Adult genomic medicine: lessons from a multisite study of 2700 patients.

ABSTRACT:

Background

Clinical exome and genome sequencing has transformed the diagnostic workup of patients with genetic disorders. The extensive body of evidence supporting the application of this clinical genomics approach in pediatric patients stands in stark contrast to the relative paucity of evidence for its use in the adult population. Here, we describe the largest cohort to date of adult patients who underwent clinical exome and genome sequencing for suspected genetic diagnoses.

Methods

A total of 2763 adult patients (2529 families) from all regions of Saudi Arabia are included in this cohort (2202 exomes, and 561 genomes).

Results

The diagnostic rate is 38.9% spanning 535 Mendelian genes and revealing clinical diagnostic errors in 38% of patients with positive reports.

SUBMITTER: Bakur K 

PROVIDER: S-EPMC12477811 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature