Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 Patients.

ABSTRACT: Precision medicine increasingly relies on genetic testing for individualized care, yet the practice patterns of genetic evaluation in adults remain under-characterized and few guidelines exist to inform appropriate testing. We analyzed eight years of electronic health record (EHR)-linked data from a high-volume adult genetics clinic (>8,000 visits) within a major academic health system to define referral patterns, test utilization, and genetic testing outcomes across indications and demographic groups. Genetic testing was ordered for 52% of all new patients, with significant indication-specific variation in ordering propensity. Overall, 24% of all tests returned a diagnostic result. Diagnostic yield differed markedly by testing modality: whole-exome sequencing yielded diagnoses in 41% of p

SUBMITTER: Gold JI 

PROVIDER: S-EPMC12632655 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature