Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.

摘要: Abstract Background This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct first nation-wide audit in Australia establish current practices across cardiac genetics clinics. Method An records patients with a suspected genetic heart disease (cardiomyopathy, primary arrhythmia, autosomal dominant congenital disease) who had consultation between 1st January 2016 and 31 July 2018 were offered diagnostic test. Results included 536 at multidisciplinary clinics from 11 public tertiary hospitals five states. Most consultations occurred clinic setting (90%), followed by inpatient (6%) Telehealth (4%). Queensland highest proportion (9% state total). Sixty-six percent clinical diagnosis cardiomyopathy, 28% 0.7% disease. The reason for was most commonly as result investigations symptoms (73%). referred cardiologist (85%), general practitioner (9%) tests funded Health Service Nationally, 29% identified pathogenic or likely gene variant; 32% cardiomyopathies, 26% arrhythmia syndromes, 25% Conclusion We provide important information describing models care diseases throughout Australia. These baseline data will inform implementation impact whole genome sequencing healthcare landscape.