Introduction
Newborn bloodspot screening (NBS) is of critical importance to the rare disease community as it screens for rare pre-symptomatic conditions to enable early intervention. Australian states and territories have offered NBS since the 1960s, with more than 99% of babies screened in Australia each year,1 reflecting a high level of public trust in this important program. Genomic NBS has the potential to screen for many more rare conditions2 but genomic testing in the newborn stage is associated with ethical, legal and social complexities that need to be carefully considered and managed.3 The research programs presented in this course are designed to collect evidence on how new technologies can be used to expand NBS programs in rigorous and considered ways to safeguard public trust and ensure all Australian babies benefit from scientific innovations.
The National Strategic Action Plan for Rare Diseases highlights the importance of screening programs for the rare disease community, including ensuring screening programs can evolve with emerging science and technology.
Priority 2.2: Ensure diagnosis of a rare disease is timely and accurate
Action 2.2.1: Ensure all Australians have equitable access to a range of diagnostic tools and tests, providing the best chance of early and accurate diagnosis.
2.2.1.2. Ensure all existing screening and testing programs are sustainable and evolve in line with innovation over time.4
In 2022, the Medical Research Future Fund Genomics Health Futures Mission (MRFF-GHFM) announced several grants for genomics newborn screening research (Streams 2 and 3), with two objectives:
- “Enabling effective diagnosis in newborns of diseases caused by genetic mutations to support development of earlier and more effective interventions and treatments.”5
- “Conduct research addressing emerging ethical, legal and social issues associated with the governance of clinical and genomic datasets.”5
Additionally, research into improved diagnostic methods, including genomics, and the development and testing of new health technologies are key areas of need according to the International Rare Diseases Consortium Goals for 2017–2027.6
In this course, recipients of these MRFF-GHFM grants provide an overview of their research.
This course is ideal for:
- Members of the rare disease community interested in the role of genomics in the future screening of newborns in Australia.
- Those interested in different types of approaches to implementing genomics in NBS, including how different approaches may address complexities associated with genomic NBS.
- Those seeking a deeper understanding of the ethical, legal and social issues associated with genomics, genomic screening and genomic data collection
Agenda:
- The LINEAGE Project: Legal, Ethical and Social Issues in Genomic Data Governance – Prof Ainsley Newson PhD, Professor of Bioethics, Sydney Health Ethics
- NewbornsInSA: Newborn Screening Using Integrated Multi-omics in South Australia – A/Prof Karin Kassahn PhD, SA Pathology
- EpiGNs: A New Model for Genomic Newborn Screening Assessed at Population Scale in Victorian Infants – A/Prof David Godler PhD, Murdoch Children’s Research Institute
- Newborn GEN SEQ Trial: Newborn GENomic SEQuencing in Screening: Therapy Ready and Information for Life – Prof Bruce Bennetts PhD, Children’s Hospital at Westmead
- Genomic Newborn Screening for Personalised Lifelong Healthcare in Australian Babies – A/Prof Sebastian Lunke PhD, Head of Division of Genetics and Genomics, Victorian Clinical Genetics Service
- gEnomics4newborns: Integrating Ethics and Equity with Effectiveness and Economics for Newborn Screening – A/Prof Sarah Norris PhD, University of Sydney
- GenSCAN: The Genomic Screening Consortium for Australian Newborns – A/Prof Michael Gabbett, Queensland University of Technology
References
- Australian Government Department of Health and Aged Care. About Newborn Bloodspot Screening. [Internet]. 2022. [updated 20 October 2022] Available from: https://www.health.gov.au/our-work/newborn-bloodspot-screening/about-newborn-bloodspot-screening
- Downie L, Halliday J, Lewis S, Amor DJ. Principles of Genomic Newborn Screening Programs: A Systematic Review. JAMA Netw. [Internet]. 2021;4(7):e2114336. Available from: https://doi.org/10.1001/jamanetworkopen.2021.14336
- Levy HL. Ethical and Psychosocial Implications of Genomic Newborn Screening. International Journal of Neonatal Screening. 2021; 7(1):2. https://doi.org/10.3390/ijns7010002
- Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. 2020. 63 p. Available from: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases
- Australian Government National Health and Medical Research Council. MRFF – 2021 Genomics Health Futures Mission Grant Opportunity. [Internet]. 2021. Available from: https://www.nhmrc.gov.au/funding/find-funding/mrff-2021-genomics-health-futures-mission-grant-opportunity
- International Rare Disease Research Consortium. Available from: https://irdirc.org/about-us/vision-goals/
Introduction
RVA is leading the collaborative development of the Rare Awareness Rare Education (RARE) Portal for rare diseases. RVA is the national peak body for Australians living with a rare disease, advocating for the best outcomes for Australians living with a rare disease. One of RVA’s key strengths is our person-centred focus that sees us working with all key stakeholders, including governments, key peak bodies, researchers, clinicians and industry. This multi-stakeholder approach extends to the collaborative development of the RARE Portal, ensuring a robust and extensive consultation process remains central to its ongoing development.
The RARE Portal is one of the key deliverables of the Australian Government’s National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.
The purpose of the RARE Portal sneak peek
The RARE Portal sneak peek is designed to provide all stakeholders in the rare disease sector with an update on the site’s development and the opportunity to provide input.
