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dc.contributor.authorAustin, Rachel
dc.contributor.authorQuinn, Michael CJ
dc.contributor.authorAfoakwah, Clifford
dc.contributor.authorMetke-Jimenez, Alejandro
dc.contributor.authorLeroux, Hugo
dc.contributor.authorAtherton, John
dc.contributor.authorBrown, Jaye S
dc.contributor.authorWornham, Linda J
dc.contributor.authorMacciocca, Ivan
dc.contributor.authorde Silva, Michelle G
dc.contributor.authorThompson, Tina
dc.contributor.authorMartin, Ellenore
dc.contributor.authorHilton, Desiree
dc.contributor.authorScuffham, Paul
dc.contributor.authoret al.
dc.description.abstractBACKGROUND: 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. CONCLUSION: We provide important information describing the current models of care for genetic heart diseases throughout Australia. These baseline data will inform the implementation and impact of whole genome sequencing in the Australian healthcare landscape.
dc.publisherElsevier BV
dc.relation.ispartofjournalInternational Journal of Cardiology
dc.subject.fieldofresearchCardiorespiratory Medicine and Haematology
dc.subject.fieldofresearchPublic Health and Health Services
dc.subject.keywordsCardiovascular genetics
dc.subject.keywordsGenomic sequencing
dc.titleInvestigation of current models of care for genetic heart disease in Australia: A national clinical audit
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationAustin, R; Quinn, MCJ; Afoakwah, C; Metke-Jimenez, A; Leroux, H; Atherton, J; Brown, JS; Wornham, LJ; Macciocca, I; de Silva, MG; Thompson, T; Martin, E; Hilton, D; Scuffham, P; et al., Investigation of current models of care for genetic heart disease in Australia: A national clinical audit, International Journal of Cardiology, 2021
gro.description.notepublicThis publication has been entered as an advanced online version in Griffith Research Online.
gro.hasfulltextNo Full Text
gro.griffith.authorScuffham, Paul A.
gro.griffith.authorAfoakwah, Clifford

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