Clinical Genomics Lab

Cardiovascular diseases affecting children and young people often have underlying genetic causes. Severe outcomes can include the development of heart failure and sudden cardiac death (SCD). Hypertrophic cardiomyopathy (HCM) is the most prevalent, affecting at least 1/500 of the general population. Gaps in our knowledge about the underlying genetic architecture of cardiovascular diseases have limited our capacity to diagnose, predict risk and effectively manage families. Despite three decades of research, genetic testing currently identifies a causative variant in only ~40% of affected families and cannot predict those who will develop severe outcomes. The Clinical Genomics Laboratory aims to find ways to use genomics and genetic counselling to equitably improve care, clarify diagnosis, refine risk information for families with genetic cardiovascular diseases, and implement these findings into healthcare.

We lead large clinical recruitment studies, including: 

• NHMRC-funded NSW Hearts Inherited Cardiomyopathy Cohort Study (www.nswhearts.org.au)

• MRFF-funded Elusive Hearts Study

• NSW Sudden Cardiac Arrest Registry

Some of our work centres around patient support and genetic counselling. We have developed an online support intervention for families affected by the sudden cardiac death of a young relative, which includes a website (www.copescd.org.au) and a series of four online support sessions.

To learn more about any of our studies or to discuss your eligibility, please contact our research genetic counsellors at clinicalgenomics@garvan.org.au or (02) 9359 8049.