RVA Education: The Changing Face of Newborn Bloodspot Screening – A Rare Disease Sector Forum

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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.


  • 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