Bringing Together Genomics and Patient Data in the Cloud

Please join us Tuesday, February 7, at 10am PT (1pm ET) to hear leading genetics expert, Dr. Jeffrey Reid, Executive Director and Head of Genome Informatics at the Regeneron Genetics Center (RGC), discuss RGC’s integrated approach across genetic trait architectures and phenotypes, the underlying cloud infrastructure that makes the center’s collaboration with multiple institutions possible, and key lessons learned from RGC’s pioneering genomic sequencing study.

Webinar Details
Title: Beyond 100,000 Exomes: Insights & Lessons from Large-Scale Sequencing in the Cloud
Speaker: Jeffrey Reid, Ph.D., Executive Director, Head of Genome Informatics, Regeneron Genetics Center
Date: Tuesday, February 7, 2017
Time: 10:00 AM PT, 1:00 PM ET

Despite growing investment in biopharma research and development, the number of new drugs is not increasing. It is estimated that more than 90% of drugs that enter Phase I clinical trials fail. Among failures in Phase II clinical trials, 51% are due to lack of efficacy and 19% due to toxicity. These statistics suggest that pre-clinical models may be poor predictors of benefit, and together with data on genetically-informed development programs, indicate that human genetics data can substantially improve the likelihood of success for new therapeutics.

Regeneron has a long history of commitment to genetics-based  science, and a track record of integrating human genetics into successful development programs, delivering new medicines to patients. Therefore, the company has made substantial investment in the Regeneron Genetics Center, a cloud-based large-scale sequencing and analysis effort supporting Regeneron development programs. The RGC is a natural extension of this decades-long commitment to genetics at Regeneron, integrating large-scale, diverse data types and fostering collaboration with a wide array of stakeholders, including biopharma, healthcare providers, research institutes, and patient advocacy groups.

The Regeneron Genetics Center has sequenced more than 120,000 people so far, and has created one of the world’s most comprehensive genetics databases pairing sequence data and de-identified electronic health records. The RGC research program involves trait architectures and phenotype collaboration across a network of more than 30 research and healthcare provider institutions. Securely and easily sharing data and tools at scale with so many partners is a major challenge. In order to enable frictionless collaboration across these disparate labs, Regeneron selected DNAnexus to provide the cloud-based bioinformatics platform necessary to securely share large-scale sequencing data and tools.

In this presentation Dr. Reid will explain the RGC vision for genetics-driven drug development, describe the automation and uniquely enabling infrastructure of the RGC, and discuss in detail some of the informatics innovations and early biological insights that have already come out of the RGC’s collaborative efforts.

Leading Genome Research Center Migrates to DNAnexus on Azure

DNAnexus on Microsoft AzureToday we announced that the trusted DNAnexus genome informatics and data management platform is now also available on Microsoft Azure, Microsoft’s open, flexible, enterprise-grade cloud computing platform. Leveraging Azure, DNAnexus provides organizations a single, secure, scalable, and collaborative platform to accelerate the application of genomics within healthcare and research. The Stanford Center for Genomics and Personalized Medicine (SCGPM) is the first organization to access DNAnexus on Azure.

scgpmA key advantage to conducting genomic research in the cloud is the enhanced collaboration facilitated by data accessibility, consistency, and scalability. SCGPM researchers already have existing collaborations on the DNAnexus Platform hosted by Amazon Web Services, by extending adoption of DNAnexus on Azure means that researchers can collaborate even more widely. By leveraging DNAnexus on Azure’s powerful data-handling capabilities, a distributed network of scientists and researchers have secure access to terabytes of data through a common user interface.

DNAnexus and Microsoft are both valued partners to Stanford’s core sequencing facility. SCGPM and David Heckerman, distinguished scientist and director of Microsoft Genomics, have been in close collaboration for years. By extending the DNAnexus Platform to Azure, it is now easier for SCGPM researchers to work closely with David’s team. We believe we are just seeing the tip of the iceberg in terms of the potential for medical discovery.

