GSNV Bits 'n' Pieces December 2022: Special Edition

Bits 'n' Pieces

December 2022

A special edition of Bits ' n ' Pieces covering highlights from the GSNV and the sector in 2022.

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A MESSAGE FROM MONICA FERRIE CEO

As we close out another year, another strange year at that, its easy to think that time has just rolled on by and question whether we have achieved all we set out to do. Whatever we have achieved is enough. 2022 began with the highest hopes that the pandemic was firmly in our rear vision and it was all going to be onward and upward. Fantastic if that is how it was for you but I’m not sure it was that way for most of us.We’ve finally learnt that we live with COVID and for some that means a more isolated life, a more anxious life, a permanent shift to masks, conscious and careful decision making about where we go and how – all the time. I think it’s ok to be still learning and working through how we are impacted, how we choose to be impacted and what we put in place to go about our lives in a capacity that brings as joy and happiness as well as safety and security.

I feel like GSNV has been caught in the COVID hangover too, Three steps forward and two steps back….we have delivered some outstanding work including our Genomics in Schools project and Diagnosis Day series in partnership with Melbourne Genomics. We have continued to build important collaborative relationships with our community, seeking to listening and learn from you and to support you however we can be of assistance. My team has been amazing this year.

Standing together has never been more important for the genetic, undiagnosed and rare disease community. So many stakeholders have reached out in 2022, wanting to engage with the community voice, some so well and others not so well. But we are learning together, what works and when, co-creating, co-designing and co-delivering. I

have never been so encouraged by our community and all our supporting stakeholders. 2023 is going to be a great year for us all. This issue of Bits and Pieces brings together much of our work and also your work for the year. We are looking forward to sharing our priorities for 2023 including our Equity in Practice project focussing on inclusion with and for our broad and diverse community. 2022 also brought its challenges for the GSNV team, we welcomed Isaac and Sammy and both have left us with major contributions and we have been so sad to see them go. But they go to new opportunities and with all our support and excitement for their futures. And so, as with 2022, we will begin 2023 with new team members bringing fresh insights and talents to challenge and stretch our contribution. Thank you to all in the community who have walked with us, we are privileged to count so many outstanding people and organisations as friends.

The GSNV office will close on the 16th December this year and reopen on the 16th January 2023. We will provide our Year in Review in January and our next newsletter will be out in February containing our 2023 workplan. As usual, we will host a Rare Disease Day event on Rare Disease Day, 28th February so watch out for the details. Finally, we all at the GSNV, wish you a peaceful and joyful Christmas and a New Year where you feel ready for the coming year, with all it will bring. Know that we are looking forward to sharing a year of advances, of positive change, of sharing and growing with you all.

Peace and Joy Monica

STAFFING UPDATES

On Friday the 2nd of December, GSNV said goodbye to taff member Isaac. Isaac joined GSNV in January 2022 s Project and Policy Assistant At GSNV, Isaac has ontributed to GSNV in leading the Diagnosis Day ideo series and the drafting organisational policies pertaining to paid participation in consumer ngagement, and equity and diversity. He has enjoyed being a consistent advocate for the consumer voice in policymaking and research.

Isaac is departing to Washington DC as a Research Assistant at the O’Neill Institute for National and Global Health Law. Isaac is excited to intersect his interests in health and government and contribute to research surrounding the effects of regulation and policy on health and wellbeing.

Arena recently joined the GSNV team as a project educator for the ‘Genomics in Schools’ initiative As a practicing teacher of science and health education at the upper primary and secondary school levels Arena has extensive experience in the design and delivery of contemporary curriculum initiatives including the writing and evaluation of innovative resources in line with curriculum guidelines Throughout hrt career in education, Se has also been involved in developing text book content, professional development programs for teachers and technology implementation.

With a passion for e-learning design and development and the incorporation of digital education principles and pedagogy that supports and enhances learning in a creative, engaging and interactive way and a Master of Genetic Counselling under her belt Arena comes as a great asset to the team

I very much look forward to working with the wider GSNV community throughout the development and creation of the program and delivering an outstanding product for implementation in schools next year.

