title: Factors influencing uptake of familial long QT syndrome genetic testing.
abstract: Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the importance of genetic testing in the diagnosis of asymptomatic at-risk family members. Effective access, uptake, and communication of genetic testing are critical for comprehensive cascade family screening and prevention of disease complications such as sudden cardiac death. The aim of this study was to describe factors influencing uptake of LQTS genetic testing, including those relating to access and family communication. We show those who access genetic testing are overrepresented by the socioeconomically advantaged, and that although overall family communication is good, there are some important barriers to be addressed. There were 75 participants (aged 18 years or more, with a clinical and/or genetic diagnosis of LQTS; response rate 71%) who completed a survey including a number of validated scales; demographics; and questions about access, uptake, and communication. Mean age of participants was 46 ± 16 years, 20 (27%) were males and 60 (80%) had genetic testing with a causative gene mutation in 42 (70%). Overall uptake of cascade testing within families was 60% after 4 years from proband genetic diagnosis. All participants reported at least one first-degree relative had been informed of their risk, whereas six (10%) reported at least one first-degree relative had not been informed. Those who were anxious or depressed were more likely to perceive barriers to communicating. Genetic testing is a key aspect of care in LQTS families and intervention strategies that aim to improve equity in access and facilitate effective family communication are needed.
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.|Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.|Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Burns
authors.affiliation: Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.|School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
authors.forename: Julie
authors.initials: J
authors.lastname: McGaughran
authors.affiliation: Department of Cardiology, Royal Children's Hospital, Melbourne, Victoria, Australia.|Murdoch Children's Research Institute, Melbourne, Victoria, Australia.|University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Andrew
authors.initials: A
authors.lastname: Davis
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.|Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.|Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Semsarian
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.|Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.|Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
authors.forename: Jodie
authors.initials: J
authors.lastname: Ingles
mesh_terms: D000328:Adult; D003144:Communication Barriers; D004562:Electrocardiography; D005190:Family / Q000523:psychology*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000706:statistics & numerical data*; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012189:Retrospective Studies; D012959:Socioeconomic Factors
keywords: communication; genetic testing; long QT syndrome; psychosocial; uptake