Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.

ABSTRACT:

Background

Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services. Exome sequencing has been successfully applied in a diagnostic setting, but most clinical exome referrals are pediatric patients, with many adults with ID lacking a comprehensive genetic evaluation.

Methods

Our unique recruitment strategy involved partnering with service and education providers for individuals with ID. We performed exome sequencing and analysis, and clinical variant interpretation for each recruited family.

Results

All five families enrolled in the study opted-in for the return of genetic results. In three

SUBMITTER: Sabo A 

PROVIDER: S-EPMC7549560 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature