Genomics study led by VUMC researchers recognized as one of 2023’s ‘most significant’

A May 2023 study from Vanderbilt University Medical Center researchers published in the Annals of Internal Medicine examining the cost-effectiveness of testing for some hereditary cancers and hypocholesterolemia was recognized as one of the 10 “most significant” pieces of genomics research by a working group at the National Institutes of Health.

The study, led by Josh Peterson, MD, MPH, Professor of Biomedical Informatics and Medicine at VUMC, and Greg Guzauskas, PhD, at the University of Washington, examined the cost-effectiveness of testing for hereditary breast, ovarian and other cancers, Lynch syndrome and hypocholesterolemia, and found that testing beyond what is currently recommended could be cost-effective in terms of quality-adjusted life years.

Peterson, who collaborated with Professor of Health Policy John Graves, PhD, said the paper helps fill a few important gaps in the scientific literature.josh peterson, md, mph

john graves, phd

“First, it estimates cumulative lifetime benefit across a panel of genes that covers three high-evidence scenarios, whereas previous modeling efforts were limited to one scenario, and provides age guidelines for when screening would be most effective if implemented broadly,” Petersons aid.

Additionally, Peterson said the new data can help institutions and policy makers “understand how investment in genomics provides improvement in population health and in what time frame.”

The Centers for Disease Control and Prevention currently list genomic testing for these hereditary conditions as “Tier 1,” meaning they are high priority in genomic testing. Currently, the CDC recommends only testing those who have strong hereditary or family history, though other research has indicated higher prevalence in ethnically diverse populations and there are known effective preventive measures.

The researchers created a model to estimate cost-effectiveness of offering testing regardless of family history, and the study found that testing would be cost-effective if they were below $413 for patients over 30, $290 in 40-year-olds, and $166 in 50-year-olds.

Genomics and precision medicine have grown dramatically in recent years as technological advances and research have highlighted the clinical benefits of genomic testing and precision medicine, similar to cost-effective analyses to help health care leaders and policy makers understand the financial implications of these types of care for health systems and patients.

“The recognition by the Genomic Medicine Working Group (an NIH advisory group) is gratifying and highlights the importance of our collaboration with Health Policy research groups to guide national policy on genetic testing,” said Graves.