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Danville, Pa. -- A team of Geisinger researchers have published a new study in Genetics in Medicine based on results from the MyCode Community Health Initiative. According to the researchers, genomic screening can identify previously undiagnosed people with an increased risk of certain cancers and heart disease, making it easier to detect cancer early and helping the individuals to manage health risks.

The researchers conducted an observational study of MyCode participants, receiving medically actionable information regarding increased risks for hereditary breast and ovarian cancers, Lynch syndrome, and familial hypercholesterolemia. These conditions are identified by the CDC as having "tier 1" evidence for interventions that reduce morbidity and mortality in people who have increased genetic risk.

According to the study, 87% of participants with a tier 1 gene variant did not have a prior diagnosis of the related condition. Over 70% of patients who were informed of their screening result followed up with a recommended procedure such as a colonoscopy or lipid panel.

Based on this evidence, it appears that genomic screening is an effective way to identify individuals who can benefit from early intervention and risk management, but who would otherwise have not known about their condition.

“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 project has enrolled more than 265,000 participants in Pennsylvania and New Jersey. DNA sequence and health data is available on nearly 145,000 of the participants, making MyCode the largest study of its kind in the world.

MyCode analyzes DNA samples to look for genes that are known to increase the risk of developing 35 health conditions, including the BRCA1 and BRCA2 genes known to increase risk for breast and ovarian cancer; genes for familial hypercholesterolemia, which can cause heart attacks and strokes; Lynch syndrome, which can cause early colon, uterine, and other cancers; and several heart conditions including cardiomyopathy and arrhythmia. Over 1,500 patients have received actionable results from participating in MyCode.

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