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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.


Comment:

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.

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Douglas K. Rex, MD, MASGE

Bio and Disclosures

Citation(s):

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. (https://doi.org/10.7326/m22-0846)