Preventing the preventable - the role of a universal child and family genomic FH screening program

Preventing the preventable - the role of a universal child and family genomic FH screening program

Coronary heart disease remains a major cause of morbidity and mortality in Australia, with familial hypercholesterolaemia (FH) as a key—and largely preventable—driver. Affecting 1 in 250 Australians, FH is a dominantly inherited disorder that increases the risk of early‑onset coronary artery disease by 20‑fold. Without treatment, 50% of men and 20% of women with FH will experience a fatal or non‑fatal heart attack by age 50. Yet 90% of adults and 98% of children with FH in Australia remain undiagnosed.

This webinar outlines the case for a universal, equitable genomic screening program for Australian children and families, enabling early detection and preventative care pathways for those at highest cardiovascular risk. The scientific and economic evidence is strong, and the necessary genomic and digital tools already exist; what is needed is coordinated national implementation.

Although centred on the Australian landscape, the insights and models discussed are highly relevant across the Asia Pacific region, where similar diagnostic gaps, rising cardiovascular disease burden, and expanding genomic capabilities present shared opportunities for earlier intervention and improved long‑term outcomes.

Speakers:

Shubha Srinivasan  Co-Head of Department, Senior Staff Specialist, Institute of Endocrinology and Diabetes, ​ The Children's Hospital at Westmead.​ Clinical Associate Professor Shubha Srinivasan is a Senior Staff Specialist in Paediatric Endocrinology, Co-Director of The Institute of Endocrinology and Diabetes at The Children's Hospital at Westmead, and Clinical Associate Professor at The University of Sydney. A recognised leader in familial hypercholesterolaemia (FH), Shubha established the Sydney Children's Hospitals Network's dedicated multidisciplinary paediatric lipid clinic and is a passionate advocate for earlier identification and lifelong care of individuals and families affected by FH. Shubha serves on the Australian National FH Registry Board, co-chairs the Australia-New Zealand Paediatric FH Working Group, and is a member of the Professional Advisory Body for FH Australia. Shubha co-authored the recent Australian guidance on the management of paediatric FH and is actively involved in initiatives focused on FH awareness, screening, and the use of health technology to support clinical care.