Read more about Genomics in Schools on page 6

GSNV PROJECTS AND ACTIVITIES

Practical Wellness Month

Each year in October, GSNV hosts Practical Wellness Month. Practical Wellness Month started in 2020 as a means of uniting our community in a time of social isolation. Practical Wellness Month is a chance for GSNV to affirm its commitment to upskilling support group leaders to have agency in making their communities stronger, more connected, well governed, and help people attain the highest standard of health This year GSNV facilitated four online workshops that fostered the development of practical skills surrounding themes of ageing with a rare disease, compounding grief and loss, supporting siblings of someone with a rare condition, and peer support. Each workshop was led by external experts who are pioneers in their field. We extend our gratitude to Christine Walker (Chronic Illness Alliance), Melanie Schroder (Suicide Programs), Kate Strohm (Siblings Australia), and Sharon Terry (Genetic Alliance – USA) for sharing their expertise for the benefit of our community Almost 50 attendees participated in the Practical Wellness Month activities. Attendees included support group leaders, consumer advocates, genetic counsellors, carers, and people with a rare condition.

Groups Convened by GSNV in 2022

GUARD Collaborative Australia

Community Advisory Group

Ageing with a Rare Disease Working Group Newborn Screening Interest Group Mental Health Working Group Genomics in Schools Steering Committee

As you know we are committed to standing with and where appropriate, for our community by representing the community voice. We actively seek to understand and convey lived experience broadly and purposefully through consultations, facilitating groups and writing letters with and alongside our community.

find our events on eventbrite

GSNV engaged in cunsultations

RACGP - Stakeholder consultation on ‘Genomics in general practice’

Department of Health - Newborn Screening Program consultation

Department of Health – Patient Pathways Program consultation

Department of Health (VIC) – Health Information Exchange Privacy Framework consultation

WATCH EPISODES NOW

On the 17th of October, GSNV and Melbourne Genomics Health Alliance (MGHA) hosted a premiere event of the Diagnosis Day lived experience video series at Graduate House, University of Melbourne.

A seven-episode series that follows six amazing Victorian families through their diagnostic odyssey. The series features diagnoses of PKU, thalassemia, PittHopkins syndrome, Niemann Pick-Type C, and hyperoxaluria. What shines in this series is that lived experience is the absolute truth. Equitable access to a genetic diagnosis is vital in reducing the time that families spend navigating the ‘unknown’ and more time to live life at he highest standard of attainable health. We cannot achieve equitable access without

listening to and learning from the patient voice.

We are ineffably grateful to the families for opening their doors and hearts to share their stories. It was a highlight of this project having all the families together to watch the series in full for the first time. It was heartwarming and heart-rending.

Finally, it has been a pleasure working with MGHA to create a series that not only puts the patient at the centre, but spreads the word that genomics justifies time, resources, and expertise as its development can significantly improve patient health and wellbeing outcomes. This collaboration of consumer-industry is just the first step in collaborations that are necessary for tangible health reform.

GENOMICS IN SCHOOLS

Commencing in 2019 Genomics in Schools is by far the GSNV's biggest project to date. During 2020 the first stage of the project was launched to Victorian teachers and students studying Biology in Years 11 and 12, specifically targeting the topics within the VCE study design. Over 320 teachers across Victoria requested access to the free downloadable resources which created a reach of over 55,000 students! The resources are being used in both metro and rural schools with over one third of teachers using them within rural schools. The success of this program initiated an invitation from the Victorian Department of Education to contribute to a program of science challenges for Middle Year levels. This program, known as the Victorian Middle Years Science Challenge, is heralded by Museums Victoria and will be launched on the Scienceworks website in 2023 This year the GSNV created content for three challenges for Years 5-6, Years 7-8 and Year 9 These challenges have allowed us to continue educating students on the emerging technologies within genomics and begin a dialogue that empowers them as individuals to think differently about our population's diversity and the role genetics may play in this. Under the leadership of Ms Hollie Feller, the GSNV has continued to accelerate this project in 2022 with the successful application in the Australian Genomics Implementation Project grant. The grant will see the implementation of a national rollout of the work that has been accomplished under the two stages of the project across Years 5-12, with the development of one national science curriculum resource focused on the understanding of everyday health utility of genomics through lived experience storytelling

Curriculum Design:

The curriculum will deliver a balanced genomic education program to Australian upper primary and secondary school students. It will address the benefits and limitations of current and future genomic technologies, through a social and ethical lens, to allow for informed decision making and healthy debate It is also a pathway to tackling genomic skill shortages by stimulating an interest in genomics in Australia’s future workforce. The diversity of young people entering this exciting field will also be a critical success factor in interpreting and communicating complex information. With the support of the grant funding, the project has now engaged a part-time educator and curriculum writer to ensure the program delivers content that supports the science and health education curriculums in each State and Territory.

