Journal of Clinical Medicine (May 2020)
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 Brehin,
- Caroline Sawka,
- Caroline Rooryck,
- Elise Schaefer,
- Karine Nguyen,
- Delphine Dupin Deguine,
- Cécile Rouzier,
- Gipsy Billy,
- Krystelle Séné,
- Isabelle Denjoy,
- Bruno Leheup,
- Marc Planes,
- Jean-Michael Mazzella,
- Stéphanie Staraci,
- Mélanie Hebert,
- 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 Tezenas du Montcel,
- Marcela Gargiulo,
- Philippe Charron
Affiliations
- Céline Bordet
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Sandrine Brice
- Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, F75013 Paris, France
- Carole Maupain
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Estelle Gandjbakhch
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Bertrand Isidor
- Department of Genetics, Nantes University Hospital, 44000 Nantes, France
- Aurélien Palmyre
- APHP, department of Genetics, Ambroise Paré University Hospital, 92100 Boulogne-Billancourt, France
- Alexandre Moerman
- Department of Genetics, Lille University Hospital, Jeanne de Flandre Hospital, 59000 Lille, France
- Annick Toutain
- Department of Medical Genetics, Tours University Hospital, 37044 Tours, France
- Linda Akloul
- Department of Medical Genetics, Rennes University Hospital, 35000 Rennes, France
- Anne-Claire Brehin
- Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France
- Caroline Sawka
- Medical Genetics Unit, FHU TRANSLAD and GIMI Institute, Dijon University Hospital, 21000 Dijon, France
- Caroline Rooryck
- Department of Medical Genetics, CHU Bordeaux, Bordeaux, France, F-33000 Bordeaux, France
- Elise Schaefer
- Department of Genetics, Strasbourg University Hospital, Institut de Génétique Médicale d’Alsace, 67200 Strasbourg, France
- Karine Nguyen
- Department of Medical Genetics, APHM, Timone Hospital, Marseille Medical Genetics, Aix Marseille University, 13000 Marseille, France
- Delphine Dupin Deguine
- Department of Medical Genetics, Toulouse University Hospital, 31300 Toulouse, France
- Cécile Rouzier
- Department of Medical Genetics, Université Côte d’Azur, CHU, Inserm, CNRS, IRCAN, 06000 Nice, France
- Gipsy Billy
- Department of Medical Genetics, Centre Hospitalo-Universitaire Grenoble Alpes, 38700 Grenoble, France
- Krystelle Séné
- Clinical Genetics Unit, University Hospital, Guadeloupe University Hospital, 97159 Guadalupe Island, France
- Isabelle Denjoy
- APHP, Department of cardiology, Referral Center for hereditary heart disease, Bichat Hospital, 75018 Paris, France
- Bruno Leheup
- Department of Medical Genetics, University Hospital, 54042 Nancy, France
- Marc Planes
- Department of Medical Genetics, University Hospital Morvan, 29200 Brest, France
- Jean-Michael Mazzella
- APHP, Department of Medical Genetics, Hôpital Européen Georges Pompidou, 75015 Paris, France
- Stéphanie Staraci
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Mélanie Hebert
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Elsa Le Boette
- Department of Genetics, Saint Brieuc Hospital, 22000 Saint-Brieuc, France
- Claire-Cécile Michon
- Filière nationale de santé CARDIOGEN, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Marie-Lise Babonneau
- Filière nationale de santé CARDIOGEN, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Angélique Curjol
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Amine Bekhechi
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Rafik Mansouri
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Ibticem Raji
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Jean-François Pruny
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Véronique Fressart
- APHP, UF Molecular Cardiogenetics and Myogenetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Flavie Ader
- APHP, UF Molecular Cardiogenetics and Myogenetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Pascale Richard
- APHP, UF Molecular Cardiogenetics and Myogenetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- Sophie Tezenas du Montcel
- Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, AP-HP, Hôpitaux Universitaires Pitié-Salpêtrière—Charles Foix, F75013 Paris, France
- Marcela Gargiulo
- Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, AP-HP, Hôpitaux Universitaires Pitié-Salpêtrière—Charles Foix, F75013 Paris, France
- Philippe Charron
- APHP, Referral Center for hereditary heart disease, Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France
- DOI
- https://doi.org/10.3390/jcm9051365
- Journal volume & issue
-
Vol. 9,
no. 5
p. 1365
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 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.
Keywords
