Screening for common genetic conditions may be cost-effective
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Key takeaways:
- A test screening for three common genetic disorders may be cost-effective in adults aged younger than 40 years.
- The test could prevent 101 cancers and 15 cardiovascular events for every 100,000 adults screened.
Population genomic screening for Lynch syndrome, familial hypercholesterolemia and hereditary breast and ovarian cancer may be cost-effective for adults aged younger than 40 years if the cost is “relatively low,” researchers reported.
In 2014, the CDC’s Office of Public Health Genomics designated tests for these three genetic disorders “as those with evidence-based guidelines and recommendations to prevent morbidity and mortality associated with genetic risk,” Gregory F. Guzauskas, MSPH, PhD, a senior research scientist in the School of Pharmacy at the University of Washington, and colleagues wrote.
According to the researchers, all three hereditary conditions are associated with a high lifetime incidence of cancer or CVD. Lynch syndrome in particular is associated with an increased risk for colorectal cancer.
However, the clinical and economic value of screening for these conditions was uncertain, Guzauskas and colleagues wrote in Annals of Internal Medicine.
To establish this value, the researchers said they compared the cost-effectiveness of genomic screening in U.S. adults aged 20 to 60 years compared with usual care, “in which persons with a high-risk family history could receive genetic or phenotypic testing based on established clinical guidelines.”
In a base-case analysis of adults aged 30 years, screening prevented 101 (95% [uncertainty interval (UI)], 77-127) cancer cases and 15 (95% UI, 4-28) cardiovascular events per 100,000 individuals, yielding an increase of 495 (95% UI, 401-775) quality-adjusted life-years (QALY) at an incremental cost of $33.9 million.
Overall, the incremental cost-effectiveness ratio (ICER) was $68,600 per QALY gained.
In a sensitivity analysis, simulations revealed that screenings in adults aged 30, 40 and 50 years had a 99.4%, 88% and 19% probability of being cost-effective at a threshold of $100,000 QALY, respectively.
Meanwhile, a threshold analysis showed the ICER “would reach $100,000 for the 30-year-old cohort if the assay cost was $413, whereas the threshold assay costs for 40- and 50-year-olds were $290 and $166, respectively,” Guzauskas and colleagues wrote.
They researchers wrote that the analysis produced strong results and supported combining cascade and population testing for first-degree family members to identify further individuals who could benefit from tests. However, they noted that there are several criteria that need to be met for screening to be cost-effective:
- the screening panel should consist of only genes and variants with strong evidence of pathogenicity;
- testing should be low cost; and
- patients at high risk should be consulted on the results, receive evidence-based recommendations and have access to care management for their risks.
“To address considerations beyond cost-effectiveness, we recommend that a policy analysis be conducted before implementation that considers factors in addition to cost-effectiveness from the health system perspective, as outlined recently in a statement on genomic screening from the American College of Medical Genetics and Genomics,” Guzauskas and colleagues wrote.
They added such an analysis “would include budgetary impact, availability of trained genetic counselors and other resources, longitudinal follow-up in primary care settings, and assessment by clinical guidelines and reimbursement policymakers.”