Precision Medicine Study Enrolls More Than 250,000 Participants

December 31, 2019

Groundbreaking study provides medically actionable results to nearly 1,500 people.

Geisinger’s precision medicine project-the MyCode Community Health Initiative- has enrolled more than 250,000 participants in Pennsylvania and New Jersey, reaching a major landmark in the project. With DNA sequence and health data currently available on 145,000 of these participants, MyCode is the largest study of its kind in the world.

MyCode includes a system-wide biobank designed to store blood and other samples for research use by Geisinger and Geisinger collaborators. 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. These results allow patients to work with their care providers to prevent or detect disease in its early stages, leading to better health outcomes.

“Geisinger has reached a major milestone in precision health,” David H. Ledbetter, PhD, executive vice president and chief scientific officer for Geisinger and one of the principal investigators of the MyCode study, said in a press release. “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.” 

Related: Room For Growth In Precision Medicine Programs

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; as well as 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 arrythmia.

The project has also identified several genes that can contribute to the development of cognitive disorders. While not always medically actionable, these results can provide valuable information to patients about probable genetic causes for neuropsychiatric conditions like epilepsy, bipolar disorder and depression, as well as learning disabilities and other similar conditions. 

“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,” Christa Martin, PhD, associate chief scientific officer and one of the principal investigators of the MyCode study, said in a press release. “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.”

When given the option to receive test results that included genetic changes that could explain their brain condition, more than 90 % of patients responded in favor of receiving the results. The majority found the information personally useful to explain medical diagnoses they had been dealing with most of their lives