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Combined Genetic Test for Three Common Hereditary Conditions is Cost Effective for Young Adults

NEW YORK — In a new cost-benefit analysis, researchers have estimated that an all-in-one genetic screening test of three common hereditary conditions — Lynch syndrome, hereditary breast and ovarian cancer, and familial hypercholesterolemia — is likely to be cost effective for Americans under 40 years.

However, the findings hold true only if testing cost is relatively low (around $250) and people have access to preventive interventions.

The main reason for undertaking this study was to ascertain the economic value of screening for these conditions in the general population, according to the authors. Previous studies had indicated that screening for these diseases individually was not financially viable.

All of the three genetic conditions induce early-onset disease that substantially shortens life expectancy and decreases quality of life.

Lynch syndrome is the most common cause of hereditary colorectal cancer whereas familial hypercholesterolemia increases blood levels of low-density lipoprotein cholesterol and the likelihood of coronary heart disease and stroke at a younger age. 

For this study, published in Annals of Internal Medicine on Tuesday, a team led by researchers at Vanderbilt University developed a model that used information about cost of screening, follow-up care, and preventing and treating the diseases from previously published studies. Their analysis included multiple cohorts aged 20 to 60 that reflect the current US population, and the researchers worked with the assumption that patients had access to follow-up testing and treatment if they were identified as high risk.

The findings showed that if the genetic test cost $250 and the confirmation test cost another $250 — assumptions made based in part on similar currently available genomic tests — then one-time screening of 30- and 40-year-olds was cost effective. However, screening 50-year-olds was not. For the test to be cost effective in adults over 50, the screening test would need to be $166 or less, the authors said.

"The key lesson is that we should be bundling genetic disorders into the same screening plan and testing individuals in advance while they are young adults and prior to any disease onset," corresponding author Josh Peterson, professor of biomedical informatics and medicine at Vanderbilt University Medical Center, said in a statement.

The researchers also found that for every 100,000 individuals screened with genomic testing, 101 cancers and 15 cardiovascular events were prevented compared to testing based on family history alone, which translated to a cumulative 495 quality-of-life-adjusted years of additional survival at an incremental cost of $33.9 million.

Although these results show the cost advantage of combined screening for three diseases, the authors cautioned that the screening panel should include only genes and variants with strong evidence of pathogenicity.

Highlighting the study's limitations, the authors said that much of the data used to develop the model were based on studies on populations of European descent and may not apply as precisely to other groups.

"To address these gaps in the future our model results will be recalculated as more data from diverse populations are generated," the authors wrote.