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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

ABSTRACT: Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26). Three groups of actionable SF were rendered: predisposition to late-onset actionable diseases; genetic counseling; pharmacogenomics. Participants expressed strong interest in obtaining SF and a high satisfaction level when a SF is reported. The medical actionability of the SF reinforced parents' sense of taking action for their child and was seen as an opportunity. While we observed no serious psychological concerns, we showed that these results could have psychological consequences, in particular for late-onset actionable diseases SF, within families already dealing with rare diseases. This study shows that participants remain in favor of accessing SF despite the potential psychological, care, and lifestyle impacts, which are difficult to anticipate. The establishment of a management protocol, including the support of a multidisciplinary team, would be necessary if national policy allows the reporting of these data.

SUBMITTER: Viora-Dupont E

PROVIDER: S-EPMC11368951 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Viora-Dupont Eléonore E Robert Françoise F Chassagne Aline A Pélissier Aurore A Staraci Stéphanie S Sanlaville Damien D Edery Patrick P Lesca Gaetan G Putoux Audrey A Pons Linda L Cadenes Amandine A Baurand Amandine A Sawka Caroline C Bertolone Geoffrey G Spetchian Myrtille M Yousfi Meriem M Salvi Dominique D Gautier Elodie E Vitobello Antonio A Denommé-Pichon Anne-Sophie AS Bruel Ange-Line AL Tran Mau-Them Frédéric F Faudet Anne A Keren Boris B Labalme Audrey A Chatron Nicolas N Abel Carine C Dupuis-Girod Sophie S Poisson Alice A Buratti Julien J Mignot Cyril C Afenjar Alexandra A Whalen Sandra S Charles Perrine P Heide Solveig S Mouthon Linda L Moutton Sébastien S Sorlin Arthur A Nambot Sophie S Briffaut Anne-Sophie AS Asensio Marie-Laure ML Philippe Christophe C Thauvin-Robinet Christel C Héron Delphine D Rossi Massimiliano M Meunier-Bellard Nicolas N Gargiulo Marcela M Peyron Christine C Binquet Christine C Faivre Laurence L

European journal of human genetics : EJHG 20240527 9

Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; quali ...[more]

PMID: 38802530

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Publications

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

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