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Title: Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.
Austin Authors: Garza, Denisse;Hildebrand, Michael S ;Penington, Anthony J;Brown, Natasha;de Silva, Michelle G
Affiliation: Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Victoria, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.;Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Epilepsy Research Centre
Issue Date: 26-Aug-2023
Date: 2023
Publication information: Journal of Genetic Counseling 2023-08-26
Abstract: Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support. Nine semi-structured interviews were conducted with Australian healthcare professionals involved in the provision of care for individuals with vascular anomalies. Thematic analysis identified six themes: (1) Molecular diagnosis is beneficial; (2) psychosocial needs can motivate families to pursue a molecular diagnosis; (3) molecular genetic testing for vascular anomalies is complex; (4) genetic service provision is not a one size fits all; (5) a client-centered approach for genetic service provision can go a long way; and (6) the value of genetic counselors. Based on our findings, implementation of a vascular anomalies genetic diagnostic program inclusive of genetic counseling may be challenging, yet such programs are likely to benefit both patients and their families, as well as healthcare professionals. As this paradigm shift unfolds, genetic counselors have an opportunity to contribute to the vascular anomaly field by educating healthcare professionals and patients, by participating in multidisciplinary clinics to support complex cases and by raising awareness regarding their practice and potential contributions.
DOI: 10.1002/jgc4.1776
ORCID: 0009-0005-6005-0434
Journal: Journal of Genetic Counseling
PubMed URL: 37632295
ISSN: 1573-3599
Type: Journal Article
Subjects: complex disease
genetic counseling
genetic counselors
genetic testing
multidisciplinary teams
vascular anomalies
Appears in Collections:Journal articles

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