Empowering Clinical Diagnostics with AWS Health Omics
Patient Story
- Brent, a patient, underwent various medical examinations and treatments for pelvic trauma and bladder cancer.
- The Signatera test, developed by Natera, was able to detect Brent's cancer recurrence 9 months earlier than traditional imaging methods, allowing for timely intervention and treatment.
- Signatera's ability to provide a "long view" of the patient's condition gave Brent peace of mind and allowed him to focus on his family and life.
Natera's Journey
- Natera is a global leader in genetics and diagnostic testing, offering over a dozen tests in oncology, women's health, and organ health.
- Signatera, one of Natera's tests, has helped over 250,000 patients by detecting cancer recurrence earlier than traditional methods.
- To keep up with the growth of Signatera and their portfolio of tests, Natera needed scalable solutions that could maintain turnaround times and enable collaboration, allowing their teams to focus on innovation rather than infrastructure.
AWS Health Omics
- AWS Health Omics is a service designed to accelerate scientific breakthroughs with fully managed biological data stores and workflows.
- Customers use Health Omics in three key ways:
- Production-scale clinical diagnostics tests
- Generative AI experimentation for drug discovery
- Multimodal analysis, combining genomics data with other data sources
Health Omics Components
- Sequence Store: Allows customers to store and manage petabyte-scale genomic data in a cost-effective and discoverable manner.
- Workflows: Enables customers to run bioinformatics analyses with a single API call, automatically managing the underlying infrastructure.
- Variant Store: Streamlines the process of storing, querying, and analyzing variant data, allowing for fast, zero-ETL processing.
- Integrations: Allows customers to combine genomic data with other data sources, such as clinical records and imaging data, for a more comprehensive view of patient health.
Natera's Implementation
- Natera has built a "digitally connected lab" (Lab X) on AWS, leveraging Health Omics to scale their Signatera and other diagnostic tests.
- Key components:
- Assay-based architecture, enabling reuse of wet lab and bioinformatics workflows across different tests.
- Integration of Health Omics workflows and variant store to streamline bioinformatics processes.
- Analytics platform to combine genomic data with clinical data, enabling the creation of comprehensive patient cancer journeys.
New Features
- Call Caching: Allows developers to resume workflow runs from the last successfully completed task, accelerating the development of new bioinformatics workflows.
- Digital Pathology with Health Imaging: Enables the storage, analysis, and sharing of whole-slide images, allowing pathologists to access and collaborate on these images from anywhere.
Overall, the presentation showcases how Natera is leveraging AWS Health Omics to scale their clinical diagnostics operations, accelerate innovation, and provide comprehensive patient care, highlighting the key capabilities and new features of the service.