{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:08:17Z","timestamp":1790370497327,"version":"4.1.0"},"reference-count":34,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T00:00:00Z","timestamp":1588723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation maladies rares","doi-asserted-by":"publisher","award":["FMR R14196DD"],"award-info":[{"award-number":["FMR R14196DD"]}],"id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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 \u201cto remove doubt\u201d and \u201cfor their children\u201d. The level of anxiety increased between pre-test and result appointments (p &lt;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 &lt;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.<\/jats:p>","DOI":"10.3390\/jcm9051365","type":"journal-article","created":{"date-parts":[[2020,5,7]],"date-time":"2020-05-07T04:46:07Z","timestamp":1588826767000},"page":"1365","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study"],"prefix":"10.3390","volume":"9","author":[{"given":"C\u00e9line","family":"Bordet","sequence":"first","affiliation":[{"name":"APHP, Referral Center for hereditary heart disease, Department of Genetics, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5298-8389","authenticated-orcid":false,"given":"Sandrine","family":"Brice","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, Institut Pierre Louis d\u2019Epid\u00e9miologie et de Sant\u00e9 Publique, F75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Maupain","sequence":"additional","affiliation":[{"name":"APHP, Referral Center for hereditary heart disease, Department of Genetics, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"APHP, department of cardiology, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ACTION Study Group, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Gandjbakhch","sequence":"additional","affiliation":[{"name":"APHP, Referral Center for hereditary heart disease, Department of Genetics, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"APHP, department of cardiology, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ACTION Study Group, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"Sorbonne Universit\u00e9, INSERM, UMRS 1166 and ICAN Institute for Cardiometabolism and Nutrition, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Department of Genetics, Nantes University Hospital, 44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Palmyre","sequence":"additional","affiliation":[{"name":"APHP, department of Genetics, Ambroise Par\u00e9 University Hospital, 92100 Boulogne-Billancourt, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Moerman","sequence":"additional","affiliation":[{"name":"Department of Genetics, Lille University Hospital, Jeanne de Flandre Hospital, 59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5999-5300","authenticated-orcid":false,"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Tours University Hospital, 37044 Tours, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Akloul","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Rennes University Hospital, 35000 Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Claire","family":"Brehin","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Sawka","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, FHU TRANSLAD and GIMI Institute, Dijon University Hospital, 21000 Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, CHU Bordeaux, Bordeaux, France, F-33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Department of Genetics, Strasbourg University Hospital, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace, 67200 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, APHM, Timone Hospital, Marseille Medical Genetics, Aix Marseille University, 13000 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Dupin Deguine","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Toulouse University Hospital, 31300 Toulouse, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Lise","family":"Babonneau","sequence":"additional","affiliation":[{"name":"Fili\u00e8re nationale de sant\u00e9 CARDIOGEN, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e9lique","family":"Curjol","sequence":"additional","affiliation":[{"name":"APHP, Referral Center for hereditary heart disease, Department of Genetics, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amine","family":"Bekhechi","sequence":"additional","affiliation":[{"name":"APHP, Referral Center for hereditary heart disease, Department of Genetics, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, 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Cardiometabolism and Nutrition, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-4330","authenticated-orcid":false,"given":"Sophie","family":"Tezenas du Montcel","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, Institut Pierre Louis d\u2019Epid\u00e9miologie et de Sant\u00e9 Publique, AP-HP, H\u00f4pitaux Universitaires Piti\u00e9-Salp\u00eatri\u00e8re\u2014Charles Foix, F75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Gargiulo","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, Institut Pierre Louis d\u2019Epid\u00e9miologie et de Sant\u00e9 Publique, AP-HP, H\u00f4pitaux Universitaires Piti\u00e9-Salp\u00eatri\u00e8re\u2014Charles Foix, F75013 Paris, France"},{"name":"Institut of Myologie, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1782-1118","authenticated-orcid":false,"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[{"name":"APHP, Referral Center for hereditary heart disease, Department of Genetics, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"ACTION Study Group, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"},{"name":"Sorbonne Universit\u00e9, INSERM, UMRS 1166 and ICAN Institute for Cardiometabolism and Nutrition, 75013 Paris, France"},{"name":"APHP, department of Genetics, Ambroise Par\u00e9 University Hospital, 92100 Boulogne-Billancourt, France"},{"name":"Fili\u00e8re nationale de sant\u00e9 CARDIOGEN, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/sj.ejhg.5200532","article-title":"Psychological consequences of predictive genetic testing: A systematic review","volume":"8","author":"Broadstock","year":"2000","journal-title":"Eur. 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