DNAnexus Scoops European Innovations Award at SCOPE

We’ve always been proud of our innovative technology solutions, and recently we had the opportunity to celebrate our success with our European partners at the Summit for Clinical Ops Executives (SCOPE)-Europe in Barcelona, Spain. 

Preeti McGill, EMEA Account Director, was on hand to accept DNAnexus’ European Innovations Award, sponsored by Clinical Research News. Fellow awardees included the UK’s Guys and St. Thomas’ NHS trust and Tata Consultancy Services. 

The European Innovations Awards  program seeks to recognize outstanding examples of applied strategic innovation—partnerships, deployments, and collaborations that manifestly improve the clinical trial process. 

“These awards celebrate dedication and innovation in clinical research, and the winners chosen highlight the inspiring work being done in the industry,” said Allison Proffitt, Editorial Director of Clinical Research News. “The research community in Europe is increasingly open, and the projects showcased in this year’s award program prove their dedication to excellence.” 

One project in particular, the UK Biobank Consortium Data Delivery and Cohort Browser, was noted for its contribution to the scientific community. Part of the DNAnexus Apollo Platform, the cohort browser was designed to democratize data access to the UK Biobank, which has collected and developed a biospecimen and data resource on over 500,000 individuals. 

In collaboration with a consortium of pharma companies, the Regeneron Genetics Center has undertaken the exome sequencing and analysis of all 500,000 samples, using Apollo to host the dataset and run Regeneron’s software pipeline. We partnered with Regeneron to construct a combined database of the biobank genomic and phenotypic data to explore, with an innovative “geno/pheno cohort browser” user interface that gives diverse teams the ability to browse and build cohorts among 3,000 phenotypic fields and 15,000,000 genomic variants across 100,000 samples. 

“This resource has proven valuable to pharmaceutical companies, healthcare organizations and the scientific community, and has already led to more than 170 publications revealing novel associations with important epidemiological markers,” Clinical Research News noted.  

Data leads to new discoveries

The Sept. 18 award presentation came on the heels of another announcement: a £200 million expansion of the original £34 million pilot programme. The funding — half from government sources and half from biopharmaceutical and healthcare companies (Amgen, AstraZeneca, GlaxoSmithKline and Johnson & Johnson) — will enable each of the biobank’s 500,000 samples to undergo whole genome sequencing at the Wellcome Sanger Institute in Cambridge, UK, and the deCOde site in Iceland. 

“Today’s funding will support one of the world’s most ambitious gene sequencing programmes ever undertaken,” said UK Business Secretary Andrea Leadsom. “Its results could transform the field of genetic repeated research – unlocking the causes of some of the most terrible diseases and how we can best tackle them. It will be a major step forward for individually tailored treatment plans, and will help us better understand why some people get certain diseases while others don’t.”

Data from Regeneron’s exome sequencing efforts have already led to several scientific discoveries. One of the discoveries has been a better understanding of Type 1 diabetes. This is the most common form of diabetes in children, which has led to it being called ‘juvenile diabetes’. However, a study using information from UK Biobank revealed that type 1 diabetes is almost as common in adults as it is in children. This hasn’t been recognized previously because so many adults have a different kind of diabetes. Another study also shed light on the effect of diabetes on the heart. 

Scientists in Australia used the data to examine the prevalence of inbreeding in the UK (~13,200 people born to extreme inbreeding), and scientists at the Broad Institute used it to explore whether there are any genetic links involved in same-sex partnerships. Another team of researchers used both sequencing and imaging data from the UK Biobank to characterize the brain signature and genetic basis of left-handedness. 

“I am incredibly excited by the potential of genomics to change the way we think about disease and healthcare,” said UK Health and Social Care Secretary Matt Hancock. “In an ageing society with an increasing burden of chronic diseases, it is vital that we diagnose earlier, personalise treatment and where possible prevent diseases from occurring altogether. This project will help unlock new treatments and grow our understanding of how genetics affects our risk of disease.”

Researchers interested in applying for access to UK Biobank data should visit http://www.ukbiobank.ac.uk/register-apply/.

