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

Abstract

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

The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study

“…They are generally inherited as autosomal dominant traits, conferring a 50% risk to first-degree relatives. A diagnosis relies on clinical investigations with a cardiologist and, in some cases, genetic testing, which is ideally conducted in a multidisciplinary clinic [ 3 ].…”

Getting to the Heart of Genomics: Mainstreaming Cardiology Genomics in Queensland

“…Aim: Cardiovascular genomics is rapidly evolving with its growth attributed to advances in genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions [1]. There is a clear need to improve access to testing, support for patients and their families and assist Cardiologists manage patients with inherited heart disease [2]. In 2020, Queensland Genomics funded a program through the Genomic Institute, sponsored by the Statewide Cardiac Clinical Network, to offer streamlined genetic counselling and testing within cardiology-led clinics.…”

Genetic Basis of Childhood Cardiomyopathy

“…Analyses of patient's RNA extracted from blood confirms splicing outcomes and can provide additional evidence for pathogenicity. https://doi.org/10.1016/j.hlc.2022.04.007 04 Genetic Basis of Childhood Cardiomyopathy R. Bagnall 1,2, *, E. Singer 1,2 , J. Wacker 3 , N. Nowak 1,4 , J. Ingles 1,2,4,5,6 , I. King 6 , I. Macciocca 6,7,8 , J. Crowe 1,2 , A. Ronan 9,10 , R. Weintraub 3,6,7 , C. Semsarian Aim: Cardiovascular genomics is rapidly evolving with its growth attributed to advances in genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions [1].…”

“…King 6 , I. Macciocca 6,7,8 , J. Crowe 1,2 , A. Ronan 9,10 , R. Weintraub 3,6,7 , C. Semsarian Aim: Cardiovascular genomics is rapidly evolving with its growth attributed to advances in genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions [1]. There is a clear need to improve access to testing, support for patients and their families and assist Cardiologists manage patients with inherited heart disease [2]. In 2020, Queensland Genomics funded a program through the Genomic Institute, sponsored by the Statewide Cardiac Clinical Network, to offer streamlined genetic counselling and testing within cardiology-led clinics.…”

“…1,2,4 1 Centenary Institute, Sydney, NSW, Australia 2 University of Sydney, Sydney, NSW, Australia 3 Dept of Cardiology, Royal Children's Hospital, Melbourne, Vic, Australia 4 Dept of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia 5 Garvan Institute of Medical Research, Sydney, NSW, Australia 6 compaction (LVNC; n=3, 25%). Children with a family history of disease had a higher genetic testing diagnostic yield than those without a family history of disease (64% versus 41%).…”