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Geisinger becomes the first member of Risant Health

DANVILLE, Pa. – Genomic screening to identify hemochromatosis—a disorder that causes iron levels in the body to rise to dangerous levels—encourages people with the condition to seek treatment and ongoing management, a Geisinger study found.

Hereditary hemochromatosis type 1 (HH1), caused by a change in the HFE gene, is underdiagnosed, often resulting in missed opportunities for early and consistent treatment. Without treatment, hemochromatosis can cause iron overload, a buildup of iron that can damage many parts of the body. Treatment of hemochromatosis includes regular monitoring of iron levels and removing excess iron from the body.

The Geisinger study evaluated genetic and electronic health record data for 86,601 participants enrolled in the MyCode Community Health Initiative. Of this group, 201 were found to have changes in the HFE gene, but only 28% of these had been previously diagnosed with HH1. Of those who were notified about their genetic change through MyCode, 69% proceeded with a recommended lab test, and 69% of those whose labs showed evidence of iron overload began subsequent treatment.

“Historically, people have been found to have hemochromatosis due to a personal or family history. We found that genetic screening for HFE across a healthcare population identifies underdiagnosed iron overload, encourages relevant management and offers the potential to reduce morbidity and mortality associated with iron overload,” said Juliann Savatt, MS, CGC, assistant professor and co-director of the MyCode Genomic Screening and Counseling Program at Geisinger.

The results were published Oct. 23 in JAMA Network Open

More research is needed to determine the long-term impact of genomic screening on health outcomes and cost-effectiveness for those with hemochromatosis, the study team wrote.

About Geisinger
Geisinger is among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the non-profit system generates $10 billion in annual revenues across 134 care sites - including 10 hospital campuses, and Geisinger Health Plan, with 600,000 members in commercial and government plans. The Geisinger College of Health Sciences educates more than 5,000 medical professionals annually and conducts more than 1,400 clinical research studies. With 26,000 employees, including 1,600 employed physicians, Geisinger is among Pennsylvania’s largest employers with an estimated economic impact of $14 billion to the state’s economy. On March 31, 2024, Geisinger became the first member of Risant Health, a new nonprofit charitable organization created to expand and accelerate value-based care across the country.  Learn more at or connect with us on Facebook, Instagram, LinkedIn and X.

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