The MyCode Community Health Initiative was one of the first programs to return clinically actionable results to patient-participants through its Genomic Screening and Counseling (GSC) Program, pioneered by Amy Sturm, M.S., and Adam Buchanan, M.S., M.P.H., of Geisinger’s Genomic Medicine Institute. To date, more than 3,100 participants who are at increased risk for potentially life-threatening conditions like hereditary breast and colon cancers, familial hypercholesterolemia and heart disease, have received genomic risk results. These results allow patients to work with their care providers to prevent or detect disease in its early stages, potentially leading to better health outcomes.
“Providing these clinically actionable results to our patients empowers them to take action that may lead to better health outcomes for both themselves and their families,” said Christa Lese Martin, Ph.D., Geisinger’s chief scientific officer. “The continued growth of the MyCode program not only benefits patients, it also provides crucial information to discover new genetic links to disease.”
As part of the MyCode GSC program, DNA samples are analyzed to look for changes in genes known to increase the risk of developing more than 30 specific health conditions. These include the BRCA1 and BRCA2 genes known to increase risk for breast and ovarian cancer, and genes for familial hypercholesterolemia (FH), which can cause early heart attacks and strokes. The GSC program also returns genomic risk results for Lynch syndrome, which can cause early colon, uterine and other cancers, and several additional heart conditions, including cardiomyopathies and arrythmias.
The project has also explored the return of clinically relevant results for other medical conditions, such as neurodevelopmental and psychiatric disorders. While not always clinically actionable, learning these results can provide valuable information to patients about probable genetic causes for their neurodevelopmental and psychiatric conditions like autism, epilepsy, bipolar disorder and schizophrenia.
Analysis of MyCode data has contributed to a number of groundbreaking discoveries, including a rare genetic variant that protects against obesity. Geisinger researchers have recently received several grants to study the impact of genomics on health, including a study of the genetics of cancer, improvements in the diagnosis of FH, and development of a tool to diagnose genetic disorders in real time.
For more information about MyCode, visit geisinger.org/mycode.