Abstract
Cardiogenetics faces two major challenges: identifying index cases and making optimal use of sequencing technologies. Nonexpert physicians need to be actively engaged to identify index cases, not only in cardiology and clinical genetics but also in primary care, population screening, at postmortem, and elsewhere in health care. Training, including e-modules, is needed to update knowledge and skills. An active approach to test family members of diagnosed cases may save lives. With decreasing prices of sequencing technologies, the temptation to sequence everything that is possible might lead to many variants of unknown significance. Patients and their families would be better served by targeted analysis of variants of high predictive value and selecting the DNA test based on the phenotype. Data sharing and more detailed and precise phenotyping will help to better understand the current variants of unknown significance.
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Cornel, M.C., Houwink, I., Semsarian, C. (2016). Future of Cardiogenetics. In: Baars, H., Doevendans, P., Houweling, A., van Tintelen, J. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-319-44203-7_24
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