Stakeholder & collaborator Communication:

A Steering Committee has been guiding the outcomes of Genomics In Schools since inception. The group has recently expanded and now has members from GTAC, Melbourne Genomics, science teachers and members with lived experience. In 2023, a Genomics Industry Advisory Committee will be established to ensure we have the most up to date industry information relating to new technologies and have their involvement in the careers pathway components. We partnered with the Victorian Department of Education in our Middle School Science Challenges and will create connections with the remaining State/Territory Education Departments throughout 2023. We will seek collaborations with experts across multicultural and Indigenous resources.

Multicultural and Indigenous content:

Beginning the education process of genetic conditions at an early age will provide students and teachers with the confidence to incorporate ethical and social discussions surrounding health outcomes within their curriculum. Genomic medicine empowers individuals to think differently about difference and through this lens we can enable a deeper understanding of why difference exists in the community, leading to a more accepting and tolerant society. There will also be a strong focus on understanding social inclusion and embracing difference through storytelling and lived experiences, exploring the ethical and social challenges that are associated with genomic testing, and discovering a range of career and employment pathways in the fields of genetics and genomics. An indigenous and multicultural education expert will be engaged to support the language and content accommodations to ensure accessibility and relevance to these specific community groups

Online build and design of resources:

By mid 2023 the content of resources will be complete to upload onto an Learning Management System with its own URL and marketed for launch in January 2024. All modules will be predominantly interactive with a mixed modality approach ensuring a positive learning experience that is accessible to all students Australia wide, including First Nation educational communities.

Lived experience content:

With the assistance of the Steering Committee a number of genetic conditions have been chosen to highlight the lived experience of rare disease and will be dispersed throughout each module in video format. We hope to engage children from our community to share their experiences and ensure relevance to students using the resources This will also increase awareness on the conditions and facilitate acceptance of diversity in health outcomes for future generations.

Marketing and Launch:

The program will be completed in time for the 2024 school calendar year We will engage the Science Teachers Associations across Australia in our marketing efforts and will enroll a number of schools to trial the products before launch. The resources will be provided free of charge to teachers when launched and we hope that this will encourage a wide use.

ENGAGING HEALTHCARE PROFESSIONALS

Working with Paediatricians - Talking to Parents about Genomic Tests

We are pleased to have been part of education programs with Australian Genomics and Melbourne Genomics Health Alliances designed to support and upskill medical professionals who are engaged with genetic and genomic services.

Most recently, GSNV, together with SWAN Australia was part of an education seminar with Melbourne Genomics delivered to Victorian Paediatricians, focused specifically on the ‘confidence’ of practitioners to brooch and discuss testing, and support the sector to engage patients and support them while undergoing genomic testing. We provided information on support structures and options and reiterated the importance of referrals to support/advocacy services.

Topics of discussion with Paediatricians focused around communication and explored issues including consent and communication, timing, wait times, linking to support and diverse needs.

It is a priority of the GSNV to engage with clinical services and health professionals, in order to provide support an increased understanding of the needs of families/patients at critical intersections in their diagnostic journey. We look forward to continuing and building on these important and valued relationships in the future.

rare care centre

The Rare Care Centre was established this year in Perth, with the assistance of philanthropists. The Centre focuses on improved awareness and early identification of children with potential rare diseases and enhanced referrals to support earlier and more accurate diagnosis. It provides Western Australian families with improved support and care coordination; and better access to community resources, clinical trials and research. The Centre also focuses on Aboriginal health and mental health, connecting the child and their families with a wider range of services, such as education and disability services This model will also establish an education centre, global partnerships, research collaborations, support programs and advocacy for rare and undiagnosed diseases

The Rare Care Centre needs to know about patient support organisations that are located outside Western Australia to make sure that families and individuals can connect to other families and supports that are available through patient support networks and organisations. You can email pch.rarecarecentre@health.wa.gov.au to ensure they are aware of your organisation and also to share support information that can be made available to families.

