An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

ABSTRACT: Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their decision are virtually non-existant in Europe. In this work, we report the acceptance rate of SFs, calculate their prevalence and study factors associated with the decision in a cohort of patients affected with a rare genetic disorder in a Spanish Hospital. Finally, we re-examine the presence of previously non reported family history in positive cases. We retrospectively reviewed informed consent choices and SF results from 824 unrelated probands affected with rare genetic disorders who underwent whole-genome or exome sequencing. Ninety percent of

SUBMITTER: Codina-Sola M 

PROVIDER: S-EPMC9905470 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature