Population Genomic Screening for Three Conditions Likely Cost-Effective

TUESDAY, May 9, 2023 (HealthDay News) -- Conducting screening tests for three common genetic disorders could be cost-effective at a population level for adults younger than 40 years of age, according to a study published online May 9 in the Annals of Internal Medicine.

Gregory F. Guzauskas, M.S.P.H., Ph.D., from the University of Washington in Seattle, and colleagues estimated the cost-effectiveness of simultaneous genomic screening for Lynch syndrome, hereditary breast and ovarian cancer syndrome, and familial hypercholesterolemia in separate age-based cohorts of racially and ethnically representative U.S. adults.

The researchers found that screening 100,000 unselected 30-year-olds resulted in 101 and 15 fewer overall cancer cases and cardiovascular events, respectively, and an increase of 495 quality-adjusted life years (QALYs) at an incremental cost of $33.9 million in the base-case analysis. Per QALY gained, the incremental cost-effectiveness ratio was $68,600. In a sensitivity analysis, screening 30-, 40-, and 50-year-old cohorts was cost-effective in 99, 88, and 19 percent of probabilistic simulations, respectively, at the threshold of $100,000 per QALY. Screening 30-, 40-, and 50-year-olds reached this threshold at test costs of $413, $290, and $166, respectively. Highly influential parameters included prevalence of variants and adherence to preventive interventions.

"Our analysis indicates that screening with a limited panel of high-evidence genes associated with three U.S. Centers for Disease Control and Prevention Tier 1 conditions is likely to be cost-effective with an appropriate test cost for U.S. adults younger than 40 years," the authors write.

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