For more information about the UK Biobank Cohort Browser, visit https://www.dnanexus.com/product-overview/apollo/apollo-for-ukb

Why Medical Centers Should Prioritize HITRUST in Cloud Providers

As medical centers have moved their operations and data from local infrastructure to the cloud, their ability to directly secure data has decreased. This change in security landscape makes it challenging for medical centers when they need to assess third-party vendors to ensure data is handled in a secure and compliant manner. One of the preferred methods is for providers and vendors to adopt the Health Information Trust Alliance (HITRUST) Certification standard as a way to streamline the vetting process. From a provider’s standpoint, that process saves substantial resources.

In August 2019, DNAnexus announced that its cloud-based genomics platform earned Certified status for information security by HITRUST.  As the first and currently only genome informatics platform to receive HITRUST CSF Certification, this certification further establishes DNAnexus as an industry leader with a demonstrated commitment to protecting the privacy of its healthcare clients patients’ confidential information.

The University of Pittsburgh Medical Center (UPMC), a world-renowned health care provider and insurer, has moved many of their applications and data services to the cloud via the DNAnexus Platform. As a result, UPMC requires vendors to become HITRUST certified so that can more effectively manage information risk and know that all organizational and patient data will remain protected.

UPMC is at the forefront of security and compliance standards. In the future, we predict more medical centers will require vendors to be HITRUST Certified as it streamlines the assessment process. With the DNAnexus Platform, UPMC’s entire network is given the ability to analyze hundreds of thousands of samples efficiently and share data and tools with collaborators – all while maintaining peace of mind that their patients’ data is being handled with the greatest level of care and confidentiality.

“Our customers require that our genome informatics platform protects the privacy and security of their patients’ confidential data,” said E. Loren Buhle, Jr. PhD, Vice President of Security, Quality and Compliance at DNAnexus.  “Becoming HITRUST CSF Certified is another important milestone in becoming the industry leader in data security and protecting ePHI. We now have earned certifications from HITRUST, FedRAMP ‘Moderate’ Authority to Operate, ISO27001 and Privacy Shield.”

Want to learn more about how DNAnexus has met key regulations and is appropriately managing risk? Get in touch! Email us at info@dnanexus.com.

Considering an IT Investment For Your Clinical Diagnostics Lab? Help is Here

Next-generation sequencing data analysis management systems are the backbone of clinical diagnostics labs, providing vital functionality for day-to-day workings and business delivery. As a result, decisions about the tools to invest in can have far-reaching implications. 

Would it be best to improve, augment or entirely replace your existing systems? 

Which is the most resource intensive? 

Cost effective? 


These aren’t the only questions.

Other considerations include scalability and future expansion potential, flexibility, and impacts on operations and turnaround time. 

It can be overwhelming. Luckily, we’re here to help, with two new guides to help you assess your current and future needs, and how to achieve them. 

Build vs. Buy: Six Questions to Consider When Investigating Clinical Diagnostics Informatics Solutions

Feeling like a victim of your own success? As testing demand increases, so does complexity, and IT issues that were once hidden are probably starting to surface. Experiencing unplanned downtime, difficulty deploying new pipelines, and challenges in finding and accessing data? These could bottleneck future growth.

Sounds like you need a reliable system that is prepared to grow alongside you. Custom-built Cloud solutions provide scalability, security, and lots of other benefits, which we outline in this Whitepaper. We’ll walk you through the decision-making process, and point out the advantages and disadvantages of the different IT solutions.

10 Tips to Scale Your Diagnostics Business & Grow Your Test Portfolio Globally

Ready to take your business to the next level? Great! If that involves expanding your footprint, either locally or globally, things could get complicated, especially when it comes to data sharing, storage and access. Are you prepared to navigate all the data sovereignty requirements and IP protection across locations? Do you know how to control access to pipeline algorithms and sensitive health data, and to comply with regionally-specific regulations?

By bringing all production pipelines into a single, unified cloud environment, with version-controlled pipeline updates rolled out simultaneously across your locales, you can effectively manage growth. This Whitepaper lays it all out, and explain why letting experts do the heavy lifting can pay dividends.

Still not convinced? Perhaps this will help you decide: