MOUNTAIN VIEW, Calif.--(EON: Enhanced Online News)--DNAnexus Inc., the global leader in genome informatics and data management, today announced that its cloud-based translational medicine platform was utilized in two important studies reporting data from the DiscovEHR collaboration between Geisinger Health System (GHS) and the Regeneron Genetics Center (RGC). These large-scale studies, which were published today in the journal Science, combined genomic data with electronic health records of more than 50,000 people and highlight the clinical and research value of integrating genetic and phenotypic data.
“Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study”
“The idea of integrating genetic and phenotypic data to advance science and help patients has found palpable expression in the DiscovEHR program, powered by the DNAnexus translational medicine platform,” said David A. Shaywitz, MD, PhD, chief medical officer of DNAnexus. “It’s thrilling to see what can be accomplished when audacious champions commit their organizations to ambitious goals, and we’re privileged at DNAnexus to provide the platform capabilities that enable the vision to be implemented, science to be advanced, and improved care to be delivered.”
Next-generation sequencing technologies have reduced the cost and increased the speed of DNA sequencing to the point where genome informatics is often the bottleneck. To address this issue, the DNAnexus translational medicine platform allows the RGC to analyze a massive volume of raw sequencing data rapidly and economically, enabling the processing of samples from more than 1,000 patients per week and the sharing of data easily and safely with collaborators such as GHS. The platform also provides a secure environment where genetic data can be combined with de-identified clinical data, paving the way for novel scientific insights.
“These studies are a powerful example of how the DNAnexus platform is employed as the proven option at scale by organizations and consortia globally to integrate data, enable collaboration, and accelerate discovery,” said Richard Daly, chief executive officer of DNAnexus.
Genomic data from these patients, all members of the Geisinger MyCode Community Health Initiative, have been linked to corresponding de-identified electronic health records, enabling the discovery of clinical associations supporting new and existing therapeutic targets. To date, 126,000 GHS patients have consented to participate in the MyCode initiative. Of those, 50,726 have had their exomes sequenced through the organization’s collaboration with RGC and analyzed on the DNAnexus translational platform. More than 200 patients –where disease-causing variants were found– have had results returned to them so far. These results were verified by an independent, certified lab and the results were delivered via established medical protocols. DNAnexus first deployed this secure translational platform in 2015 which enabled the combination and integrated analysis of genotypic and phenotypic data at scale.
The two publications can be accessed via the Science website:
“Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study” (DOI: 10.1126/science.aaf6814)
“Genetic identification of familial hypercholesterolemia within a single U.S. health care system” (DOI: 10.1126/science.aaf7000)
DNAnexus combines expertise in computing and bioinformatics to create the global network for genomics, operating in North America, Europe, Asia-Pacific (including China), South America, and Africa. The secure, scalable, and collaborative DNAnexus Platform helps thousands of researchers across a spectrum of industries – biopharmaceutical, bioagricultural, sequencing services, clinical diagnostics, government, and research consortia – accelerate their genomics programs globally. For more information on DNAnexus, please visit www.dnanexus.com or follow the company @DNAnexus.