ArticleNetherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation2019
Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice.
Article in Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden.Journal of translational medicine · 2026Article
- Human Genetics of Cardiomyopathies.Advances in experimental medicine and biology · 2024Article
- Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine.Journal of personalized medicine · 2023Review
- NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.Genes · 2021Article
- Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.Journal of genetic counseling · 2021Article
- Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.Frontiers in endocrinology · 2020Review
- Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping.NPJ genomic medicine · 2020Article
- Evaluation of gene panels for inherited cardiac disease-is less more?Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNext-generation sequencing gene panels are increasingly used for genetic diagnosis in inherited cardiac diseases. Besides pathogenic variants, multiple variants, variants of uncertain significance (VUS) and incidental findings can be detected. Such test results can be challenging for counselling and clinical decision making.
methodsWe present patient cases to illustrate the challenges that can arise when unclear genetic test results are detected in cardiogenetic gene panels.
resultsWe identified three types of challenging gene panel results: 1) one or more VUS in combination with a pathogenic variant, 2) variants associated with another genetic heart disease, and 3) variants associated with a syndrome involving cardiac features.
conclusionLarge gene panels not only increase the detection rates of pathogenic variants but also of variants with uncertain pathogenicity, multiple variants and incidental findings. Gene panel results can be challenging for genetic counselling and require proper pre-test and post-test counselling. We advise evaluation of challenging cases by a multidisciplinary team.
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