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

被引：16

作者：

Bordet, Celine ^{[1
]}

Brice, Sandrine ^{[2
]}

Maupain, Carole ^{[1
,3
,4
]}

Gandjbakhch, Estelle ^{[1
,3
,4
,5
,6
]}

Isidor, Bertrand ^{[7
]}

Palmyre, Aurelien ^{[8
]}

Moerman, Alexandre ^{[9
]}

Toutain, Annick ^{[10
]}

Akloul, Linda ^{[11
]}

Brehin, Anne-Claire ^{[12
,13
,14
]}

Sawka, Caroline ^{[15
,16
]}

Rooryck, Caroline ^{[17
]}

Schaefer, Elise ^{[18
]}

Nguyen, Karine ^{[19
]}

Deguine, Delphine Dupin ^{[20
]}

Rouzier, Cecile ^{[21
]}

Billy, Gipsy ^{[22
]}

Sene, Krystelle ^{[23
]}

Denjoy, Isabelle ^{[24
]}

Leheup, Bruno ^{[25
]}

Planes, Marc ^{[26
]}

Mazzella, Jean-Michael ^{[27
]}

Staraci, Stephanie ^{[1
]}

Hebert, Melanie ^{[1
]}

Le Boette, Elsa ^{[28
]}

Michon, Claire-Cecile ^{[29
]}

Babonneau, Marie-Lise ^{[29
]}

Curjol, Angelique ^{[1
]}

Bekhechi, Amine ^{[1
]}

Mansouri, Rafik ^{[1
]}

Raji, Ibticem ^{[1
]}

Pruny, Jean-Francois ^{[1
,24
]}

Fressart, Veronique ^{[30
]}

Ader, Flavie ^{[30
,31
]}

Richard, Pascale ^{[5
,6
,30
]}

du Montcel, Sophie Tezenas ^{[32
]}

Gargiulo, Marcela ^{[32
,33
]}

Charron, Philippe ^{[1
,4
,5
,6
,8
,29
]}

机构：

[1] Pitie Salpetriere Univ Hosp, Referral Ctr Hereditary Heart Dis, AP HP, Dept Genet, F-75013 Paris, France

[2] Sorbonne Univ, INSERM, Inst Pierre Louis Epidemiol & Sante Publ, F-75013 Paris, France

[3] Pitie Salpetriere Univ Hosp, AP HP, Dept Cardiol, F-75013 Paris, France

[4] Pitie Salpetriere Univ Hosp, ACT Study Grp, F-75013 Paris, France

[5] Sorbonne Univ, INSERM, UMRS 1166, F-75013 Paris, France

[6] ICAN Inst Cardiometab & Nutr, F-75013 Paris, France

[7] Nantes Univ Hosp, Dept Genet, F-44000 Nantes, France

[8] Ambroise Pare Univ Hosp, AP HP, Dept Genet, F-92100 Boulogne, France

[9] Lille Univ Hosp, Jeanne de Flandre Hosp, Dept Genet, F-59000 Lille, France

[10] Tours Univ Hosp, Dept Med Genet, F-37044 Tours, France

[11] Rennes Univ Hosp, Dept Med Genet, F-35000 Rennes, France

[12] Normandie Univ, UNIROUEN, Inserm U1245, F-76000 Rouen, France

[13] Rouen Univ Hosp, Dept Genet, F-76000 Rouen, France

[14] Normandy Ctr Genom & Personalized Med, Reference Ctr Dev Disorders, F-76000 Rouen, France

[15] Dijon Univ Hosp, Med Genet Unit, FHU TRANSLAD, F-21000 Dijon, France

[16] Dijon Univ Hosp, GIMI Inst, F-21000 Dijon, France

[17] CHU Bordeaux, Dept Med Genet, F-33000 Bordeaux, France

[18] Strasbourg Univ Hosp, Dept Genet, Inst Genet Medi Alsace, F-67200 Strasbourg, France

[19] Aix Marseille Univ, Timone Hosp, Dept Med Genet, Marseille Med Genet,APHM, F-13000 Marseille, France

[20] Toulouse Univ Hosp, Dept Med Genet, F-31300 Toulouse, France

[21] Univ Cote Azur, Dept Med Genet, CHU, INSERM,CNRS,IRCAN, F-06000 Nice, France

[22] CHU Grenoble Alpes, Dept Med Genet, F-38700 Grenoble, France

[23] Guadeloupe Univ Hosp, Univ Hosp, Clin Genet Unit, F-97159 Les Abymes, Guadeloupe, France

[24] Hop Xavier Bichat, AP HP, Referral Ctr Hereditary Heart Dis, Dept Cardiol, F-75018 Paris, France

[25] Univ Hosp, Dept Med Genet, F-54042 Nancy, France

[26] Univ Hosp Morvan, Dept Med Genet, F-29200 Brest, France

[27] Hop Europeen Georges Pompidou, AP HP, Dept Med Genet, F-75015 Paris, France

[28] St Brieuc Hosp, Dept Genet, F-22000 St Brieuc, France

[29] Pitie Salpetriere Univ Hosp, Filiere Natl Sante CARDIOGEN, F-75013 Paris, France

[30] Pitie Salpetriere Univ Hosp, UF Mol Cardiogenet & Myogenet, AP HP, F-75013 Paris, France

[31] Fac Pharm Paris Descartes, Dept 3, F-75006 Paris, France

[32] Sorbonne Univ, Hop Univ Pitie Salpetriere Charles Foix, Inst Pierre Louis Epidemiol & Sante Publ, INSERM,AP HP, F-75013 Paris, France

[33] Pitie Salpetriere Univ Hosp, Inst Myol, F-75013 Paris, France

来源：

JOURNAL OF CLINICAL MEDICINE | 2020年 / 9卷 / 05期

关键词：

hereditary heart diseases; predictive genetic testing; psychological; social; cardiomyopathies; anxiety; distress; PSYCHOLOGICAL CONSEQUENCES; HYPERTROPHIC CARDIOMYOPATHY; HUNTINGTONS-DISEASE; EUROPEAN-SOCIETY; GUIDELINES; STATEMENT; DISTRESS; CARRIERS; EVENTS; HEALTH;

D O I：

10.3390/jcm9051365

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：14

共 34 条

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