Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders

Abstract

Purpose

Genomic screening (GS) can identify the risk of medically actionable, monogenic conditions in individuals who would otherwise not be considered for genetic testing. The yield of pathogenic variants and associated health care utilization among at-risk individuals have not been well-studied in real-world settings.

Methods

Physicians ordered GS panels for up to 167 genes. Calculations included the positive yield overall and for 81 genes on the American College of Medical Genetics and Genomics’ secondary findings list. Health care utilization and costs were analyzed using insurance claims from 12 months before and after the genetic test results.

Results

Among 50,063 individuals, 8.6% had pathogenic/likely pathogenic variants conferring monogenic risk. Relevant health care utilization was higher in individuals with positive results than in those with non-positive results. There was a small but significant increase in median cost of all-cause health care utilization post-test compared with pre-test in participants with positive ($340 vs $215, P = .02) but not negative results ($308 vs $252, P = .12).

Conclusion

These findings suggest that GS in real-world settings can identify at-risk individuals and prompt intervention without significantly increasing health care costs or utilization.