072: Psychological impact of predictive genetic testing in cardiomyopathies

BackgroundMost Cardiomyopathies are inherited diseases with autosomal dominant inheritance and delayed cardiac expression. In families with a documented causal mutation, predictive genetic testing can be proposed to “healthy” relatives to appropriately manage medical follow-up. Psychological impact of predictive genetic testing is however poorly described in these diseases.Aim and methodsWe performed a prospective study about the psychological impact of predictive genetic testing in adults seen in our out-patient multidisciplinary consultation (cardiologist, genetic counsellor, and psychologist). Self-report questionnaires were proposed during the initial consultation (Q1) and 1 to 3 month after genetic result was given (Q2). Questionnaires used validated scales to evaluate anxiety, depression, hopelessness, self-esteem, impact of announcement, quality of life (QOL), and motivations.ResultsSixty-six adults completed questionnaire Q1 and 38 completed questionnaire Q2 (15 mutation carriers, 23 non carriers). Analysis of psychometric tests revealed no significant modification before/after genetic results. However, genetic status influenced the level of general anxiety, depression score and QOL. The consultation process was evaluated as useful (97%) and reassuring (80%). The interview with the pyschologist was useful especially for the anticipation of the result (73%). Waiting period (minimal period fixed between consultation and blood sampling) was evaluated as reassuring (38%) but unnecessary (91%).ConclusionWe report on the first French evaluation of the psychological impact of predictive genetic testing in cardiomyopathies. No deleterious effect of genetic results was observed. However the study underlines the usefulness of multidisciplinary management, especially to help the relatives to better anticipate the genetic result and consequences