Clinical OMICS

JAN-FEB 2017

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 14 of 47 January/February 2017 Clinical OMICs 13 by the American College of Medical Genetics on gene-disease associations known to significantly increase risk, the interpretation of genetic data remains a significant barrier to adoption. Other medical centers have embarked on projects similar to DiscovEHR. Dan Roden, M.D., professor of medicine and pharmacology, director of Oates Insti- tute for Experimental Therapeutics, and principal investigator of BioVU at Van- derbilt University, used the BRCA1 gene to illustrate the barrier to adoption of genomic data. "Suppose somebody finds a BRCA1 variant and there's no fam- ily history of cancer. How seriously should they take that variant?" Dr. Roden asks. "There is no question that there are BRCA1 variants that don't confer risk. Genetics shades risk, it doesn't make it black or white." Vanderbilt created its DNA Biobank, called BioVU, almost a decade ago. With a collection of approximately 230,000 samples, "it's the largest DNA collec- tion coupled to EHRs at a single academic institution anywhere in the world," Roden states. Although focused on research and discovery, the initial impetus for BioVU came, not from a desire to identify new genetic associations, but rather from a desire to act on known ones. "I was walking to work on a beauti- ful spring day, and I thought to myself, 'you, and the field have defined many pharmacogenetics variants important for determining drug response, and yet nobody uses them,'" he recalls. It occurred to him that preemptively embedding personal genetic informa- tion into a patient's EHR could provide a realistic, if not futuristic, avenue for implementing the pharmacogenetics data he and his colleagues had collected. Vanderbilt's PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment) program has put this concept into practice by proactively embedding pharmacogenetics data into the EHRs of patients receiving care at Vanderbilt University Medical Center. Both Geisinger and Vanderbilt are pushing the envelope used to predict dis- ease risk or drug response, the future of personalized medicine will rely heavily on both the ability to interpret genetic data and to implement those conclusions in a clinical setting. EHRs will play an essential role in addressing questions of both interpretation and implementation, because, as Baras insightfully sur- mised, "this is not the future of medicine—it is the present of medicine." Parkinson's Institute and Clinical Center Develops Targeted Gene Panel with Centogene The Parkinson's Institute and Clinical Center (PICC) and genetic testing com- pany Centogene will collaborate on a project to provide genetic screening of a large cohort of Parkinson's patients in the U.S. Under this agreement, individual patients will be screened using a large, customized gene panel carefully selected to identify pathophysiologically relevant genetic variants for the development and treatment of Parkinson's disease. "This genetic screening will not only help provide actionable decisions for treating physicians, but also the knowl- edge obtained will provide further insights for pharmaceutical and biotech companies conducting research in novel treatments for this debilitating disease," said Carrolee Barlow, M.D., Ph.D., PICC CEO. The collaboration will send genetic samples to be genetically characterized at the CAP/CLIA-certified Centogen labs in Germany and genetic reports will be returned to patient's physicians. "Centogene's expertise in genetic characterization will help us to apply the right treatment for patients now, and offer them hope for the future," noted Dr. Barlow. RegeneronGenetics Ocskaymark / Getty Images

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