Clinical OMICS

NOV-DEC 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 42 of 47 November/December 2017 Clinical OMICs 41 current healthcare system as the criti- cal mass of health data needed to make more precise diagnoses and deliver healthcare tailored to each individual is often lacking among certain ethnic groups including, but not limited to, African Americans. Since they already serve the spectrum of metropolitan and rural populations across Amer- ica, direct volunteer sites—which can conduct the clinical component of the study after participants register online—offer a tactical advantage over HPOs for engaging these underrepre- sented populations. Sync for Science, a pilot project funded by All of Us, will allow individ- uals who register via direct volunteer sites to donate their health information to the study directly. Sharing electronic health records (EHR) is not required to participate in the program, but cou- pling EHR data with patient informa- tion from surveys to go along with their biospecimens will be valuable assets to the program, to help generate more detailed data on health and disease progression among participants over the ten-year study. Although a very low percentage (~2%) of participants have declined to share their EHRs, a larger proportion (~20%) have neither declined nor consented, and All of Us plans to redesign its digital workflow to prevent users from skipping the EHR authorization step and increase the number of patients consenting use of the data in their health records. As All of Us approaches its national launch, Wellis believes that "engage- ment will be driven by what the par- ticipant gets back—and I'm not talking about a T-shirt or a coffee mug." America is eager to learn more about its health, and the participant-driven model adopted by All of Us, which promises to share results with partici- pants, may provide the right incentive to engage patients in this landmark study. "It won't happen overnight," wrote former-President Obama, "but once again we're standing at the door- step of discovery," And All of Us is looking forward to opening its doors to the nation this spring. CHOP, Edico Genome Set Speed Record for Analysis Of 1,000 Genomes The Children's Hospital of Philadelphia (CHOP) and Edico Genome set a Guiness World Record in rapidly processing whole human genomes into data files useable by researchers for precision medicine at ASHG17 in October. Utilizing Edico Genome's DRAGEN Genome Pipe- line deployed on 1,000 Amazon EC2 F1 instances on the Amazon Web Services (AWS) Cloud, 1,000 pediatric genomes were processed in two hours and twen- ty-five minutes. "When it comes to delivering critical diagnoses to our patients, speed—com- bined with accuracy—are of the utmost importance," said Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics (CAG). "Today's speed test is a culmination of two years of collaboration between CAG and Edico Genome, including beta-testing their product in our center." The team analyzed a pediatric cohort of 1,000 whole genomes from the CAG. The samples were carefully curated to reflect the composition of the entire bio- bank and represent the most common complex disorders and rare single-gene diseases. Making use of the AWS Cloud allowed the team to simultaneously draw on the combined computing power of 1,000 field programmable gate array (FPGA) enabled Amazon EC2 F1 instances. The first direct volunteer site to begin enrolling participants, The San Diego Blood Bank, hopes to recruit 350,00 individuals from their highly diverse community.

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