ArticleCirculation. Genomic and precision medicine2020
Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions.
Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Effectiveness of theCirculation · 2023Trial
- Clinical and Genetic Characteristics of Hereditary Arrhythmias and Cardiomyopathies in the Middle East.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Review
- Factors contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients.Journal of community genetics · 2026Article
- Digital genetic counseling services for cascade cardiogenetic testing.Journal of genetic counseling · 2026Article
- Genomic Architecture and Cascade Screening Gaps in Hypertrophic Cardiomyopathy: A Real-World Analysis.Journal of clinical medicine · 2026Article
- Article
- What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025Review
- Navigating family dynamics and ethical considerations in genetic diagnosis of pulmonary arterial hypertension: insights from in-depth semi-structured interviews.ERJ open research · 2025Article
- Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling.Genetics in medicine open · 2025Article
- Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review.Familial cancer · 2024Review
- Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.Journal of the American Heart Association · 2022Article
- Family screening in patients with isolated bicuspid aortic valve : Restriction to those with aortic dilatation is not justified.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2022Article
- The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.Frontiers in genetics · 2022Article
- A genetic researcher's devil's dilemma: Warn relatives about their genetic risk or respect confidentiality agreements with research participants?BMC medical ethics · 2021Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited cardiac conditions present with a wide range of symptoms and may even result in sudden cardiac death. Relatives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention and treatment. In 2 previous cohort studies of 115 probands with a pathogenic variant, family uptake of genetic counseling was assessed in the first year(s) after test result disclosure to the proband. This study assesses uptake in these cohorts in the 14 to 23 years following disclosure.
methodsUptake was determined retrospectively using patient records. First-degree relatives, and second-degree relatives of a deceased first-degree relative suspected of having an inherited cardiac condition, were considered eligible.
resultsOf 717 eligible relatives (598 first-degree and 119 second-degree relatives), 60% attended genetic counseling. Most of them (68.6%) attended genetic counseling in the first year. A total of 98.4% of counseled relatives pursued predictive DNA testing. A total of 49.2% was identified as carrier. Median time between disclosure to the proband and counseling of relatives was 6 months (range: 0-187 months). Attending genetic counseling was observed more frequently in first-degree relatives, female relatives, primary arrhythmia syndromes, relatives with manifest inherited cardiac condition, relatives without children and families with sudden cardiac death in first-degree relatives <40 years.
conclusionsDuring median follow-up of 16 years, 60.0% of relatives attended genetic counseling, with 41.0% in the first year. Our results may suggest that some relatives are not or inadequately informed or that barriers against genetic counseling are present. Further research is needed into interventions facilitating family communication, increasing awareness among families and healthcare professionals, and lowering thresholds for genetic counseling.
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