Geisinger researchers find genomic screening effective in detecting risk for previously undiagnosed conditions

DANVILLE, Pa. – A team of Geisinger researchers has found that genomic screening programs, like Geisinger’s MyCode Community Health Initiative, can identify previously undiagnosed individuals with an increased risk of cancer and heart disease, facilitating risk management and early cancer detection.

The research team conducted an observational study of participants enrolled in MyCode, which returns medically actionable results, including an individual’s increased genetic risk for hereditary breast and ovarian cancers, Lynch syndrome and familial hypercholesterolemia. These conditions are among those recognized by the Centers for Disease Control and Prevention as having “tier 1” evidence for interventions that reduce morbidity and mortality in people with increased genetic risk. 

The team found that 87 percent of study participants with a tier 1 gene variant did not have a prior diagnosis of the related condition. More than 70 percent of individuals who were notified of their genetic result then had a recommended procedure, such as a colonoscopy or lipid panel, following the notification. This evidence suggests that genomic screening programs are an effective way to identify individuals who could benefit from early intervention and risk management but have not yet been diagnosed, and encourage these individuals to take measures to reduce their risk, researchers said.

Results of the study were published in Genetics in Medicine.

“This study shows that genomic screening can identify at-risk individuals more comprehensively than previous methods and start people on the path to managing that risk,” said Adam Buchanan, director of Geisinger’s Genomic Medicine Institute. “The next step is figuring out the impact genomic screening has on improving population health.”

Geisinger’s MyCode precision medicine project has enrolled more than 265,000 participants in Pennsylvania and New Jersey. With DNA sequence and health data currently available on nearly 145,000 of these participants, MyCode is the largest study of its kind in the world. 

MyCode analyzes DNA samples to look for genes known to increase the risk of developing 35 specific health conditions, including the BRCA1 and BRCA2 genes known to increase risk for breast and ovarian cancer; genes for familial hypercholesterolemia, which can cause early heart attacks and strokes; Lynch syndrome, which can cause early colon, uterine and other cancers; and several heart conditions, including cardiomyopathy and arrhythmia. In all, MyCode has returned medically actionable results to more than 1,500 patients.

For more information on MyCode or to enroll, visit geisinger.org/mycode.

About Geisinger
Geisinger is among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the nonprofit system generates $10 billion in annual revenues across 126 care sites — including 10 hospital campuses — and Geisinger Health Plan, with more than half a million members in commercial and government plans. Geisinger College of Health Sciences educates more than 5,000 medical professionals annually and conducts more than 1,400 clinical research studies. With 26,000 employees, including 1,700 employed physicians, Geisinger is among Pennsylvania’s largest employers with an estimated economic impact of $15 billion to the state’s economy. On March 31, 2024, Geisinger became the first member of Risant Health, a new nonprofit charitable organization created to expand and accelerate value-based care across the country. Learn more at geisinger.org or follow on Facebook, Instagram, LinkedIn and X.