After completing this course, you will:
- Have a better understanding of what the RARE Portal is and the multi-stakeholder consultation process RVA has undertaken to date
- See the progress made on building and populating the site
- Have the opportunity to provide feedback via a form
Introduction
Ahead of the Federal Election, Rare Voices Australia (RVA) was excited to welcome the Australian Labor Party’s (ALP) commitment, if elected, to invest in consistent and equitable newborn bloodspot screening (NBS). The ALP forming a majority government presents the rare disease sector with a timely opportunity to revisit the challenges and gaps with NBS that RVA has been raising with Commonwealth and state governments over the last two years.
RVA hosted a virtual NBS forum on Thursday, 16 June 2022. The forum brought together RVA Partners, NBS clinical and research experts, NBS policy experts and industry to discuss the importance of a consistent and equitable program, the role of national leadership, how the NBS program is changing and what these changes mean for the rare disease sector. Other topics included how Australia’s NBS program compares to international programs, emerging research in the NBS space, the role of genomics and the link between NBS, care and policy.
Speakers:
- Hon Ged Kearney MP, Assistant Minister for Health and Aged Care, Australian Labor Party
- Dr Mike Freelander MP, Member for Macarthur, Australian Labor Party
- Tiffany Boughtwood, Managing Director, Australian Genomics
- Dr Kevin Carpenter, Chief Executive Officer (CEO), Human Genetics Society of Australasia (HGSA)
- A/Prof Michelle Farrar, School of Women’s and Children’s Health, University of New South Wales; Paediatric Neurologist, Sydney Children’s Hospital Randwick
- Louise Healy, Education and Advocacy Manager, RVA
- A/Prof Sebastian Lunke, Clinical Scientist, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute
- Nicole Millis, CEO, RVA
- Prof Ainsley Newson, Professor of Bioethics, University of Sydney
- Dr Dianne Webster, Vice President, International Society for Neonatal Screening
This forum is ideal for:
- People living with a rare disease who are interested in better understanding NBS and the current policy frameworks
- Rare disease group leaders whose community has an interest in NBS
- Clinicians, researchers, industry and government representatives looking for multi-stakeholder perspectives regarding NBS
Introduction
During these uncertain and challenging times due to COVID-19, effective advocacy is more important than ever. With so many competing issues and voices, it’s essential that the rare disease community make their voices heard.
With this in mind, Rare Voices Australia (RVA) has developed this online learning resource to assist you in amplifying your rare disease advocacy using the National Strategic Action Plan for Rare Diseases (the Action Plan).
The Action Plan was launched in February 2020 by the Minister for Health and Aged Care with bipartisan support. The Action Plan was developed ‘by the rare disease sector, for the rare disease sector’ and is a powerful tool that you can use to amplify your advocacy.
This learning resource provides information, case studies and examples to highlight the power of the Action Plan in advocacy.
Once you’ve completed the course, you will:
- Understand the context and background to the development of the Action Plan.
- Recognise the key features of the Action Plan that amplify advocacy.
- Be able to use the Action Plan to amplify your advocacy.
The content is self-paced so complete the modules when it best suits you. You can test your understanding throughout and upon completion of the course, you will receive a certificate.
You will need to complete Module 1 before moving onto Module 2. After reading and watching all of the content, you’ll be asked to test your knowledge in a short quiz.
Please note: this course is available to RVA Partners only. Click here for more information about becoming an RVA Partner.
Introduction
Illuminating landmarks can be a powerful way to mark awareness days such as Rare Disease Day. Illumination activities showcase a united front and shine a light on rare diseases as a collective (Rare Disease Day) or for a specific rare disease. Additionally, illuminations help to raise awareness and may result in people and families living with a rare disease feeling seen and heard.
The more local and national buildings and monuments that are illuminated, the stronger the impact!
Once you have completed this course, you will:
- Understand the basics of illuminating landmarks.
- Be aware of the key factors to consider when reaching out to potential landmark contacts.
- Know how to maximise the impact of illuminations organised.
The content is self-paced so complete the modules when it best suits you. You can test your understanding throughout and upon completion of the course, you will receive a certificate.
Rare Voices Australia (RVA) thanks RVA Partner, Fragile X Association of Australia, and rare disease advocate, Andrew Bannister, for working with RVA to develop this resource and for sharing their learnings and tips so generously with the rare disease community.
Please note: this course is available to RVA Partners only. Click here for more information about becoming an RVA Partner.
Introduction
People living with a rare disease face unique challenges. The complexity and unmet need can be overwhelming for people living with a rare disease, policymakers, clinicians, researchers and industry. Due to limited data and high levels of uncertainty, people are often faced with difficult decisions, incomplete knowledge and unclear pathways.
After completing this course, you will better understand Australia’s rare disease landscape and policy environment.
This course is ideal for:
- People living with a rare disease who are interested in understanding the current policy frameworks that impact Australians living with a rare disease
- Anyone with an interest in the Australian rare disease landscape and policy
- Those wanting to participate in consumer consultation or co-design across a range of rare disease awareness and education projects
Course content:
Module 1: Introduction to the rare disease sector
Module 2: Overview of Rare Voices Australia
Module 3: The National Strategic Action Plan for Rare Diseases
Module 4: Rare diseases and the Australian healthcare system
Course content is self-paced, so complete the modules in your own time.
You will need to complete Module 1 before moving on to Module 2. After making your way through the content, you’ll be asked to test your knowledge in a short quiz. Once you have successfully completed each quiz, you will receive a certificate that acknowledges your completion of this course.