Geisinger Researchers Find Genomic Screening Effective in Detecting Risk for Previously Undiagnosed Conditions

August 21, 2020

SAP Partners

Results of observational study published in Genetics in Medicine.

DANVILLE, Pa. – A team of Geisinger researchers has found that genomic screening programs, like Geisinger’s MyCode Community Health Initiative, can identify previously undiagnosed individuals with an increased risk of cancer and heart disease, facilitating risk management and early cancer detection.

The research team conducted an observational study of participants enrolled in MyCode, which returns medically actionable results, including an individual’s increased genetic risk for hereditary breast and ovarian cancers, Lynch syndrome and familial hypercholesterolemia. These conditions are among those recognized by the CDC as having “tier 1” evidence for interventions that reduce morbidity and mortality in people with increased genetic risk.

The team found that 87% of study participants with a tier 1 gene variant did not have a prior diagnosis of the related condition. More than 70 percent of individuals who were notified of their genetic result then had a recommended procedure, such as a colonoscopy or lipid panel, following the notification. This evidence suggests that genomic screening programs are an effective way to identify individuals who could benefit from early intervention and risk management but have not yet been diagnosed, and encourage these individuals to take measures to reduce their risk, researchers said.

Results of the study were published in Genetics in Medicine.

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