ArticleEuropean journal of human genetics : EJHG2014
Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Barriers and facilitators for cascade testing in genetic conditions: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study.European journal of human genetics : EJHG · 2026Article
- Family Leaders Navigate Burden to Communicate Risk during Cascade Screening after Sudden Cardiac Death in the Young.Public health genomics · 2026Article
- Unmet health-related needs of heritable arrhythmogenic cardiomyopathy carriers in Belgium: The UR-HEART survey study.Heart rhythm O2 · 2025Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
- Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project.European journal of human genetics : EJHG · 2024Article
- Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.European journal of human genetics : EJHG · 2024Article
- Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.European journal of human genetics : EJHG · 2024Article
- Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.Circulation. Genomic and precision medicine · 2022Article
- A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing.Journal of pediatric genetics · 2022Article
- Recent Non-Invasive Parameters to Identify Subjects at High Risk of Sudden Cardiac Death.Journal of clinical medicine · 2022Review
- Study protocol: the Australian genetics and life insurance moratorium-monitoring the effectiveness and response (A-GLIMMER) project.BMC medical ethics · 2021Article
- Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions.Circulation. Genomic and precision medicine · 2020Article
- Psychological Issues in Managing Families with Inherited Cardiovascular Diseases.Cold Spring Harbor perspectives in medicine · 2020Review
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.Journal of clinical medicine · 2020Article
- Family Relationships Associated With Communication and Testing for Inherited Cardiac Conditions.Western journal of nursing research · 2019Article
- First Responder to Genomic Information: A Guide for Primary Care Providers.Molecular diagnosis & therapy · 2019Review
- Article
- Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review.Journal of genetic counseling · 2018Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at any age, yet are often asymptomatic and clinically undetected. Prophylactic interventions are available and cascade testing is recommended to identify family members at risk. When a disease-causing mutation has been identified in a family, pre-symptomatic genetic testing (PSGT) is available. This study explores perceptions of the cascade process, impact of PSGT and attitudes towards direct contact as an alternative to family-mediated dissemination for ICCs. In depth, interviews were conducted with 22 participants eligible for PSGT for Hypertrophic Cardiomyopathy or Long QT syndrome. Data were analysed using an inductive, thematic approach. Risk is perceived to be low pre-test in the absence of symptoms, and participants frequently test with the aim of ruling out risk to self and children. Testing of children is a complex decision; although older participants have concerns about possible adverse effects of genetic testing early in the life course, young participants are pragmatic about their result. The meaning of a positive genetic test result may be difficult to conceptualise in the absence of clinical evidence of disease, and this may deter further dissemination to at-risk family members. A majority of participants see advantages in direct contact from health professionals and support it in principle. Implications for practice include addressing risk perception pre-test, and presenting genetic test information as part of a risk stratification process rather than a binary outcome. Families may require more support or intervention in cascading genetic test information.
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