Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

ABSTRACT: Despite the well-documented benefits of genome sequencing in critically ill pediatric patients, genomic testing is rarely utilized in critically ill adults, and data on its diagnostic yield and clinical implications in this population are lacking. We retrospectively analyzed whole-exome sequencing (WES) data from 365 adults ages 18-40 years with intensive care unit (ICU) admissions at the University of Pennsylvania Health System. For each participant, two medical genetics- and internal medicine-trained clinicians reviewed WES reports and patient charts for variant classification, result interpretation, and identification of genetic diagnoses related to their critical illness. We identified a diagnostic genetic variant in 24.4% of patients, with nearly half of these being unknown to patient

SUBMITTER: Gold JI 

PROVIDER: S-EPMC12414659 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature