Genomic sequencing identifies secondary findings in a cohort of parent study participants.

ABSTRACT:

Purpose

Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.

Methods

Exome/genome sequencing and analysis of 789 "unaffected" parents was performed.

Results

Pathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7). A limited carrier screen was performed yielding 15 variants in 48 (6.1%) parents. Parents were also an

SUBMITTER: Thompson ML 

PROVIDER: S-EPMC6185813 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature