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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.


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.

SUBMITTER: Bordet C 

PROVIDER: S-EPMC7290753 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

Bordet Céline C   Brice Sandrine S   Maupain Carole C   Gandjbakhch Estelle E   Isidor Bertrand B   Palmyre Aurélien A   Moerman Alexandre A   Toutain Annick A   Akloul Linda L   Brehin Anne-Claire AC   Sawka Caroline C   Rooryck-Thambo Caroline C   Schaefer Elise E   Nguyen Karine K   Dupin Deguine Delphine D   Rouzier Cécile C   Billy Gipsy G   Séné Krystelle K   Denjoy Isabelle I   Leheup Bruno B   Planes Marc M   Mazzella Jean-Michael JM   Staraci Stéphanie S   Hebert Mélanie M   Le Boette Elsa E   Michon Claire-Cécile CC   Babonneau Marie-Lise ML   Curjol Angélique A   Bekhechi Amine A   Mansouri Rafik R   Raji Ibticem I   Pruny Jean-François JF   Fressart Véronique V   Ader Flavie F   Richard Pascale P   Tezenas du Montcel Sophie S   Gargiulo Marcela M   Charron Philippe P  

Journal of clinical medicine 20200506 5


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: <i>n</i> = 264) and once to the retrospective cohort (RCo: <i>n</i> = 253). The main motivations for underg  ...[more]

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