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Screening for genetic conditions can be cost effective for adults


Researchers calculate results for routine checks, not just those with risky family history.

male health checkup: © Witoon -

© Witoon -

Routine screening for three genetic conditions is cost-effective based on quality and quantity of life measures for adults aged 40 years and younger.

Researchers examined cost effectiveness of one-time, all-in-one genomic screening of adults aged 20 to 60 years for three conditions:

  • Hereditary breast and ovarian cancer syndrome.
  • Lynch syndrome, the most common cause of hereditary colorectal cancer.
  • Familial hypercholesterolemia, which increases likelihood of stroke and heart disease at younger ages.

Current practice guidelines call for screenings in patients with high-risk family history. However, the U.S. Centers for Disease Control and Prevention has determined there is sufficient evidence to consider population-wide genetic testing for the conditions.

The study examined evidence based on the MyCode Community Health Initiative of the Geisinger health system based in Danville, Pennsylvania.

“Our data analysis on the MyCode population, including the prevalence of disease and uptake of risk-reducing interventions after disclosure of genetic results, contributed key parameter estimates for the study model,” principal investigator Jing Hao, PhD, MD, said in a news release. Hao is assistant professor in the Department of Population Health Sciences at Geisinger.

“The model accounts for a range of factors in sensitivity analyses and indicates that the cost-effectiveness of population genomic screening can be further improved with optimized real-world implementation leading to better disease management,” Hao said.

To evaluate medical interventions, researchers analyzed quality-adjusted life-years (QALY), a measure of quality and quantity of life gained. The study used the benchmark of interventions costing no more than $100,000 per QALY.

Using a baseline of $250 for a genetic test – and another $250 test to confirm positive results – the study found that one-time screening of adults aged 40 years and younger was cost-effective, the news release said.

For example, among 30-year-olds, the incremental cost of adopting routine screening came to $68,600 per QALY gained. For this group, screening would be cost-effective at the $100,000 per QALY threshold if the test cost $413 or less. For 40-year-olds, the cost of a single test would need to be $290 or less, and for 50-year-olds, the cost would need to be $166 or less to be cost-effective, according to the study.

“Population Genomic Screening for Three Common Hereditary Conditions: A Cost-Effectiveness Analysis” was published May 9 in Annals of Internal Medicine.

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