Factors influencing uptake of familial long QT syndrome genetic testing

Burns, Charlotte, McGaughran, Julie, Davis, Andrew, Semsarian, Christopher and Ingles, Jodie (2016) Factors influencing uptake of familial long QT syndrome genetic testing. American Journal of Medical Genetics Part A, 170 2: 418-425. doi:10.1002/ajmg.a.37455

Author Burns, Charlotte
McGaughran, Julie
Davis, Andrew
Semsarian, Christopher
Ingles, Jodie
Title Factors influencing uptake of familial long QT syndrome genetic testing
Journal name American Journal of Medical Genetics Part A   Check publisher's open access policy
ISSN 1552-4833
Publication date 2016-02-01
Year available 2015
Sub-type Article (original research)
DOI 10.1002/ajmg.a.37455
Open Access Status Not Open Access
Volume 170
Issue 2
Start page 418
End page 425
Total pages 8
Place of publication Hoboken NJ, United States
Publisher John Wiley & Sons
Language eng
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.
Keyword Long QT syndrome
Genetic testing
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID 1036756
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
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