Human Genetics Society of Australasia 48th Annual Scientific Meeting: Rare Voices Australia Recap

Between 14–18 August 2025, Rare Voices Australia (RVA) attended the 48th Annual Scientific Meeting of the Human Genetics Society of Australasia (HGSA) in Sydney. Genetic Ecosystems was this year’s theme.

RVA congratulates the HGSA leadership team and local organising committee for delivering a person-centred meeting, which opened with and continually highlighted the powerful voices of those with lived experience of rare disease.

We especially acknowledge the courage of our RVA Partners—Giovi Moschoudis, Founder and Chief Executive Officer of the Angelina Cask Neurological Research Foundation, and Mel Anderson, Director and Chair of Research Governance at PURA Foundation Australia—who shared deeply moving personal stories about the realities of living with a rare disease.

It was a privilege to witness Dr (Elizabeth) Emma Palmer, a member of RVA’s Scientific and Medical Advisory Committee (SMAC), deliver the 20th Sutherland Lecture, reflecting on her impressive career and impact. We congratulate Emma on this well-deserved honour and thank her for her ongoing work supporting Australians living with a rare disease. RVA also congratulates SMAC members Dr Paul Lacaze, who presented on DNA Screen, and Dr Jane Tiller, who shared updates on efforts to legislate a ban on genetic discrimination in life insurance underwriting.

The HGSA Annual Scientific Meeting and Special Interest Group sessions brought together high-calibre speakers from Australia, New Zealand, the United States and Asia. Key themes included:

• The rapidly evolving landscape of newborn screening, with equity, trust and consistency as central priorities.
• The expanding role of genomics in newborn screening and health, and the opportunities and challenges this presents.
• The need to understand and address the diverse perspectives and needs of patients, families and communities.
• The ethical, legal and social dimensions of integrating genomics into health systems.
• The demonstrated value of undiagnosed disease programs for Australians.
• The importance of carefully crafted policies to support safe and equitable implementation of genomics.
• The emerging role of artificial intelligence in genomics and health.

The HGSA Annual Scientific Meeting highlighted both the extraordinary progress being made in genetics and genomics, and the importance of ensuring these advances are translated into care that is equitable, ethical and informed by lived experience.