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CHOICE Team Co-Authors Study Supporting Routine Genomic Testing for Young Adults

Researchers from The Comparative Effectiveness, Policy & Economics (CHOICE) Institute in the Department of Pharmacy recently published a simulation modeling study in Annals of Internal Medicine that urges U.S. health policymakers to consider routine genomic testing of all adults aged 40 and younger for three genetic conditions posing high risk of devastating illness.

According to co-Principal Investigator and Professor David Veenstra, beginning to routinely screen young adults for genetic risks would be a historic step toward precision medicine.

“While these conditions are relatively rare, affecting about 1.5% of the population, affected individuals have very high risk of developing future disease and should be offered the effective preventative interventions that are available,” he said.

In addition to Veenstra, The CHOICE Institute team consisted of first author and Senior Scientist Gregory Guzauskas, MSPH, PhD; and PhD student Shangqing (Joyce) Jiang, MPH. They were joined by collaborators led by Josh Peterson, MD, MPH, Professor of Biomedical Informatics and Medicine at Vanderbilt University Medical Center; and Jing Hao, PhD, MD, MS, MPH from Geisinger Health, headquartered in Danville, Pennsylvania.

The team reported age-based cost-effectiveness of hypothetical one-time, all-in-one screening of U.S. adults aged 20 to 60 for three conditions: 1) hereditary breast and ovarian cancer syndrome, 2) Lynch syndrome (the most common cause of hereditary colorectal cancer), and 3) familial hypercholesterolemia, which increases blood levels of low-density lipoprotein (LDL) cholesterol and the likelihood of coronary heart disease and stroke at a younger age.

These three genetic conditions are designated by the U.S. Centers for Disease Control and Prevention as having the most evidence to support 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.

“The key lesson of the study is that we should be bundling genetic disorders into the same screening panel and testing individuals in advance while they are a young adult and prior to any disease onset,” said Peterson.

  • The researchers found that 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, a one-time screening of 20- to 40-year-olds was cost-effective, but screening older individuals was not, due to missed opportunities to prevent disease cases.

The analysis accounted for a range of factors, including the probability that a positive test result would prompt testing by family members, and the likely uptake of risk-reducing interventions such as prophylactic surgery (and the impact of these interventions on quality of life).

The study was supported by the National Institutes of Health (HG009694).


Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number HG009694. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.