AWS launches new genomics data service for life sciences, healthcare companies

Amazon Web Services has launched a new genomics service to run IT-heavy bioinformatics workflows for healthcare and life sciences companies.

Amazon Omics, powered by Amazon Web Services, is a purpose-built service to help bioinformaticians, researchers, and scientists store, analyze and generate insights from genomic, transcriptomic and other omics data.

"We’re approaching an inflection point in health to provide highly personalized and precisely targeted diagnostics and treatments to people, known as precision medicine," Tehsin Syed, AWS' general manager of health AI, and Dr. Taha Kass-Hout, vice president of machine learning and chief medical officer at AWS, wrote in a blog post.

More than 98% of medical records are now in digital form and the digitalization and sharing of medical data is driving the demand for precision medicine technologies. There's also been a steep decline in the cost of sequencing with a 100,000-fold reduction in cost since the human genome was first sequenced in 2001, reaching an all-time low of approximately $200, Syed and Kass-Hout wrote.

Cloud computing also is rapidly growing across healthcare and life sciences.

The combination of clinical and omics information is being used in drug discovery, vaccine development, and to predict an individual’s genetic predisposition to disease—delivering more personalized treatments across therapeutic areas like cancer, infectious diseases, and rare diseases.

But, the size, rapid accumulation, complexity, and heterogeneity of omics data pose difficulties for healthcare and life sciences companies using existing tools and systems. This data also creates challenges in privacy, security, data ownership and stewardship, governance, and fairness, Syed and Kass-Hout wrote.

AWS built Amazon Omics to support large-scale analysis and collaborative research, without healthcare companies needing to worry about provisioning the underlying infrastructure

"Customers can bring their own bioinformatics workflows and Amazon Omics manages the infrastructure to run it, according to AWS executives. "This further reduces undifferentiated heavy lifting, enables customers to operate in a secure environment with built-in access control, logging and audit trails, while still complying with HIPAA, GDPR, and other regulations," Syed and Kass-Tout wrote. 

AWS' genomics service provides customers with three components: omics-aware object storage to store, discover, and share raw sequence data efficiently, securely, and at low cost; omics workflows to enable customers to run reproducible bioinformatics workflows to process raw sequence data; and analytics for operating analytics through query-ready variants (or mutations) and annotations. 

Children’s Hospital of Philadelphia (CHOP) is using Amazon Omics to power its genomics projects.

“At Children’s Hospital of Philadelphia, we know that getting a comprehensive view of our patients is crucial to delivering the best possible care, based on the most innovative research. Combining multiple clinical modalities is foundational to achieving this. With Amazon Omics, we can expand our understanding of our patients’ health, all the way down to their DNA," said Jeff Pennington, associate vice president and chief research informatics officer, Children’s Hospital of Philadelphia in a statement.