Geisinger MyCode Enrollment Hits 250K

Geisinger MyCode Enrollment Hits 250K
Different family types, sexual orientation and society, vector seamless pattern

Geisinger Health announced last week that its precision medicine project MyCode reached the milestone enrollment of 250,000 participants in Pennsylvania and New Jersey. To date, the project has both DNA sequence and health data on 145,000 of those participants and has returned medically actionable results to nearly 1,500 participants.

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

According to Geisinger, the objectives of the project encompass both broader applications in population health, as well as how to translate the data and findings into care tailored to individual participants who may have an actionable genetic variant in their genome. Activities of the project include:

  • the discovery and confirmation of new disease causing genetic variants;
  • identifying genetic changes that protect against disease;
  • use of genetic and health data for new drug development;
  • translation of knowledge acquired during the project to patient care; and
  • learning the best ways to collect and share with patients and their families medically actionable genetic findings.

The MyCode program has created a biobank of patient samples from the region and analyzes their DNA to look for genes known to increase the risk of developing 35 specific health conditions. Among these are the BRCA1 and BRCA2 genes known to increase risk for breast and ovarian cancer, genes for familial hypercholesterolemia (a causes of 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, PhD, 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.”

To date, Geisinger noted in a press release announcing the participation milestone, when given a choice, more than 90% of patients have chosen to receive their genetic 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,” Ledbetter said.

Geisinger does not have its own sequencing operation for MyCode, and has instead partnered with Tarrytown, NY, biopharma Regeneron and its Regeneron Genetic Center to completing the testing and generate each patient genetics report. Since 2014, the two collaborators have published a number of papers detailing the project and providing insights to disease identification and treatment, most within the area of coronary/cardiovascular health.

One example of the ongoing work Geisinger is conducting as part of the MyCode project is reflected in a $3.1 million grant it received from the NIH earlier this year to study sudden cardiac death. For the study, the health system accessed the the data of more than 90,000 whole-exome sequences from MyCode, with a focus on patients who had been notified of arrhythmogenic right ventricular cardiomyopathy (ARVC) findings. ARVC is a degenerative heart disease that is responsible for roughly 20 percent of deaths in people under the age of 35.

“Genomic screening for ARVC offers an opportunity to identify patients at risk for sudden cardiac death prior to the presentation of symptoms,” said Christopher M. Haggerty, PhD, study PI, and assistant professor in Geisinger’s Department of Imaging Science and Innovation, in a March press release announcing the research project. “With early detection, there is the potential for preventive measures. For someone at risk of sudden cardiac death, this type of ‘precision medicine’ approach could save his or her life.”