Abstract
Hereditary heart diseases are most often characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing (PGT) is offered to asymptomatic relatives to allow targeted medical care with early therapeutics in order to reduce the risk of complications. The aim of this study was to evaluate the psychological and socio-professional impact of predictive genetic testing in hereditary heart diseases through a prospective and retrospective study. This multicentric French study involved 20 expert centers in hereditary heart diseases. We included 517 adult relatives (42.3 ± 16.7 years, 60.6% females) who performed PGT (prospective study: n = 264, retrospective study: n = 253). The opinion and experience were collected via auto-questionnaires, at various moments in the prospective study, with different items and validated scales (STAI and IES). In the prospective study, family history was characterized by cardiomyopathy (88.4%) and channelopathies (11.6%). The main motivations for performing the test were: “to remove doubt” (65.3%), “for children” (64.0%), “to benefit from medical supervision” (34.9%). A mutation was present in 39.4% of relatives. No regret was expressed after testing (only 2.3% regrets). The result did not lead to a socio-professional change or family relationship change in 60.7%. Among those who had a change, it was perceived as unfavorable for only 3%. The level of anxiety (STAI) increases before the test result and decreased to return to baseline. Subjects with depression history were more likely to develop anxiety at long-term after multivariate analyses ( P = 0.004). Our results show that contrary to a widespread opinion, the medical benefit was not the main motivation for predictive genetic testing. In most cases, no or marginal adverse psychological and socio-professional impact of genetic testing was observed when performed by a team expert in predictive testing.
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