Clinical OMICS

JAN-FEB 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 10 of 51 January/February 2019 Clinical OMICs 9 change within research from individual projects to global teams working to analyze, integrate, and derive insights from data. Third is the need to add and improve computa- tional hardware. Data and implementation are as much challenges to preci- sion medicine as science and research, said Harry Glorikian, senior executive, board director, and consultant in the life sciences/healthcare industry. Despite claims about open data and interoperability, much of the healthcare data that exists is isolated in silos, said Glorikian, who detailed the impact of precision med- icine on patients, in his book "Moneyball Medicine: Thriv- ing in the New Data-Driven Healthcare Market." He cited a recent article by Atul Gawande, M.D., in The New Yorker detailing how increasingly complex healthcare IT has upped the workload of physicians at the expense of patients. "We need to have a reckoning about the state of healthcare IT and what we really need our IT systems to do," Glorikian said. "Keeping the data in silos isn't the answer, particularly without true interoperability or standards beyond FHIR [Fast Healthcare Interoperability Resources], but neither is an EHR that tries to do everything but fails to do any of it well." Among healthcare institutions effectively harnessing tech- nology for precision medicine, Glorikian said, is Geisinger, a health services organization serving more than 1.5 million patients in Pennsylvania and New Jersey. Geisinger 's MyCode Community Health Initia- tive has attracted more than 200,000 participants and returned actionable results to more than 1,000 patients for genetic variants that cause one or more of 25 conditions, including hereditary breast and ovarian cancers, cystic fibrosis, and cardiovascular conditions such as familial hypercholesterolemia. Mendelian Precision David H. Ledbetter, Ph.D., Geisinger executive vice presi- dent and chief scientific officer said health systems have found success in precision medicine—he prefers "precision health"—through specialization (see sidebar "At Inova, Precision Med Started with Baby Steps"). One approach emphasizes oncology, choosing the best drug based on a tumor 's genomic profile. Another approach focuses on pharmacogenomics. Geisinger focuses on inherited Mendelian single-gene diseases where there's an intervention known to improve patient outcomes. "Not everybody's interested in that group, because each disease is individually rare," Ledbetter said. "Collectively those rare diseases, we think, make up a significant minority of our healthcare population, and we can take actions to improve their outcomes and reduce mortality associated with some of these life-threatening conditions." Geisinger recently aggregated all two petabytes of its imaging data system wide, and has generated another one petabyte of genomics data from sequencing almost 100,000 Geisinger patients through its DiscovEHR collaboration with Regeneron Pharmaceuticals, launched in 2014. In May, Geisinger began offering patients DNA sequencing as part of routine clinical care. Geisinger 's staff includes some 15 M.D./Ph.D.–level research faculty, four M.D.–level medical geneticists, two lab genetics experts, and 25 genetic counselors, including Erica Ramos, president of the National Society of Genetic Counselors (NSGC), and her successor, president-elect Amy Sturm. Totaling the costs of recruiting professionals and capital investment, mainly around its biobank launched in 2007, "we've probably invested around $50 million over the period," Ledbetter said. "At the same time, we've leveraged those people and expertise and infrastructure to where we now receive exter- nal grants and contracts from NIH and other federal fund- ing of about $45 million a year. A large portion of that is related to our data resources and our genomics resources and expertise." (continued on next page) Adam Margolin, Ph.D., Icahn School of Medicine at Mount Sinai

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