Clinical OMICS

NOV-DEC 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

Issue link:

Contents of this Issue


Page 11 of 51

10 Clinical OMICs November/December 2018 News centers are supposed to analyze data for genetic results to be responsibly returned to participants who are interested in receiving them. Initially, the results will include information about the American College of Medical Genetics and Genomics' ACMG 59—the set of 59 genes recognized as the most medi- cally actionable known to be associated with risk of diseases amenable to prevention or early diagnosis. The pace of clinical validation "will be approximately 3,000 assays for Year 1 and 6,000 for years after that. This is based on the frequency of ACMG variants based on pri- mary data," Brad Ozenberger, Ph.D., the Data and Research Center program director for the All of Us Research Pro- gram, stated at a May 31 informational webinar for pro- fessionals interested in responding to the Genome Centers funding announcement, according to a transcript published by the NIH. The genome centers also will return information about drug–gene interactions that hold potential for informing cli- nicians on medications that may be best suited for particu- lar conditions based on participants' genetic makeup. In the future, information about participants' ancestry and traits will be available, the NIH said. All of Us participants are asked to share health and lifestyle information, including online surveys, data from electronic health records (EHRs), and blood and urine samples—all of which, the NIH has said, will continue to be collected over the course of the program. To date, more than 110,000 peo- ple have registered with All of Us, and more than 60,000 have completed all elements of the core protocol, according to the NIH. Over time, participants are expected to continue sharing information through additional surveys, biosam- ples, fitness trackers, and more. The de-identified data will be accessible to researchers, with the goal of developing tailored treatments and preven- tion strategies. The NIH has also committed to providing participants access to their data responsibly, saying that All of Us will announce it is soliciting proposals for agency funding for genetic counseling resources later this year. The NIH has committed All of Us to becoming the nation's largest and most diverse research cohort, with plans to "oversample" communities underrepresented in research in the past. "Our goal ultimately is to have 70% to 75% of the 1 mil- lion participants be in the underrepresented in biomedical research category; however, this may be reevaluated in the future," Joni L. Rutter, Ph.D., the director of scientific pro- grams for the All of Us Research Program, stated during the NIH webinar. Briggs said the designation as an All of Us Genome Cen- ter will build on HGSC's two decades of advancing genomic research and precision medicine. Founded in 1996 as one of six pilot programs for the final phases of the Human Genome Project, HGSC focuses on deciphering the genetics of common complex diseases, integrating omics data into genetic analyses, and devel- oping new technologies and applications. Baylor, which likes to call itself the "cradle of precision medicine," is a pioneer of comprehensive clinical genome testing in pedi- atric patients. "When a child comes in with a suspected genetic disorder, very often we'll sequence them, and we'll discover that the cause of their genetic disorder is a new gene that we only found a year ago. So, there's a very quick cycle between the discovery and the research. And the children that we can't solve in the clinical lab, we very often consent them for research, so they help drive the discovery," Briggs said. "Now that's the paradigm we want in adult medicine. "What will the Baylor-Hopkins Clinical Genomics Center do at Baylor? It will help accelerate that transition of the par- adigm we built in childhood disease into adult disease." (continued from previous page) Richard Gibbs, Ph.D., founding director of the Human Genome Sequenc- ing Center (HSGC) at Baylor and principal investigator of the Baylor-Hop- kins Clinical Genomics Center, will bring his deep experience that began with his work on the Human Genome Project to the All of Us research program.

Articles in this issue

Links on this page

Archives of this issue

view archives of Clinical OMICS - NOV-DEC 2018