Clinical Genomics Laboratory
Using 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.
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 email@example.com or (02) 9359 8049.
- 2023Heart, lung & circulation10.1016/j.hlc.2023.06.573
The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study.
- 2023European heart journal10.1093/eurheartj/ehad365
The moral and practical urgency of increasing diversity in genomics.
- 2022Circulation. Genomic and precision medicine10.1161/CIRCGEN.121.003672
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin () Truncating Variant.