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Geisinger enrolls more than 250K in precision medicine initiative

More than 250,000 participants have been enrolled in Geisinger Health System’s MyCode precision medicine initiative, which the healthcare provider contends is the world’s largest study of its kind.

MyCode, the largest healthcare system-based precision medicine program, combines clinical data from electronic health records with genetic sequencing to enable the prevention or detection of early-onset cancer and cardiovascular events for patients who are at high risk for these inherited diseases.

According to Geisinger, of the more than 250,000 volunteers, DNA sequence and health data are currently available for 145,000 participants as part of the precision medicine research effort launched in 2007 by the Danville, Penn.-based provider.

“Geisinger has reached a major milestone in precision health,” says David Ledbetter, executive vice president and chief scientific officer for Geisinger and one of MyCode’s principal investigators. “This number of enrolled participants speaks to the trust that our community has in Geisinger’s expertise and the ability we have through this project to make precision health accessible to all of our patients.”

Volunteers in Pennsylvania and New Jersey have donated their DNA through a blood sample and provide their consent to allow researchers access to their genetic information and EHRs, which provides a rich data set for genomic and precision health research.

Geisinger has partnered with Regeneron Genetics Center, a biopharmaceutical company in Tarrytown, N.Y., to generate clinical reports with testing results that are put into the EHR and are provided to patients who are then offered genetic counseling about their increased risk for early onset cancer and cardiovascular disease.

“The program has returned medically actionable results to nearly 1,500 people who are at increased risk for potentially life-threatening conditions, like hereditary breast and colon cancers, familial hypercholesterolemia and heart disease,” states Geisinger’s announcement.

Overall, MyCode analyzes DNA samples to look for genes known to increase the risk of developing 35 specific health conditions.

“These include 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,” according to Geisinger.

At the same time, MyCode has uncovered several genes that can contribute to the development of cognitive disorders—such as bipolar disorder, depression, epilepsy and learning disabilities—but which are not always medically actionable.

“There are a lot of genes that have medical actionability, like finding a change in a gene that causes breast cancer and doing more frequent mammograms as a result,” says Christa Martin, associate chief scientific officer and one of the principal investigators for MyCode. “But there are other ones that might not be medically actionable but could have important implications to patients. So one of our research projects is exploring reporting information back to individuals who have certain brain conditions.”

More than 90 percent of patients with such brain conditions have responded favorably to receiving genetic test results.

“Giving these patients a unifying medical explanation for their multiple, apparently unrelated learning, behavioral and psychiatric conditions had a powerful impact on these patients and their family members,” adds Ledbetter.

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