Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-05

AUTHORS

Aline Chassagne, Aurore Pélissier, Françoise Houdayer, Elodie Cretin, Elodie Gautier, Dominique Salvi, Sarah Kidri, Aurélie Godard, Christel Thauvin-Robinet, Alice Masurel, Daphné Lehalle, Nolwenn Jean-Marçais, Julien Thevenon, Gaetan Lesca, Audrey Putoux, Marie-Pierre Cordier, Sophie Dupuis-Girod, Marianne Till, Yannis Duffourd, Jean-Baptiste Rivière, Lorraine Joly, Christine Juif, Olivier Putois, Pierre Ancet, Anne-Sophie Lapointe, Paulette Morin, Patrick Edery, Massimiliano Rossi, Damien Sanlaville, Sophie Béjean, Christine Peyron, Laurence Faivre

ABSTRACT

Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty. More... »

PAGES

1-10

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-018-0332-y

DOI

http://dx.doi.org/10.1038/s41431-018-0332-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111837565

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30710147


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