A Retrospective Qualitative Content Analysis of Parental Perspectives of Child Disability Following Whole Genome Sequencing

Abstract

Background: Whole genome sequencing (WGS) is increasingly used to diagnose children with developmental disabilities, but little is known about how it shapes parents' perceptions of disability. Methods: This qualitative content analysis of 22 parent interviews examined shifts in medical and social model framing across pre-whole genome sequencing, immediately following receipt of results, and at the time of interview. Results: Prior to WGS, all parents framed their child's disability through concern and uncertainty. Most parents (16/22) remained consistently medical model dominant. A smaller group (6/22) showed perspectives aligned with the social model, either in the immediate post-results period or only at the time of interview. Discussion: Findings suggest that WGS may reinforce medical model framing for most families, though social model engagement emerges over time for a minority.