DNAnexus: Powering AZ’s 2-Million Genome Translational Vision

AstraZenecaThe volume of biomedical data available for analysis is increasing at an exponential rate, yet translating this information into insight remains both a formidable challenge and a remarkable opportunity. The demonstrable success already achieved by the Regeneron Genetics Center (RGC) and Geisinger Health System in integrating genetic and phenotypic data to inform drug development and benefit patients points to the potential of this approach, and highlights what impassioned champions with a good plan and the right platform can accomplish. (RGC/Geisinger publications, powered by DNAnexus, are discussed here and here.)

The success and promise of the RGC/Geisinger collaboration has prompted an expansion of this vision – including at Regeneron itself, which, in partnership with GSK and the UK Biobank, has announced plans to analyze the genetic data of another 500,000 individuals, powered again by the DNAnexus Platform.

These studies, aimed to catalyze the discovery and development of consequential new medicines, are motivated in part by what translational scientist Robert Plenge (formerly of Merck, now at Celgene) has termed “causal human biology” – the ability to use rare, highly informative genetic variants to better understand the staggering complexity of human biology and human disease. (Plenge has discussed this concept in Science Translational Medicine, in a fantastic Timmerman Report post reprinted in his must-read Plenge Gen blog, and on the Tech Tonics podcast.)

Plenge – and the industry, more generally – is hopeful that leveraging causal human biology can help pharma companies select better targets and more intelligently prosecute them, hopefully resulting in dramatically improved success in phase 2/3 trials; the high failure rates in these expensive mid- and late-stage studies are one of the main reasons drug development is so costly.

In this context, DNAnexus is especially excited to announce today its partnership with Astrazeneca in a particularly ambitious genetics project, the AstraZeneca Centre for Genomic Research, which was established by AZ in 2016 “to transform drug discovery and development across its entire research and development pipeline.

The vision, has been nicely articulated by Menelas Pangalos, Executive Vice President, Innovative Medicines & Early Development at AstraZeneca:

“Using the power of genomics is the foundation of our ambition to develop the most innovative and impactful treatments for patients. With the advent of next generation sequencing and the increased sophistication of data analysis, the time is now right to immerse ourselves fully in the international genomics community through these pioneering collaborations and through the creation of our own genome centre. We will leverage information from up to 2 million genome sequences, including over 500,000 from our own clinical trials, to drive drug discovery and development across all our therapeutic areas. Genomics will be fundamental to our laboratory research, our clinical trials and the launch of our medicines for patients.”

The requirements of this project – including, in particular, the ability to (a) manage high volumes of genomic data in a secure and compliant fashion; (b) facilitate the integration of genetic data with other data types, and (c) enable global collaboration around these data – were a natural fit for the DNAnexus translational informatics platform.

The DNAnexus team is tremendously exciting by the opportunity to power the efforts of visionary industry leaders such as Regeneron and AstraZeneca in translating the promise of precision medicine and data analytics into discrete novel medicines that can meaningfully improve the lives of patients.

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.