The study reports the cost-effectiveness of population genetic testing


A comprehensive cost-benefit analysis of population genetic testing has been published in Annals of Internal Medicine It concludes with a recommendation for US health policymakers to adopt routine testing of adults age 40 and younger for three genetic conditions that pose a high risk of life-threatening disease.

For US adults 20–60 years of age, the authors reported the age-based cost-effectiveness of a one-time, all-in-one virtual screening screening for hereditary breast and ovarian cancer syndrome. Lynch syndrome, which is the most common hereditary cause of colorectal cancer. and familial hypercholesterolemia, which increases levels of low-density lipoprotein cholesterol in the blood and the likelihood of developing coronary heart disease and stroke at a younger age.

The three genetic conditions have been identified by the US Centers for Disease Control and Prevention as having the most evidence to support the use of genetic testing for early detection and intervention. Testing for any of these conditions, when done at all, is currently limited to patients with a high-risk family history.

Screening adults of any age for genetic risk would be an historic step toward precision medicine, with a huge price tag. The study found that the long-term benefits are worth the cost.

Costs for sequencing genetic panels for these cases have come down to about $250, and our analysis shows that the large upfront investment in genetic testing is gradually offset by improved outcomes among people with genetic risk over their lifetime.”

Josh Peterson, MD, MPH, study leader, professor of biomedical informatics and medicine at Vanderbilt University Medical Center

With about 1.5% of the US population carrying this high risk in their genes, the current costs of screening everyone would outweigh any healthcare cost savings from improved disease prevention. In terms of total life years to be gained, in previous analyzes of the additional costs imposed by partial population screening, the team found that it would not be cost-effective for two of the cases, with the third being breast and ovarian cancer syndromes. borderline case

said Peterson, MD, director of the Center for Precision Medicine and vice president of personalized medicine at VUMC.

The quality-adjusted life year, or QALY, is a general measure that uses both quality and quantity of life gained to assess the value of medical interventions. Reflecting a common assumption in the literature, the new study defines interventions costing no more than $100,000 per QALY as cost-effective in the US context.

Based on the costs of similar tests currently on the market, the authors assumed a cost of $250 for a hypothetical all-in-one test restricted to genes highly associated with risk.

  • The researchers found that, compared with usual care, screening 100,000 people at age 30, for example, would result in 101 fewer cancer cases overall and 15 fewer cardiovascular conditions over their lifetime.
  • With a test that costs $250 -; And for positive results, the confirmation test costs another $ 250 – ; One-time screening for children between the ages of 30 and 40 was cost effective. For people over 30 years of age, for example, at $33.9 million per 100,000 population, the additional cost imposed by screening and preventive aftercare came to $68,600 per QALY acquired. However, screening 50-year-olds with a $250 test was not cost-effective, due to missed opportunities to prevent disease in older adults.
  • For people over 30, the study found that screening would still be cost-effective if the test cost $413 or less.
  • For people age 40, the cost for a single test should be $290 or less, and for those age 50, the cost should be $166 or less.

Besides focusing on population genetics, disease risk and cost of preventive interventions, the analysis considers a range of factors appropriate to entering into cost-effectiveness, from the likelihood that a positive test result will lead to testing by family members, to the likely likelihood that a positive test result will lead to testing by family members. Understanding of risk-reducing interventions such as preventive surgery (and the impact of these interventions on quality of life).

In leading the study, Peterson was joined by Gregory Guzaskas, PhD, MPH, and David Veenstra, PhD, MD, of the University of Washington in Seattle. Several researchers from Geisinger Health, based in Danville, Pennsylvania, also joined the study. Other study participants from VUMC include Sean Garbett, MS, Zilu Zhou, MPH, Jonathan Schildkraut, PhD, and John Graves, PhD. The study was supported by the National Institutes of Health (HG009694).


Journal reference:

Guzauskas, G.F., et al. (2023). Population genomic screening of three common genetic conditions. Annals of Internal Medicine.


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