Abstract
Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were “to remove doubt” and “for their children”. The level of anxiety increased between pre-test and result appointments (p <0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p <0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.
Highlights
Advances in molecular genetics in numerous hereditary diseases have enabled the development of pre-symptomatic or predictive genetic testing (PGT), which raises various medical challenges depending on the disease and the treatment resources [1]
The subjects were predominantly female (60.6% in prospective cohort (PCo) and 60.9% in retrospective cohort (RCo)), and most subjects were at risk of cardiomyopathy (88.4% in PCo and 79.1% in RCo)
Regret at having undergone Predictive genetic testing (PGT) was reported by 2.3% (6/262) of subjects in the prospective cohort and by 0.8% (1/131) of subjects in the retrospective cohort. To our knowledge this is the first psychosocial study after PGT in hereditary heart diseases, that simultaneously assessed the reasons for undergoing PGT, anxiety, distress and the social impact of the disclosure of genetic test results
Summary
Advances in molecular genetics in numerous hereditary diseases have enabled the development of pre-symptomatic or predictive genetic testing (PGT), which raises various medical challenges depending on the disease and the treatment resources [1]. Med. 2020, 9, 1365 syndrome and Brugada syndrome These diseases have a prevalence of 1/2500 to 1/5000 for the main ones, and 1/500 for the most frequent (hypertrophic cardiomyopathy). They are associated with a risk of heart failure and/or arrhythmia which may result in sudden death. The mode of transmission is usually autosomal dominant, and these diseases are characterised by age-related increase in penetrance, with phenotypic expression often delayed until adulthood Molecular understanding in this field [10,11] has led to increasing development of clinical genetic testing and international guidelines recommending PGT of asymptomatic relatives at risk of hereditary heart disease [12,13,14]. PGT identifies those who do carry the mutation and who need targeted medical management via regular cardiovascular follow-up to ensure prompt and optimal treatment
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