Clinical OMICS

JAN-FEB 2018

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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www.clinicalomics.com January/February 2018 Clinical OMICs 45 into their clinical care. Some patients had cancers detected early, others learned they are at high risk for cer- tain diseases, such as heart conditions, and are being given care and advice to prevent or manage those conditions. "Our patients are incredibly positive, and over 90% agree to participate in MyCode," Ledbetter said. Stanford's Snyder said his insti- tution and others also perform this kind of screening, but on an ad hoc basis. "Most of the time, this data is not actionable," he said. "But we have made some interesting findings, including a patient at risk because of a genetic heart defect, who was treated." As genomic databases around the world grow and begin to combine their data, more such findings will be possible. From Patient Care to Research The MyCode program has not only helped improve patient care by uncovering genetic risks, it has also opened new avenues of research. For example, a March 2016 report (Dewey et al.) published in the New England Journal of Medicine using MyCode data, found that particular mutations associated with cholesterol levels can be highly protective against coronary artery disease. Patients with an E40K variant and other inactivating muta- tions in ANGPTL4 had lower levels of triglycerides, higher HDL levels, and were less likely to develop coronary artery disease. The study included data from more than 40,000 patients, about two-thirds of whom had symptoms of heart dis- eases. Subsequent animal and ear- ly-stage human studies showed that inhibiting the gene with a monoclonal antibody could have similar effects to the variant. One future aspiration, Willard said, is to be able to share the MyCode genomic data with other qualified investigators in an anonymized way. "Health data, including sequencing results, is treated with great care and attention to privacy," he said. His group will be "gathering together the right people to discuss how we might be able to share, without compromis- ing patient privacy." That kind of col- laboration, he pointed out, could lead to discovering even more actionable results and research leads. Other data from MyCode suggest the prevalence of BRCA mutations, at least in the MyCode population, is double what has been published in the medical literature. Many of the patients who were identified as carry- ing this mutation did not know they were at any risk. Keeping It In-House A unique advantage for Geisinger is it has operated as a fully integrated healthcare system for more than 25 years. "At Geisinger, everyone has the same incentives and goals," Ledbet- ter explained. The system's patients typically receive most of their care from providers who are employed by Geisinger and many have been using the health system for a long time. The fact that a large of these patients are insured by the health system is also a plus, since cost savings from prevent- ing health problems for these patients go straight to the health plan's bot- tom line. "Cost is always a consideration, even though the cost has gone down considerably," noted Snyder. That raises the question of who will pay for the sequencing and analysis. "I've heard clinicians say that once sequencing is down to $300 per patient, they will use it," reported Ledbetter. Still, he emphasized they must demonstrate cost savings in areas such as early cancer and heart disease detection to get more insurers to pay for sequencing. Willard is former president of the American Society of Human Genet- ics, founding director of the Duke Institute for Genome Sciences and Policy, and the 15th president of the Marine Biological Laboratory. Chair of the Geisinger Scientific Board since 2011, he will also be professor of pre- cision health and associate chief sci- entific officer at Geisinger. "I'm a big believer in disruptive innovation," he said. "Success for us is not just creating a disruptive atmosphere but also providing the mechanisms so everyone who is a part of this, from the laboratory techs through the patients, can be thor- oughly involved and get the best results possible. To date, more than 176,000 patients have agreed to provide samples and to be se- quenced as part of Geisinger Health's My Code genomic health program.

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