Genomic screening reveals hidden health risks of patients

Genetic information collected through research studies like Geisinger's MyCode Community Health Initiative can provide important-and previously unknown-information to participants about their risk for disease.

In an evaluation of the MyCode study, published this week in JAMA Network Open, more than 175,000 participants were screened for medically important genetic findings, and 1 in 30 received a result. Of participants with a genetic risk for disease, more than 90 percent were unaware of their risk prior to receiving the information from the MyCode program.

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. Additionally, some patients don't have a personal or family history to bring them to clinical attention. Genomic screening offers a strategy to close these gaps and identify more at-risk patients."

Juliann Savatt, MS, CGC, co-director of the MyCode Genomic Screening and Counseling Program

To date, more than 354,000 participants have enrolled in MyCode, which studies how genes affect health and disease using participants' DNA. MyCode also looks for genetic changes that increase risk for more than 25 health conditions, like cancer and heart disease. These conditions can sometimes be prevented or found early, when they may be easier to treat.

Unlike MyCode, many large-scale biobanks do not return this information to participants, missing potential opportunities to improve care and study long-term outcomes for these participants.

"Geisinger's MyCode program was the first healthcare system-based genomic screening initiative to disclose medically actionable results to participants," said Christa Martin, Ph.D., Geisinger's chief scientific officer and principal investigator of MyCode. "Having sequenced approximately 20 percent of our patient population, MyCode is also one of the largest healthcare-based genomic screening programs. We have shown that results disclosure promotes anticipatory care, preventing disease, detecting it earlier and allowing more targeted treatment."