Gendiagnostik bei kardiovaskulären Erkrankungen: Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), der Gesellschaft für Humangenetik (GfH) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK)

This expert consensus paper describes the relevance, practical approach and national legal regulations in molecular genetic diagnostics with the focus on cardiovascular diseases. Diagnostic recommendations are given for hereditary arrhythmia syndromes, cardiomyopathies, cardiovascular defects, rare cardiac syndromes, familial hypercholesterolemia, molecular autopsy (sudden cardiac death) and pharmacogenetics. The previous position paper of the DGK/DGPK from 2015 was now updated and agreed with the GfH as an additional partcipating society. With this update, the interdisciplinary working group of authors consisting of cardiologists, pediatric cardiologists and human geneticists with expertise in the treatment of cardiovascular diseases in adults, children and adolescents, takes into account the current state of the increasing growth of cardiogenetic knowledge. High-throughput next generation sequencing (NGS) was meanwhile introduced for clinical gene diagnostics as a service of the statutory health insurance, which led to a much higher rate of positive results. The genetic diagnostics should be accompanied by genetic counselling before and after genetic testing. A genetic diagnosis of a disease frequently leads to better treatment options and medical interventions, which can improve the quality of life and prognosis of patients. The systematic investigation of patients necessitates an exact family history and a detailed phenotyping assessment of the index patient. Other family members should undergo molecular genetic testing when this directly leads to a diagnostic, therapeutic and/or prognostic consequences. A molecular genetic testing of children and adolescents can be carried out as part of the family cascade screening when the genetic finding leads to direct therapeutic consequences. There is a necessity for interdisciplinary patient care, particularly for syndromic cardiac disorders. During the analytical assessment of a genetic test (bioinformatic sequence evaluation) also additional molecular genetic findings (incidental findings) may come up. The large genetic heterogeneity and variable penetrance of cardiovascular diseases und their increasing knowledge still represent a major challenge in the care of affected patients and emphasis additional patient monitoring in specialized care units.