Genomics, and next-generation sequencing (NGS) in particular, are the foundation for personalized medicine. The ability to rapidly and inexpensively sequence entire genomes in individuals and populations drives innovations: non-invasive pregnancy testing, rare disease diagnoses, advanced tumor testing, and many others. In turn, these advances continue to improve patient care.
Recently, I had the opportunity to speak at Amazon Web Service’s Healthcare & Life Sciences symposium about how the Illumina partnership with AWS is helping our customers address the challenges of data security at the scale we are seeing our customers produce.
We all know that declining costs are driving exponential sequencing growth at all levels. While NGS adoption has accelerated, we have characterized only 0.1% of observed genomic variation.
What do we need to do better? Security, scalability, and analytics top the list. We must deliver more robust technology and infrastructure to make genomics routine. The process has already begun. Genomics will provide individualized care across the complete spectrum of human health in the not-too-distant future, from conception to end-of-life.
Population Genomics and the Analytics Pipeline
More than 50 population-scale human sequencing initiatives are underway in the UK, Japan, Brazil, Finland, China, the US, and many other countries, sequencing millions of people. These projects are delivering tremendous amounts of data that will help translate genomic findings into precision healthcare.
To help organizations manage and analyze these massive data troves, we developed Illumina Connected Analytics (ICA), a comprehensive, scalable, and secure software platform. Combined with AWS cloud services, we can process millions of whole genomes every year – hundreds of petabytes of data.
Using ICA, our clients import data directly from their sequencers, upload via our CLI or API, access publicly available databases, and connect directly to their s3 buckets.
ICA harnesses the DRAGEN Bio-IT Platform to drive accurate and rapid analyses, reducing turnaround times and maximizing throughput. This approach was validated at the 2020 Precision FDA challenge, during which DRAGEN was singled out for its precision and accuracy.
As these population-wide studies and other initiatives leverage the cloud, we must continuously focus on data security. Protecting sensitive data in a dynamic security landscape will always be challenging for clinical sites and research institutes, which may not have a team of experts to fall back on. Illumina has made reducing this data security burden a significant priority.
The AWS shared responsibility model is the foundation, ensuring our underlying cloud infrastructure maintains the highest security levels. We are also complying with international standards, such as ISO 13485 and ISO 27001, and HIPAA and GDPR. Finally, we incorporate key security features, such as single sign-on and multi-factor authentication. These steps help provide our customers with peace of mind that sensitive data is secure to continue to focus on what they do best – the science.
As we gather more data, progress our analysis capabilities, and develop new insights, we will continue to unlock the power of the genome and ultimately deliver healthier, fuller lives for people across the globe.