At Bio-IT World: Promoting Technological Innovation to Advance Precision Medicine

We are excited to join the 3,000+ researchers, clinicians, and pharmaceutical and IT professionals attending the Bio-IT World Conference in Boston next week. The DNAnexus team will be onsite and headquartered in booth #316, please stop by to learn how DNAnexus helps improve secondary analysis, facilitates collaboration, and provides a scalable and secure platform for genomic research. Register here to attend the conference.

A highlight of the event every year is the Bio-IT World Best Practices Awards. This prestigious award highlights outstanding examples of how technological innovation can be powerful forces of change in the life sciences. This year, our partner M2Gen is a Best Practices Award finalist!

M2Gen has partnered with 15 of the nation’s leading cancer centers via the Oncology Research Information Exchange Network (ORIEN) to deliver informatics-based solutions to accelerate therapy discovery and development. The DNAnexus cloud platform supports molecular data access, management, collaboration, and analysis for ORIEN. This cloud-based approach creates value for all stakeholders, impacting the point-of-care and driving basic cancer research in both academic centers and industry. The multiple categories of the Best Practices Awards will be announced live during the plenary session on Thursday May 25th.

Dr. Hongyue Dai, PhD, CSO of M2Gen, will be in the DNAnexus booth to answer questions and showcase M2Gen’s innovative cancer data network. Come by booth 316 at 10:00am ET on Thursday to learn more.

We will also be showcasing projects with our clinical and software partners. See our full list of activities below. Can’t make it to one of our events? Stop by booth 316 anytime during the conference, or email us to schedule a meeting with a member of our team.

Scaling the World’s Fastest Clinical Genomic Pipeline for Critical Care in Pediatrics
Narayanan Veeraraghavan, PhD, Director of IT, Rady Children’s Institute for Genomic Medicine
Wednesday, May 24, 10:00am-10:30am
DNAnexus Booth #316

Genomic Solutions in Microsoft Azure
Singer Ma, Scientific Operations Director, DNAnexus

Wednesday, May 24th, 2:30pm-3:00pm

Microsoft Booth #529

Rapid Variant Discovery with Sentieon
Brendan Gallagher, Business Development, Sentieon
Wednesday May 24, 3:30pm – 4:00pm
DNAnexus Booth #316

Meet & Greet with M2Gen
Hongyue Dai, PhD, Chief Scientific Officer, M2Gen

Thursday May 25, 10:00am-10:30am

DNAnexus Booth #316

Rady Children’s Quest to Finding That Needle in a Haystack

Rady Children’s Institute for Genomic Medicine (RCIGM), located in San Diego, has announced a pioneering effort to deliver life-changing genetic diagnoses for children suffering from rare diseases. Led by president and CEO, Dr. Stephen Kingsmore, Rady is building an end-to-end clinical whole genome data analysis solution, built on the DNAnexus Platform, for children’s hospitals nationally.

The impact of diagnosis by WGS is often life changing. The team routinely tests critically ill children for over 5,000 diseases, of which more than 500 have highly effective treatments. For example, if the test reveals a mutation in a gene involved in digestion, causing the inability to process a particular nutrient thereby leading to buildup of a poisonous byproduct, a simple change in diet can limit the effects of the disease. The sooner this condition can be diagnosed the less damage the child will suffer. In these cases, minutes literally matter.

Dr. Kingsmore’s vision is to ensure genome-powered diagnosis is accessible to every child who needs it. Building a world-class pipeline at a single hospital isn’t enough. RCIGM needed a solution that could scale and be deployed at institutions around the world. DNAnexus provides the technology and expertise that allows RCIGM to grow an innovative pediatric-focused genomics network, distribute its clinical tools and collaborate with colleagues in a secure and compliant environment.

This work was done as part of RCIGM’s collaboration with the The Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) program. NSIGHT addresses how genomic sequencing can replicate or augment known screening results for newborn disorders, what knowledge sequencing can provide for conditions not currently screened, and what additional clinical information could be learned from sequencing relevant to the clinical care of newborns. The NSIGHT program is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), components of the National Institutes of Health.

DNAnexus provides a flexible platform that connects Edico Genome’s ultra-fast variant calling algorithms with Fabric Genomics’ interpretation software, and integrates seamlessly with Rady Children’s custom data interpretation portal. Users monitor jobs, organize and share data, and compare patients’ data to a diagnostic resource within the network. At DNAnexus, we are proud to support Dr. Kingsmore and RCGIM’s endeavor to prevent, diagnose, and treat childhood diseases through genomics research.

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.