Illustration of a read out from a Sanger sequencer to demonstrate the power of genomic screening for identifying inherited conditions at an early stage.
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Results from a study led by Vanderbilt University show genomic screening for two hereditary cancers and familial hypercholesterolemia in adults under 40 years could be cost-effective.

The U.S. Centers for Disease Control and Prevention lists hereditary breast and ovarian cancer syndrome; Lynch syndrome, the most common cause of inherited colorectal cancer; and familial hypercholesterolemia (FH), where low-density lipoprotein cholesterol is abnormally high leading to increased heart disease risk, as having the most evidence to support regular screening in the general population.

If high risk for these conditions is detected early, there are lifestyle measures and treatments that can be taken that significantly reduce later disease risks. For example, statin treatment for those with FH.

Currently, testing for any of these conditions only occurs when a person has a known, high-risk family history. Although screening can be costly, it is now cheaper than ever before to do large scale clinical sequencing.

“Sequencing costs of genetic panels for these conditions have fallen to around $250, and our analysis shows the high up-front investment in genetic testing is gradually recouped with improved outcomes among people with genetic risks over their lifetimes,” said lead investigator Josh Peterson, professor of Biomedical Informatics and Medicine at Vanderbilt University Medical Center, in a press statement.

In this study, which is published in the Annals of Internal Medicine, the researchers assessed the potential cost-effectiveness of screening adults of different ages for the three genetic conditions.

They simulated a scenario that included population clinical sequencing with a restricted panel of high-evidence genetic variants, followed by cascade testing of first-degree relatives, and including preventive interventions for any individuals carrying pathogenic, high-risk mutations.

The results showed that screening in individuals aged 30 and 40 years was highly cost-effective at 99% and 88%, respectively, but this dropped off significantly in those aged 50 years where the cost-effectiveness was only 19%.

In a more in-depth analysis example, screening 100,000 30-year-olds led to 101 fewer cancer cases and 15 fewer cardiovascular events associated with these three conditions, as well as an increase of 495 quality-adjusted life-years.

This kind of testing can currently be done for around $250 per test, which would be doubled if confirmation tests are needed. The team estimated that in 30-, 40-, and 50-year-olds, the maximum test cost to maintain cost-effectiveness would be $413, $290, and $166, respectively.

“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,” said Peterson, who is also director of the Center for Precision Medicine and vice president for personalized medicine at Vanderbilt.

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