Asia Pacific Alliance of Rare Disease Organisations (APARDO)

In 2022, APARDO has partnered with Rare Cancers Australia and participated in two capacity building events in Singapore for Patient Support Group leaders in rare cancer and rare disease across the Asia Pacific. They have delivered webinars and conference presentations covering universal health coverage, mental health and inclusion, gene therapies and genomic technologies.

In November APARDO also convened a face to face conference in Bangkok, bringing together patient support organisations, health professionals, industry and Government from across the region

Monica Ferrie has acted as Treasurer for APARDO over the past year:

Collaborative Global Network 4 Rare Disease (CGN4RD)

The Western Pacific region expert panel continued to meet and progress the CGN4RD project This is a collaboration between Rare Disease International and the World Health Organisation. The GSNV is one of the organisations representing Australia as part of the Expert Panel.

In 2022, the project focus shifted from conceptually working through the strategy to implement rare disease centres of excellence across the world and exploring criteria for ‘proof of concept’ sites where the concept can become a reality and prove its value and viability 2023 should see this project progress in our region as sites are established and evaluated.

The 2023 work plan will be released early next year and it will be another exciting year as the alliance are committed to leaving no-one in the Asia Pacific behind.

"It has been so valuable to learn from colleagues across the Asia Pacific and to share the activities and focus for our community here in Australia. The Asia Pacific region is so diverse and yet so willing to collaborate and share"

InGeNA has continued to grow and evolve throughout our second year. Our 2022 has been about deepening connections with our stakeholders, building our reputation, and earning trust across the genomics landscape in Australia. This culminated in our Precision Health Roundtable held in Canberra in October. This event brought together genomics industry researchers, planners and policy makers, clinicians and consumer representatives to discuss the advancement of precision health in Australia by 2030. InGeNA members and stakeholders joined in to share their experiences and contribute to the important conversations around building public and consumer trust and awareness, workforce needs, the complexities of governance, data quality, privacy and some major goals for national infrastructure including clinical implementation. Work on a report detailing the outcomes of this meeting is currently underway and will form the basis of a roadmap for InGeNA’s work in collaboration with other parties to guide the transition to a learning health system leveraging on precision health.

InGeNA has also used this year to act as a trusted voice representing industry for our partners and stakeholders, allowing the genomics industry to give our valuable input into projects including the HTA Review being conducted by Medicines Australia and the Federal Government, Standards Australia’s Committee IT-014-19 for ISO standard ISO/TC215/SC1 - Genomics Informatics, and the NAGIM implementation plan and other projects by Australian Genomics. We have collaborated closely with Medicines Australia, Australian Genomics, Pathology Technology Australia, and the Human Genetics Society of Australasia, and we have contributed to multiple requests for comment from MSAC. Our publications (including two document launches in 2022) have been widely downloaded this year as we continue to leverage these studies to promote precision health in Australia. InGeNA is looking forward to a productive and effective 2023 as we look to grow our membership further and continue to play our role and make our voice heard.

Carla Carroll, InGeNa Program Manager

collaboration on newborn screening advocacy

The last 18 months has been a marathon in the advocacy space for Newborn Screening (NBS) for Spinal Muscular Atrophy (SMA). After the positive recommendation from the Federal government in 2020, the hard work began to successfully advocate to each state for the permanent implementation for NBS for SMA. I reached out to the GSNV to assist me in this advocacy, as I knew there was a bigger picture at play and that if we did this correctly then other organisations in the future wouldn’t perhaps have such a long drawn out process. Monica and I joined a working group with Novartis and Parker and Partners and had weekly meetings with relevant stakeholders to target those in each state that needed to be across this important issue. We met with countless Ministers and ministerial officers and Department of Health representatives, to state the case for SMA and to identify and overcome any barriers for the implementation of the program. It's been a huge task, and finally we will see the implementation of newborn screening in each state starting from May 2023. Hopefully the work that we have done in this space pioneers the way for other patient organisation groups to have a much easier road than we did, and that lives are saved by the early implementation of newborn screening programs in the future. Thank you to the GSNV for their support and I hope you all have a safe and Merry Christmas.

