RVA Education: Genomics and Newborn Bloodspot Screening Research

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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. 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


  • 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


  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. International Rare Disease Research Consortium. Available from: https://irdirc.org/about-us/vision-goals/