Publication

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

Christiaans, I., Mook, O. R. F., Alders, M., Bikker, H. & Deprez, R. H. L. D., Jun-2019, In : Netherlands Heart Journal. 27, 6, p. 299-303 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

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 apathogenic variant, 2)variants associated with another genetic heart disease, and 3)variants associated with asyndrome 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 amultidisciplinary team.

Original languageEnglish
Pages (from-to)299-303
Number of pages5
JournalNetherlands Heart Journal
Volume27
Issue number6
Publication statusPublished - Jun-2019

    Keywords

  • Next-generation sequencing, Variants of unknown significance, Cardiogenetics, Gene panel, Counselling, CARDIOLOGY WORKING GROUP, EUROPEAN-SOCIETY, CARDIOMYOPATHIES, PROFESSIONALS

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