Genomics England Develops Genomic and Health Information Platform on AWS to Turn Science into Healthcare

Through the 100,000 Genomes Project alone, GEL amassed 50 petabytes of data – about three times the size of the entire Library of Congress. Seeking to make the data accessible to the research community, GEL is in the process of migrating its data to AWS to enable democratized access.

“We knew that putting the data generated from the 100,000 Genome Project into the hands of the research community would play a vital role in accelerating scientific breakthroughs, and we’re working to migrate our data to AWS to do just that,” said Peter Sinden, GEL’s chief information officer.

To generate a more comprehensive understanding of patient genomics, the organization will integrate “long-read” genome formats alongside the current “short read” format. Long-read genomes contain around five times the data of short read and this will give researchers more information about each part of the genome they study, potentially uncovering nuances that might have gone unnoticed before.

“As we continue to progress our work and generate more robust data sets, access to elastic storage and compute services will enable our organization and the research community to access and analyze data securely and cost-effectively,” added Sinden. ”By hosting on AWS, we can democratize access to our data. All researchers need is a small budget to fund compute costs and access to a computer.”

GEL’s mission is to create a scalable and durable data infrastructure that can evolve in tune with scientific and technological advances. Security, compliance, and democratized access were integral to the research platform, and GEL selected AWS Partner Lifebit to develop the platform on the AWS. Together with AWS, they have created a Trusted Research Environment (TRE) that will allow researchers to work collaboratively and glean insights from genomic data using advanced cloud computing tools.

“Our goal is to enable the ecosystem to deliver data-driven healthcare and conduct genomic research, and AWS enables us to securely achieve this mission,” said Sinden. “With access to the latest GPUs and other services, we can push the technological envelope and accelerate the adoption of genomics into healthcare.”

GEL is working with AWS Professional Services and AWS Partner Kainos as part of the AWS Migration Acceleration Program (MAP). By migrating petabytes of genomic data and on-premises research environments to AWS, GEL can help accelerate scientific outcomes. Using analytics and tooling in the cloud also makes the data more secure. Genomic data stored in Amazon Simple Storage Service (Amazon S3) offers 99.999999999% durability.

For genomic analyses and related computing needs, GEL is using Amazon Elastic Compute Cloud (Amazon EC2), unlocking reliable, resizable compute capacity in the cloud. This allows researchers and data scientists to adjust their compute capacity on demand, which is more cost-effective. Sinden also pointed out that operating on a pay-as-you-go basis is ideal for academic and government-funded research because it allows for flexibility to accommodate fluctuations in grant funding. Building on AWS with the help of its partners, GEL optimized its high-performance computing architecture for both cost and speed, allowing researchers to perform common tasks in just 23 seconds that previously took 25 hours.

While many big data problems involve managing a large number of small files, genomics analysis usually involves a relatively small number of extremely large files. As a result, cloud genomics requires unique data distribution models. GEL is working with AWS to use compression technologies and other advanced tools to optimize cloud storage and analysis of genomic data based on the field’s specific needs. This industry-leading venture will pave the way for efficient, research-friendly genomic data management in the years to come.