easy to map genetic networks: Nucleotide barcodes attached to guide RNAs uniquely identify regulatory genes, Science Daily, www.sciencedaily.com Engineering immune responses, Science, science.sciencemag.org

The Promise and Peril of the Bio-Revolution, Project Syndicate, www.project-syndicate.org Understanding how COVID-19 Patients shed viral particles into their environment, The Science Breaker, thesciencebreaker.org Promoting parental involvement in schools, VoxEU, voxeu.org How blockchain and genetic engineering could make food safer for people with allergies, Nature, www.nature.com Folding of SARS-CoV2 genome reveals drug targets -- and preparation for 'SARS-CoV3', Science Daily, www.sciencedaily.com 'Stealth' VC firm Aditum Bio launches new biotech startup - STAT, STAT, www.statnews.com

Organoids produce embryonic heart, Ecole Polytechnique Fédérale de Lausanne, actu.epfl.ch

Acknowledgements

4. A Precise Approach to Prevention

Cover and selected images throughout supplied by Reuters. Some URLs have been shortened for readability. Please follow the URL given to visit the source of the article. A full URL can be provided on request.

Big data can help doctors predict which COVID patients will become seriously ill, The Conversation, theconversation.com The lightning-fast quest for COVID vaccines — and what it means for other diseases, Nature, www.nature.com What makes certain groups more vulnerable to COVID-19?, McGill Reporter, reporter.mcgill.ca Take Racism Out of Medical Algorithms, Scientific American, www.scientificamerican.com Five serendipitous medical discoveries – starting with the Oxford vaccine dose, The Conversation, theconversation.com Crispr, not just for gene editing, Chemistry World, www.chemistryworld.com

22 Precision Medicine Briefing, January 2021


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23 Precision Medicine Briefing, January 2021


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Profile for Marco A. Gonzalez

Precision Medicine in Strategic Intelligence of WEF  

Co-curated with Washington University in St. Louis The ultimate goal of Precision Medicine, also referred to as Personalized Medicine, is t...

Precision Medicine in Strategic Intelligence of WEF  

Co-curated with Washington University in St. Louis The ultimate goal of Precision Medicine, also referred to as Personalized Medicine, is t...

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