Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Aurélien Palmyre, Alexandre Moerman, Annick Toutain, Linda Akloul, Anne‐Claire Bréhin, Caroline Sawka, Caroline Rooryck, Élise Schaefer, Karine Nguyen, D. Dupin Deguine, Cécile Rouzier, Gipsy Billy, Krystelle Séné, I. Denjoy, Bruno Leheup, Marc Planes, Jean‐Michaël Mazzella, Stéphanie Staraci, Mélanie Hébert, Elsa Le Boette, Claire‐Cécile Michon, Marie-Lise Babonneau, Angélique Curjol, Amine Bekhechi, Rafik Mansouri, Ibticem Raji, Jean‐François Pruny, Véronique Fressart, Flavie Ader, Pascale Richard, Sophie Tézenas du Montcel, Marcela Gargiulo, Philippe Charron
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.