More than 250,000 participants in Pennsylvania and New Jersey have enrolled in Geisingers groundbreaking precision medicine project, MyCode. 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.
The program has the potential to help nearly 1,500 people who are at increased risk for potentially life-threatening conditions. Results will 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, said David H. Ledbetter, Ph.D., executive vice president and chief scientific officer for Geisinger and one of the principal investigators of the MyCode study. This number of enrolled participants speaks to the trust that our community has in Geisingers expertise and the ability we have through this project to make precision health accessible to all of our patients.
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, said Christa Martin, Ph.D., associate chief scientific officer and one of the principal investigators of the MyCode study. 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 percent 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.
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, Dr. Ledbetter said.
Original post:
DNA project will aid in early disease detection - Reading Eagle
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