Exploring Genetics with Amazon Web Services

As health care becomes increasingly digitized, scientists, doctors and researchers face the challenge of deciphering unprecedented amounts of data to adequately personalize care. The excess of information available to these experts often outpaces their ability to consume and analyze it. Amazon’s cloud unit is working to close that gap.

Amazon Web Services has launched Amazon Omics, a service that helps researchers store and analyze omic data like sequences of DNA, RNA and proteins. The service provides customers with the underlying infrastructure they need to make sense of large amounts of data so they can spend more time making new scientific discoveries.

AWS is a major source of revenue for Amazon, generating $20.5 billion in the third quarter. The cloud-computing business has been expanding into health care, and while AWS doesn’t disclose revenue projections for particular services, the global genomic data analysis market size is expected to reach $2.15 billion by 2030, according to a report from Straits Research.

According to Dr. Taha Kass-Hout, chief medical officer at AWS, the vast majority of health care data is unstructured. This means that only a small percentage of it is used, with the rest being left unindexed and unorganized. This can pose a challenge for researchers who are collecting omic data from large numbers of patients.

Kass-Hout served two terms under President Barack Obama and was the first chief health information officer at the U.S. Food and Drug Administration. Prior to his time at Amazon, Kass-Hout was deeply involved in government health initiatives.

According to Kass-Hout, sequencing a single human genome can require anywhere from 80 to 150 gigabytes of storage. Some research projects deal with petabytes and exabytes of genomic information.

Kass-Hout told CNBC that if you want to print the human genome on a printer, it would take almost nine Harry Potter's worth.

Amazon Omics helps researchers sort through their data by providing them with three components that they can leverage individually or as a collective. Omics-aware object storage helps researchers store and share raw sequence data; Omics Workflows helps run workflows that process raw sequence data at scale; and Omics Analytics simplifies the output of the sequence processing. By providing these three components, Amazon Omics makes it easier for researchers to manage and make use of their data.

More than a dozen customers and partners have tested a beta version of the Amazon Omics service and are already using it.

Jeffrey Pennington, chief research informatics officer at the Children’s Hospital of Philadelphia, has seen a noticeable impact from the use of artificial intelligence in healthcare.

Pennington works in the department of biomedical and health informatics, which uses data and technology to solve issues in child health. He said that, after five years of expanding the infrastructure to analyze omics data, the department no longer needs to build or maintain it themselves.

Pennington said that while they are a large pediatric academic medical center, they are still not large enough to learn and build everything that is required to make productive use of omic data. He said that their time and energy is better spent putting the puzzle together rather than generating those pieces in the first place.

Amazon Omics encourages collaboration between large research groups, smaller clinical groups, and intelligence and pharmaceutical companies, said Boris Oklander, co-founder and chief technology officer of C2i Genomics. This collaboration allows for a sharing of resources and knowledge that can help advance research and develop new treatments.

C2i is a biotechnology company that is using genomic data to develop personalized treatments for cancer. According to Oklander, the company participated in the beta for Amazon Omics after trying to develop its own data-analysis technology.

He said that Amazon Omics has created an ecosystem for collaboration that eliminates the need for researchers to build a complex technology from the ground up.

He said that they are democratizing and that this type of service is something that allows different players to unlock the value in their investments.

Other major tech companies have developed similar tools to help researchers interpret data generated by genomic technologies. Microsoft’s cloud-computing platform Azure launched Microsoft Genomics in 2018, and Google’s Cloud Life Sciences technology also allows researchers to process biomedical data at a large scale.

Pennington said that while the Broad Institute and DNAnexus offer popular genomic data analysis services, they can be difficult to maintain and may not be able to handle as many data types as Amazon Omics.

Given the sensitive and deeply personal nature of omic data, it is essential that privacy and patient data protection is given the highest priority. AWS uses more than 300 security, compliance and governance services and supports 98 security standards and compliance certifications in order to provide the best possible protection for its customers. In addition, AWS also provides best-practice resources and encryption tools to its customers to help them stay compliant.

Customers are responsible for building secure applications on top of Amazon Omics’ services. This protects AWS from seeing or leveraging the data.

Kass-Hout explained that Amazon Omics provides a way to index information efficiently, so researchers can focus on making real advances in precision medicine.

"I believe that the next decade will be about making sense of the data that the health and life science industry has digitized over the last decade," he said. "This data can be used to find new therapeutics, diagnostics, and more targeted therapies."