After conducting a cost-benefit analysis of population genetic testing, study investigators are recommending that U.S. health policymakers adopt routine genetic testing of all adults ages 40 and under for three genetic conditions posing a high risk of life-threatening illness.
The research, published Tuesday in the journal Annals of Internal Medicine, found that the long-term benefits would be worth the costs.
For adults ages 20 to 60, the researchers report age-based cost-effectiveness of hypothetical one-time, all-in-one screening for hereditary breast and ovarian cancer syndrome; Lynch syndrome, which is the most common cause of hereditary colorectal cancer; and familial hypercholesterolemia, which increases blood levels of low-density lipoprotein cholesterol and the likelihood of heart disease and stroke at a younger age. The three genetic conditions are also designated by the U.S. Centers for Disease Control and Prevention (CDC) as having the most evidence to support genetic testing for early detection and intervention. However, testing for these conditions, when done at all, is currently limited to patients with high-risk family histories.
Sequencing costs of genetic panels for these conditions are around $250, but analysis shows the up-front investment in genetic testing is gradually recouped with improved outcomes among people with genetic risks over their lifetimes. But with 1.5% of the U.S. population carrying these higher risks in their genes, current costs for screening adults of all ages would outstrip healthcare cost savings from improved disease prevention.
The quality-adjusted life year is a generic measure using both the quality and quantity of life gained to assess the value of medical interventions. The study defines interventions costing no more than $100,000-per-quality-adjusted life year as cost-effective. Based on costs for similar tests, the researchers assumed a cost of $250 for a hypothetical all-in-one test limited to genes highly correlated with risk. They found that, compared to usual care, screening 100,000 30-year-olds, for example, would result in 101 fewer overall cancer cases and 15 fewer cardiovascular events across their lifetimes.
With a test costing $250 and, for positive results, a confirmation test costing another $250, one-time screening of 30- and 40-year-olds was cost-effective. However, screening 50-year-olds with a $250 test was not cost-effective, due to missed opportunities to prevent disease in older populations. For 30-year-olds, the study found that screening would still be cost-effective if the test cost $413 or less. For 40-year-olds, the test cost needed to be $290 or less, and for 50-year-olds, $166 or less. However, researchers believe screening adults of any age for genetic risk would be an historic step toward precision medicine, despite the price tag.
“The key lesson of the study 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,” Dr. Josh Peterson, study leader and biomedical informatics and medicine professor at Vanderbilt University Medical Center, said in a statement.