PO36 Establishment of a genetic counsellor led clinic in the heart transplant service at Alfred Health

Abstract The Alfred Hospital is the main referral centre for patients with advanced heart failure in Victoria and Tasmania, Australia. It provides care for those requiring or who have had a heart transplant and/or a left ventricular assisted device (LVAD). Approximately 40% of individuals with advanced heart failure due to non-ischaemic cardiomyopathy (NICM) have a pathogenic/likely pathogenic variant in a known inherited cardiomyopathy gene1. Genetic testing can provide diagnostic clarity, improve familial screening and aid in family planning. In 2022, an onsite genetics service was established at the Alfred Hospital. This enabled clinicians to easily refer patients for genetic testing and/or counselling within the one health service. A review of referrals to the Clinical Genetics service indicated a low rate of referrals for patients with an LVAD or post-heart transplant. This prompted a retrospective audit of all heart transplant patients under the age of 60 and those with an LVAD to determine if there was documented evidence of referral to genetics. Methods: We identified demographic data, clinical phenotype, family history and previous genetic testing outcomes for living patients being followed up in the LVAD and heart transplant clinics. A joint initiative was formed between the Clinical Genetics and Heart Transplant teams to increase the rates of referral for genetic testing and/or genetic counselling. Three strategies were identified to help improve the rates of genetic testing in this cohort: identification of patients eligible for referral to genetics, development of resources to facilitate clinicians discussing referrals with eligible patients and establishment of a heart transplant-specific genetic counsellor led clinic to streamline the process and reduce appointment burden. Results: In August 2025, 34 patients were being actively followed up for an LVAD and 246 post-transplant patients were under the age of 60. Of these, 62% (n=154) had an initial diagnosis of NICM. A referral to Clinical Genetics had already been made for 23% (n=35) and 69% (n=106) were recommended to be referred to genetics either due to having no record of genetic testing (n=83) or having previous genetic testing and requiring an updated assessment (n=23). Of the patients already referred to Clinical Genetics, 20 have completed genetic testing. A likely pathogenic or pathogenic variant was identified in 65% (n=13) and 15% (n=3) had a variant of uncertain significance identified. Further outcomes of genetic testing data will be presented. Conclusion: The establishment of an onsite genetics service identified low referrals rates of patients in cohorts likely to carry an inherited cardiomyopathy condition. A joint initiative between genetics and cardiology is increasing access of genetic testing for people with advanced heart failure.