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. 2020 May 6;9(5):1365.
doi: 10.3390/jcm9051365.

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

Céline Bordet  1 , Sandrine Brice  2 , Carole Maupain  1   3   4 , Estelle Gandjbakhch  1   3   4   5 , Bertrand Isidor  6 , Aurélien Palmyre  7 , Alexandre Moerman  8 , Annick Toutain  9 , Linda Akloul  10 , Anne-Claire Brehin  11 , Caroline Sawka  12 , Caroline Rooryck-Thambo  13 , Elise Schaefer  14 , Karine Nguyen  15 , Delphine Dupin Deguine  16 , Cécile Rouzier  17 , Gipsy Billy  18 , Krystelle Séné  19 , Isabelle Denjoy  20 , Bruno Leheup  21 , Marc Planes  22 , Jean-Michael Mazzella  23 , Stéphanie Staraci  1 , Mélanie Hebert  1 , Elsa Le Boette  24 , Claire-Cécile Michon  25 , Marie-Lise Babonneau  25 , Angélique Curjol  1 , Amine Bekhechi  1 , Rafik Mansouri  1 , Ibticem Raji  1 , Jean-François Pruny  1   20 , Véronique Fressart  26 , Flavie Ader  26   27 , Pascale Richard  26   5 , Sophie Tezenas du Montcel  28 , Marcela Gargiulo  28   29 , Philippe Charron  1   4   5   7   25
Affiliations

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

Céline Bordet et al. J Clin Med. .

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.

Keywords: anxiety; cardiomyopathies; distress; hereditary heart diseases; predictive genetic testing; psychological; social.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flow chart of enrolment. * Inclusion or exclusion criteria not respected: risk of vascular disease (Marfan syndrome) (n = 6), abnormal cardiovascular findings (n = 1), no sampling after provision of information (n = 2), unwilling to complete questionnaire (n = 2), predictive genetic testing not done because mutation reclassified as a polymorphism (n = 3); ** Inclusion or exclusion criteria not respected: abnormal cardiovascular findings (n = 3), received test result by post, with no physical meeting (n = 6), failure to collect test result (n = 1), already included in the PCo (n = 1), interval between disclosure of test result and sending of completed questionnaire <30 days (n = 7).
Figure 2
Figure 2
Social or professional changes and/or changes in family relationships in the prospective cohort (A) and retrospective cohort (B).
See this image and copyright information in PMC

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