Geisinger genomics project reaches enrollment milestone

Geisinger’s MyCode Community Health Initiative reached a major milestone in 2024: enrolling more than 350,000 Geisinger patients. With paired DNA sequence and electronic health record data for nearly 230,000 of these participants, MyCode is the largest healthcare system-based study of its kind in the United States.

Analysis of MyCode data has contributed to a number of groundbreaking discoveries over the past several years, including identifying a rare genetic variant that protects against obesity. A 2023 study showed that genomic screening is effective in identifying thyroid cancer. And Geisinger researchers have received major grant funding to study the impact of genomics on health using MyCode data, including studies of the genetics of opioid use disorder, developmental disorders and familial hypercholesterolemia (FH).

MyCode’s 350,000 participants are the heart of this groundbreaking study.

“None of our research discoveries or impacts on patient care would be possible without our MyCode participants,” said Christa Lese Martin, PhD, Geisinger’s chief scientific officer and principal investigator of the MyCode study. “MyCode data has allowed researchers, both here at Geisinger and at other collaborating institutions, to study the connections between genes and health to prevent disease, detect it earlier or treat it better.”

MyCode is one of the first programs of its kind to return clinically actionable genetic results to participants through its Genomic Screening and Counseling (GSC) program. When a participant enrolls in MyCode and gives a blood sample, their DNA is analyzed to look for changes in 81 genes known to increase the risk of developing more than 35 health conditions. Examples of these include the BRCA1 and BRCA2 genes known to increase risk for breast and ovarian cancer, and genes for 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, as well as several additional heart conditions, including cardiomyopathies and arrythmias. To date, more than 5,000 participants at increased risk for these potentially life-threatening conditions have received genomic risk results.

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 medical information to patients about probable genetic causes for conditions like autism, epilepsy, bipolar disorder and schizophrenia. A 2022 analysis of MyCode data showed that 1 in 100 people had a gene variant that increases risk for these disorders.

The MyCode study is also discovering new causes of disease. Some MyCode participants have gene variants that are not well understood. In these cases, the MyCode team may invite participants to enroll in callback studies to learn more about a specific gene variant and how it may be connected to a certain disease.

For more information about MyCode, visit geisinger.org/mycode.