Julie Cini, Advocacy Beyond Borders

RESEARCH INVOLVEMENT

The GSNV has greatly increased our presence in research projects in 2022. We are thrilled to be involved in a number of projects and research development workshops:

COVID19 Journals

We completed this project early in 2022 with thanks to all our contributors and Stephanie Best, our research implementation scientist with Australian Genomics. Since completion this project has been presented at the Human Genetics Society of Australasia, forums at the Murdoch Children's Research Institute and in various other forums and we hope to continue this in 2023 as we share the impact of the COVID19 pandemic on our community.

Exploring the Expectations of People Accessing Genetic

Counselling

This Master of Genetic Counselling project has been developed to explore the expectations people have of genetic counselling prior to accessing the service and how these expectations are met in accessing genetic counselling. It will also explore the perspectives of genetic counsellors on the expressed expectations of those accessing their service.

The project will be completed next year

Melbourne Disability Institute (MDI) grant

This year GSNV received funding through MDI to investigate support group governance and community structures though engaging support groups who utilise online platforms to support their community. The study aims to develop a best-practice governance scale to assist us in supporting support group leaders to improve their leadership and community operation Our lead investigator for this project is a member of the rare disease community with social media background.

The Involvement of Rare Disease Organisations in Research Projects

This Masters of Genetic Counselling project focusses on understanding the experiences of patient support organisations (PSO) to inform future collaborations between researchers and patients, and lead to better outcomes for both parties. The study seeks to address questions around how PSOs experience involvement in research projects, the potential enablers and barriers impacting their involvement and whether support during the process is required The project will be completed in 2023.

Family Engagement in Research

Researchers and parents of children attending RCH, including our own Hollie Feller, came together to engage in a course focusing on family engagement in research. It was a collaboration between KBHN, CanChild and McMaster University This 10 week course sought to develop an understanding of the importance of involving families in research teams and how to implement this with a balance of power and partnership, which research suggests improves the quality and relevance of research. Covering communication strategies, roles and responsibilities of families and researchers in research, ethics in family engagement and much more. As this field is continuing to grow this course has upskilled GSNV and others within the MCRI campus to lead the way with family engagement in research projects.

medical research future fund (MRFF) projects

EpiGNs

GSNV are delighted to be represented on the investigation team for this important project led by Dr David Godler from Murdoch Children's Research Institute that aims to impact newborn screening pathways. The project has been fortunate to receive MRFF funding and will focus on a developed workflow called Epi-Genomic Newborn screening (EpiGNs). EpiGNs screens for treatable conditions associated with intellectual disability, autism, life threatening obesity and seizures including: Fragile X, Prader Willi (PWS), Angelman (AS), Dup15q, Turner (TS), XXY, XXXY and XXYY syndromes. A significant part of our role in the research is to convene the Consumer Advisory Group the members of which will be engaged from the patient support groups involved in the research to ensure co-design at all stages of the project. We will also provide a consistent voice into the research and future focus responsibility.

Ethical governance for clinical and genomic data

As we know, the use and application of data is imperative for our community in a resposnible and ethical way. We are delighted to join our colleagues at SWAN Australia and Genetic Alliance Australia as investigators for this project which will generate new knowledge to enable more effective implementation and use of clinical and genomic datasets. The research will explore emerging ethical, legal and social issues to determine how such datasets should be governed. This research will also address how such governance can both promote the development and use of clinical and genomic datasets while also ensuring and maintaining trust from diverse stakeholder groups This project will commence in 2023

Rare on Air, a new EURORDIS podcast will explore the experiences, challenges, and successes of people living with a rare disease. We will meet with people who live with a rare disease, those who advocate for them, and a wide range of policy experts The first episode features an interview with Yann Le Cam, EURORDIS CEO to explore the journey that European Reference Networks (ERNs) have been on since their launch in 2017. Listen on Spotify, Apple Podcasts or Google Podcasts

GSNV DIVERSITY STATEMENT

The Genetic Support Network of Victoria is making a commitment to diversity and inclusion. This commitment will underpin how we work with and advocate for the genetic, undiagnosed and rare disease community. This commitment will be materialised in the form of a strategy that informs how we design, develop and implement public health activities.

