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

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 p

SUBMITTER: Chassagne A 

PROVIDER: S-EPMC6461801 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature