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

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www.clinicalomics.com November/December 2018 Clinical OMICs 9 that will be leveraged by this kind of program. That's just my prediction." The Baylor-Hopkins consortium has retained DNAnexus to serve as its primary portal for communication and data sharing for its Baylor-Hopkins All of Us Portal. DNAnexus specializes in information technologies geared for precision medicine. The company's platform for analysis, management, and publication of large-scale genomics data has been inte- grated into genomics platforms that include precisionFDA, the UK Biobank Portal, St. Jude Cloud, and the NIH Elec- tronic Medical Records and Genomics (eMERGE) Network. "DNAnexus and the Baylor HGSC have a long history of collaboration and this experience will be leveraged to expedite the launch of the portal," DNAnexus CEO Rich- ard Daly said. "Given this, and the fact that both Baylor and JHU are fully CAP/CLIA certified, data generation and analysis will commence as soon as samples arrive from the All of Us Biobank." During the first year, Daly said, BCL data output from sequencing the All of Us participants will be converted to CRAM, followed by variant calling, harmonization, batch QC, report generation, and storage and transfer of the resulting data to the DRC. "We expect 7,000 WGS [whole-genome sequencing assays] and 50,000 genotypes to be our portion in year 1," Daly added. In the Broad-Color-LMM partnership, the Broad's Genom- ics Platform will provide clinical-grade genetic sequencing and genotyping of participant samples at its CLIA-licensed, CAP-accredited Clinical Research Sequencing laboratory. Color will analyze, interpret, and report results from the genomic data sequenced at Broad, as well as offer pharma- cogenomic results, while working with Partners LMM to study the most challenging genomic variants. "This partnership allows us to collect, analyze, and share important health information with people—including par- ticipants, clinicians, and researchers—at a scale and level of clarity that has never been possible before, all while respecting participant confidentiality and privacy," said Heidi L. Rehm, Ph.D., medical director of the Broad's Clin- ical Research Sequencing Platform and a faculty member at the Center for Genomic Medicine at Massachusetts General Hospital (MGH), where she is also the Chief Genomics Offi- cer in the Department of Medicine. "The sequencing cen- ters will not directly participate in recruitment, though we anticipate that the return of results from geno- typing and whole genome sequence will better engage participants and show value for their participation." Genome center awardees were selected based on their track record of generating genomic data at scale, providing clinical validation services to verify medically relevant variants and participating in large-scale research collaborations, the NIH said. Award designation periods may extend up to five years, based on progress and the availability of funds. The genome centers are expected to generate and analyze genotype data from 100,000 participants in the first year, and ramp up to 200,000 participants in later years. The cen- ters are also expected to carry out more than 10,000 whole- genome sequencing assays in year 1, and depending on their goals, scale up to between 50,000 and 200,000 in years 3–5. In addition to producing genome data for researchers, the (continued on next page) "This partnership allows us to collect, analyze, and share important health information with people—including participants, clinicians, and researchers—at a scale and level of clarity that has never been possible before, all while respecting participant confidentiality and privacy." —Heidi Rehm, Ph.D., The Broad Institute Martin Barraud / Getty Images

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