DNAnexus is proud to support SCGPM on its mission to translate genomics into patient-centered medicine, and we look forward to enabling the discoveries that unfold.


DNAnexus on Microsoft AzureInnovation Through Collaboration

Through additional partnerships, Microsoft recently developed computational methods to accelerate the best practices pipeline for genome resequencing sevenfold. By improving the efficiency of the Burrows-Wheeler Aligner (BWA) and Genome Analysis Toolkit (GATK), researchers and medical professionals are able to get actionable results in just four hours, compared to the previous twenty-eight. This is critical for medical professionals to accelerate diagnosis and treatment for patients.

Genomic sequencing and analysis has become a key component of the diagnosis and treatment of cancer and other genetic conditions. This effort has both relied on and stimulated innovative technologies. At DNAnexus, we firmly believe that in order to continue innovating and further break down the technical barriers to disease, community collaboration is essential. The sharing of data and ideas between organizations – and even industries – spurs the innovation critical to medical breakthroughs. Microsoft is a global leader in technological innovation, and by partnering with leading research centers, universities, and the private sector, it is poised to make great contributions to the genomics revolution.

The DNAnexus Platform sits at the forefront of cloud-based data security, compliance, and controlled access. By co-developing with DNAnexus, Microsoft will be able to deploy their tools into an investigative environment while leveraging extensive research experience. We are excited to be collaborating with Microsoft and to offer these cutting-edge bioinformatics tools available to the genomics community via the DNAnexus Platform in the future.

Facilitating Collaboration on DNAnexus

The need for enhanced collaboration is a trend in the genomics industry we have been following for a while. DNAnexus equips end-users with out-of-the-box clinical compliance and streamlines communication between healthcare providers, reducing information silos for more efficient collaboration.

However, this notion of partnership goes deeper than groups of scientists working together to parse through datasets. Innovation and exploration are best served through collaboration, thus successful innovation in the genomics industry also relies on disparate industries working together towards a common goal. By tapping into the genomics network, the community is able to learn from each other to advance research, leading to accelerated medicine and tailored patient care.

DNAnexus is excited about the opportunity to partner with Microsoft, given their commitment to advancing the field of genomics, and their depth and breadth of experience offering solutions to the healthcare industry.

The U.S. Cancer Moonshot and a Culture of Collaboration

Yesterday, United States Vice President Joe Biden hosted the National Cancer Moonshot Summit. Scientists, oncologists, donors, and patients convened for a daylong conference intended to pick up the pace of research towards curing cancer. Rather than focusing on one specific type of cancer, the conference broadly discussed more than 100 types of cancer; emphasizing strategies for prevention, early detection, wide access to treatment, and encouraging collaboration among researchers. You can read a first-hand account from our CMO, David Shaywitz, here.

As part of the Moonshot effort, DNAnexus, in partnership with PatientCrossroads, has committed to develop the Integrated Data Engagement Analytics (IDEA) platform to facilitate the collection, analysis, and sharing of genetic, proteomic, and EMR/phenotypic data to accelerate disease research. PatientCrossroads and DNAnexus are currently engaging in a pioneering effort to help patients obtain the raw genetic files and medical records and then integrate these data along with patient reported outcomes data obtained by PatientCrossroads on a secure and compliant platform that allows authorized researcher access to this information and use it to develop novel insights — the IDEA platform. You can review the complete list of public and private sector Cancer Moonshot commitments announced in the White House press release.

Here at DNAnexus, we are particularly devoted to reducing the technical barriers to accessing and working with research datasets.  We believe that a culture of openness in genomic research will lead to greater medical breakthroughs. Most data sharing in cancer genomics research has been centralized through rich, yet controlled-access databases like The Cancer Genome Atlas (TCGA) or International Cancer Genome Consortium (ICGC) — both of which properly approved researchers can easily access on the DNAnexus Platform. Read more about some of the genomic community collaborative initiatives DNAnexus is a part of: precisionFDA, open access cancer genomics pilot, and ICGC.