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

Douglas K. Rex, MD, MASGE reviewing Guzauskas GF, et al. Ann Intern Med 2023 May.

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.


The authors cautioned that a policy analysis should be conducted before implementation, considering such factors as budget impact, genetic counselor availability, longitudinal follow-up in primary care, and input from clinical guidelines and “reimbursement policymakers.” Gastroenterologists should be aware that population-based testing at age 30 for Lynch syndrome has been found cost-effective and may be endorsed and implemented if testing costs are low and people with pathogenic variants have access to preventive interventions.

Douglas K. Rex, MD, MASGE

Bio and Disclosures


Guzauskas GF, Garbett S, Zhou Z, et al. Population genomic screening for three common hereditary conditions: a cost-effectiveness analysis. Ann Intern Med 2023;176:585-595. (