Becker's Hospital Review

46 CIO / HEALTH IT Data from Geisinger's biobank fuels discovery of potential liver disease treatment By Jessica Kim Cohen A team of researchers from Danville, Pa.-based Geisinger and genetic sequencing provider Regen- eron Genetics Center recently discovered a gene variant associated with a significant reduction in a patient's risk of developing chronic liver disease. The gene mutation causes a loss of function in the HSD17B13 gene, which alters the function of a liver pro- tein, according to a March 21 statement from Geisinger. The researchers found people with two copies of the variant have a lower risk of various types of liver diseas- es, including a 73 percent lower risk of alcoholic cirrho- sis of the liver and 49 percent lower risk of non-alcoholic cirrhosis. For the study, the researchers analyzed DNA sequencing data and EHR data from 46,544 Geisinger MyCode Com- munity Health Initiative participants, along with data from Dallas-based University of Texas Southwestern's Dallas Heart Study and the Philadelphia-based Penn Medicine Biobank. They also collected liver tissue samples from Geisinger's Obesity Institute. Geisinger's MyCode is a genomics and precision health program targeting patients across Pennsylvania and New Jersey. Participants donate their DNA through a blood sample for research, and consent to researchers accessing their sequenced DNA data and EHRs to study various clin- ical risk factors. To date, more than 190,000 participants have enrolled in the project. The researchers suggested their finding might help fu- ture investigators develop medicines that mimic the gene variant to reduce the risk of chronic liver diseases. Regeneron Pharmaceuticals, which runs the Regeneron Genetics Center, plans to collaborate with Alnylam Phar- maceuticals to develop RNAi therapeutics based on the gene target. "This is exciting news because it means that future ther- apies that mimic the effect of this genetic change could have the same protective effect against liver disease," said Tooraj Mirshahi, PhD, one of the researchers on the project and an associate professor in the functional and molecular genomics department at Geisinger. n Why Geisinger, Kaiser turned down grants to participate in NIH's All of Us precision medicine program By Jessica Kim Cohen D anville, Pa.-based Geisinger and Oak- land, Calif.-based Kaiser Permanente backed away from grants to participate in a National Institutes of Health precision medicine program, citing various concerns, according to a e New York Times analysis of the program. e NIH aims to obtain biological samples, genetic data and lifestyle information from more than 1 million participants for the pro- gram, called the All of Us Research Program. e program — which will serve as a national research resource to inform future precision medicine studies — has 17,000 participants enrolled as "beta testers" in a pilot phase of the initiative, which launched June 2017. e NIH plans to start recruiting partici- pants for the next phase of the program in spring 2018. It's an ambitious project, in part because the NIH aims to capture representative samples of the U.S. population, including various mi- nority groups historically underrepresented in scientific research. In 2017, the budget for the All of Us initiative hit $230 million. Congress authorized a total of $1.45 billion in federal funding toward the program during a 10-year period. However, some have begun to wonder wheth- er the program's energy and resources have been well-spent, or are potentially duplicative of smaller programs at the U.S. Department of Veterans Affairs and individual hospitals. ese programs oen move more quickly, though don't have the same focus on national represen- tation, according to e New York Times. David Ledbetter, PhD, executive vice president and chief scientific officer of Geisinger, told e New York Times the program's complexi- ty is what led the health system to give back its grant, which was worth up to $50 million during a five-year period. He noted partici- pating in All of Us included various time-con- suming conference calls and meetings. "We decided it was not the right expenditure of our time," he said. Geisinger has enrolled 180,000-plus participants in its own biobank project, e New York Times noted. Officials at Kaiser Permanente, which is also developing its own biobank, voiced sepa- rate reasons for returning its grant money. "We were not able to engage as a scientific partner," said Elizabeth McGlynn, PhD, vice president of Kaiser Permanente Research and executive director of the Kaiser Permanente Center for Effectiveness and Safety Research. "We felt increasingly that we were just being asked to give access to our members." Dr. McGlynn also questioned how feedback would be provided to participants of the program. e NIH plans to enlist genetic counselors for All of Us; however, e New York Times reported there aren't enough counselors for the program's goal of 1 mil- lion participants. "Genetic counselors are in terribly short sup- ply," she said. "We wanted to be sure we were well organized to deliver results in a way that was ethical and not scary to members." n

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