Simultaneous Population-Based Testing for Specific Cancer Genes, Including Lynch Syndrome, Found Conditionally Cost-Effective

According to data, 1.5% of the U.S. population has hereditary breast and ovarian cancer syndrome (0.72%), Lynch syndrome (0.35%), or familial hypercholesterolemia (FH; 0.43%).

This study modeled population-based genomic testing for all 3 syndromes using a single (hypothetical) test in multiple hypothetical cohorts between the ages of 20 and 60 that were representative of the U.S. population. Assumptions included a $250 multigene panel test; costs for testing, such as mammography, magnetic resonance imaging, and colonoscopy; costs of treatment, such as prophylactic surgeries; the likelihood of pre-existing knowledge of a mutation; 70% likelihood that identified probands would inform at-risk family members; and 20% of informed family members would receive testing. The investigators compared the results and costs of simultaneous genomic testing to usual care.

The model found that screening 100,000 unselected 30-year-old patients prevented 45 cases of breast cancer, 8 cases of ovarian cancer, 48 cases of colorectal cancer (CRC), 9 myocardial infarctions (MIs), and 6 strokes. The model was most sensitive to the genetic testing cost, the relative risk for MI in FH probands, prior MI in FH probands, 5-year survival in breast cancer, and CRC stage at diagnosis. 

Sensitivity analyses indicated screening 30-year-olds had a 99.4% probability of being cost-effective at a $100,000 per quality-adjusted life-year threshold. The incremental cost-effectiveness ratio for screening 30-year-olds reached $100,000 at a test cost of $413. Screening at age 40 or 50 was less cost-effective.