Access to healthcare is a human right. Along the entire healthcare cascade, from diagnostics to continuity of care, this right is abrogated for some subsets of the GUaRD sector.. There are a myriad of gaps in our healthcare system whereby people unjustly bear health and wellbeing burdens.

Our genetic, undiagnosed and rare disease communities include:

●Aboriginal and Torres Strait Islander people

●Culturally and Linguistically Diverse (CALD) people

●People living regionally, rurally, and remotely

●Lesbian, Gay, Bisexual, Trans and Gender Diverse, Intersex and Queer (LGBTIQ+) people

We are at a critical juncture in time whereby the consumer voice must be amplified to guide the rapid developments of industry. At GSNV, we are making a commitment to ensuring that all people have safe access to health and wellbeing, and the benefits of the growing influence of industry. We believe that integrating meaningful inclusion strategies into our organisational DNA is the first step in encouraging a more collaborative and diverse healthcare sector that accurately reflects the needs of the people it is designed to serve.

In developing our Diversity and Inclusion Strategy, we will learn from the community. We aspire to look beyond the gaps in access and health outcomes and determine how we can remedy them. Then, we will support similar organisations, patient support groups, industry, and government to make their practices more collaborative, more inclusive, and more effective.

Please contact GSNV at info@gsnv.org if you would like to speak to us about our work in this sector or if you have information that could guide us.

MARGARET SAHHAR SMALL GRANTS CLOSING SOON

The GSNV Margaret Sahhar Grant has been established to assist one support group each year with a $1,800 boost to assist their communities by delivering on a pressing need or deliver an innovative and new project that focuses on education, advocacy or support to benefit people in our community with genetic, undiagnosed or rare conditions.

Applications for the 2023 round close this week! If you are a support group leader or representative follow the links to the left to find out more about this great opportunity for funding.

The 2022 Margaret Sahhar Small Grant was awarded to Syndromes Without A Name (SWAN) Australia to develop a comprehensive Advocacy Tool Kit designed to help SWAN parents and carers advocate for their children. It focuses on advocacy in the following settings: healthcare, social services and supports (including the NDIS) and education.

VOLUNTEER SPOTLIGHT

With our active volunteer program this year we have supplied support groups with volunteers to deliver projects and events throughout the year on both a regular basis or as needed Our volunteers come with the wealth of experience and a diverse range of skills and are available to all genetic, undiagnosed and rare disease groups who engage with Victorians to support them deliver the best programs and services to meet their community's needs.

All our volunteers have completed working with children checks and require a clean national police record check before they are trained and ready to assist in the community.

Many of our volunteers have a connection with rare diseases or have trained in health and science and are looking to study and work with people and communities impacted by these conditions.

Emily joined us from the US to complete a 12 week internship. During this time she provided support to several of our key projects for the year. Emily gathered background information on international newborn screening programs and how Australia can make amendments to the current program so that all babies have a chance at their best quality of life to support a Federal submission due soon.

As a key contact for Rare Diseases New Zealand Emily has and will continue to support the development of an informative document outlining those medicines available in Australia and world-wide that are subsidised allowing for equitable acess.

Emily also assisted Isaac develop our equity and diversity policy statement (see page 16) Emily recently returned to the US for what she hopes is a brief holiday before returning to study medicine in Australia. We wish her every success.

Sarah joined us to complete a Science and Technology Internship as part of her University of Melbourne science degree.

AGUIDETOTHENDIS

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I had the privilege to work on updating the NDIS resource manual for the GSNV website. I’ve learnt a lot with GSNV and am super grateful for the opportunities I’ve had during this semester!" This document is the one stop guide to the NDIS and aims to collate all the information currently available into one easy to read document.

GET INVOLVED

shout us to shout out

We have to be responsive to a fast changing complex environment where the lived experience voice is required to assert the needs and expectations of the community we serve. We acknowledge the gap in existing support for many rare, undiagnosed and genetic conditions and continue to work to bridge this gap through education, advocacy and support.

By choosing to make a donation to the GSNV, you will be supporting people living with genetic, undiagnosed and rare conditions and those who support them, including families and support groups, working with health professionals, social service supports, and the broader community to deliver outcomes where people can flourish and live their best lives.