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North Central PA Times

Thursday, April 3, 2025

Study highlights importance of genomic screening in identifying disease risks

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Terry Gilliland, MD President and Chief Executive Officer, Geisinger | Geisinger Community Medical Center

Terry Gilliland, MD President and Chief Executive Officer, Geisinger | Geisinger Community Medical Center

Genetic information from research studies, such as Geisinger’s MyCode Community Health Initiative, can reveal critical insights into disease risk for participants. An evaluation of the MyCode study, recently published in JAMA Network Open, involved screening over 175,000 participants for significant genetic findings. Results showed that 1 in 30 individuals received important information about their genetic risk for disease. Among these participants, more than 90 percent were previously unaware of their risk before engaging with the MyCode program.

Juliann Savatt, MS, CGC, co-director of the MyCode Genomic Screening and Counseling Program stated, “Currently, clinical genetic testing is offered based on patients’ personal and family history. However, there are limitations to this approach, as some patients with a family history don't come to clinical attention due to barriers to care.” She added that genomic screening helps close these gaps by identifying more at-risk patients who may not have a personal or family history prompting clinical attention.

The MyCode initiative has enrolled over 354,000 participants to date. It examines how genes impact health and disease through DNA analysis and seeks genetic changes linked to more than 25 health conditions such as cancer and heart disease. These conditions might be preventable or detectable early when they are easier to manage.

Unlike many large-scale biobanks that do not share this information with participants, MyCode provides results that could improve care and allow for studying long-term outcomes. Christa Martin, Ph.D., Geisinger’s chief scientific officer and principal investigator of MyCode said, “Geisinger’s MyCode program was the first healthcare system-based genomic screening initiative to disclose medically actionable results to participants.” She emphasized that disclosing results facilitates anticipatory care by preventing diseases or detecting them earlier for targeted treatment.

For further details about the MyCode program, interested parties can visit geisinger.org/mycode.

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