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Issue link: https://clinicalomics.epubxp.com/i/853204
www.clinicalomics.com July/August 2017 Clinical OMICs 41 from these particular genes are shared with patients and their doctors. But results from other genes can be used for research. If a potentially harmful mutation is detected in an actionable gene, it is verified by an outside lab and the patient's primary care physician (PCP) is alerted. A few days later the patient will receive a notice that there were findings from their exome analysis and an invitation to discuss these with their PCP. Patients can also meet with the Geisinger genomics group, if they would like. The decision to return some of the results from the exom analysis is part of what Faucett calls Geisinger 's commitment to being "a learning healthcare system." The company reports MyCode has already helped identify some patients with cancers and heart disease even before symptoms developed. Faucett said they are reporting findings to about 3.5% of patients, which is "more than we expected, and other biobanks are starting to find the same thing." Most recently, the group reported actionable results for more than 300 patients. Most patients do follow up. "We establish contact with 80% to 85% of indi- viduals who have findings," said Marc S. Williams, M.D., director of Geisinger 's Genomic Medicine Institute. Those that do not respond to the initial messages are sent a certified letter. "But the majority of people want to know about their results, and almost half are also interested in helping us do research." MyCode is a rich source for new genetic findings. A 2015 report published in NEJM found that particular mutations in a gene associated with cholesterol lev- els can be highly protective against coronary artery disease, a finding that could lead to a new treatment. Using the MyCode database, the study identified seven heterozygous carriers of an inactivating variant in NPC1L1 (R406X) who had no coronary artery disease compared to 1,001 patients, among 15,886 noncarriers had the condition. And there is plenty of room for MyCode to grow. The project was launched in early 2014 in collaboration with the Regeneron Genetics Center, which does the sequencing. The initial aim was to recruit 100,000 participants for over five years, but it quickly surpassed that goal and reset it to 250,000. Faucett believes part of that is because patients are highly engaged with the system. Not many of Genome.One, OneOme Partner on Personalized Whole-Genome and Health Assessment Service Genome.One and OneOme said they will partner to provide insights into individ- uals' genetic risk of disease and pharma- cogenomic responses through Australia's first whole genome and health assess- ment service. The service will combine genome sequencing provided by Austra- lian-based Genome.One and pharmacog- enomic testing using the RightMed test of U.S.-based OneOme. RightMed analyzes an individual's DNA to identify how that may affect his or her response to certain medications, such as predicting adverse drug reactions and drug effectiveness. RightMed was co-de- veloped and exclusively licensed from the Mayo Clinic, with the goal of bringing pharmacogenomics into routine clinical care. "Information from our RightMed test can help healthcare providers make pre- scriptions more personal," OneOme CEO Paul Owen said. "We believe in bringing the benefits of pharmacogenomics to everyone, and we're thrilled to be partner- ing with Genome.One to make our service available to more people than ever be- fore." Results from the genome sequenc- ing and pharmacogenomic testing will be incorporated into a comprehensive health assessment to be offered with Dar- linghurst, Australia-based Life First. The assessment is intended to provide addi- tional health and wellbeing information for a more comprehensive picture of an individual's health. (continued on next page) catenarymedia / Getty Images