By Paul Govern

If you sequence the DNA of adult research participants with respect to pathologic variants that, if found, could be expected to prompt diagnostic tests and perhaps also preventive measures, and you return that information to participants and their doctors along with preventive care recommendations, many of those found at risk will seek the relevant diagnostic or preventive services. But more than half might not be impelled to seek more services than they’re already receiving, a new study suggests.

Led by researchers at Vanderbilt University Medical Center and reported in the American Journal of Human Genetics, the study involved genotyping 16,218 research participants at 10 sites around the country. Genetic counselors at six of the sites informed 477 of the participants that they were carrying pathogenic or likely pathogenic variants for one of five diseases and conditions: arrhythmia, breast cancer, cardiomyopathy, colorectal cancer, or familial hypercholesterolemia.

The organization behind the study, the Electronic Medical Records and Genomics Network, or eMERGE, conducts research to guide the implementation of genomic medicine. It’s a national consortium organized and supported by the National Human Genome Research Institute, part of the National Institutes of Health. Since eMERGE started in 2007, VUMC has served as both a network site and the national coordinating center.

The new study was led by Josh Peterson, MD, MPH, professor of Biomedical Informatics and Medicine and leader of the national coordinating center for eMERGE, and Jodell Linder Jackson, PhD, operations director with the center.

The team matched the 477 adult participants at risk with 477 participants who tested negative for the variants. For 12 months before and 12 months after the return of genetic results, electronic health records from the eMERGE sites where participants were tested were used to track use of 73 tests and procedures that typically would be used to diagnose and intervene in the five diseases and conditions in question.

Over the 12 months prior to the return of results, approximately one-quarter of participants in both groups used one or more of the tracked tests and procedures, with 12-month costs to insurers for these services averaging around $160 per patient.

• For participants who received negative genetic results, use of the services was unchanged, statistically speaking, before and after return of results.
• Among participants counseled about their risk variants, use of one or more of the services in question increased from 26% to 44% of participants, with average 12-month costs to insurers for these services increasing from $162 to $343.

“We are seeing measurable differences in health care after return of these genomic results, both in cost and services,” Jackson said. “While about half did not receive further testing or services even after receiving actionable results, they may have previously known about and previously addressed their risks, preferred not to make changes to their health care, or were unable to afford follow-up.”

Peterson adds, “As costs for genetic screening fall and prevention strategies improve, I expect most adults will routinely be screened for a panel of genetic diseases similar to those measured for this study. Our results demonstrate the near-term incremental cost for screening for these conditions is likely to be modest. It’s also clear we’ll need systems and policies in place to help providers and patients manage these risks to improve follow-up care rates.”

Others on the study from VUMC include Ran Tao, PhD, Ni Ketut Wilmayani, Brittany City, Wei-Qi Wei, MD, PhD, and Georgia Wiesner, MD, MS. The study was supported by National Institutes of Health grants U01HG008672 and U01HG008701.