AWS Public Sector Blog
Powering Singapore’s genomic research with AWS and Illumina
Precision medicine hopes to transform healthcare for groups and individuals by gaining a deeper understanding of the genetic factors that underpin certain chronic diseases. But research in this field is currently challenged by the underrepresentation of Asian ancestries in existing genomic databases.
Although Asia is home to more than half of the global population, many Asian genetic variations are not adequately captured in these databases, which are overwhelmingly based on people of European descent. This data gap leads to missed opportunities for early detection and targeted treatment, particularly for conditions that are more prevalent in Asian as opposed to European populations, such as Type 2 diabetes.
Singapore, with its diverse population, presents a unique opportunity to bridge the gap in representation of Asian health datasets. Singapore’s three major ethnic groups — Chinese, Malay, and Indian — together represent more than 80 percent of the genetic variation in Asia. By focusing on these underrepresented populations, researchers can build more robust datasets, thus improving precision medicine outcomes for populations in Asia.
Precision medicine powered by advanced technology
Precision medicine is a data-driven approach that considers individual variations in genetics to allow healthcare professionals to more accurately predict, prevent, diagnose, or treat different groups of people. As part of ongoing research to advance genomic research in Singapore, companies like Amazon Web Services (AWS) and Illumina play a pivotal role in genome sequencing and analysis, and providing the tools and technology needed to analyse large-scale genomic datasets to help decode the risk factors for certain Asian-specific chronic diseases.
Illumina uses cutting-edge bioinformatics software to power their analyses, such as DRAGEN™ (Dynamic Read Analysis for GENomics) secondary analysis on Illumina Connected Analytics to analyze Next Generation Sequencing (NGS) data. DRAGEN secondary analysis pipelines, enable customers to leverage a comprehensive suite of workflows and high levels of variant calling accuracy within a secure and customizable data management platform when accessed through Connected Analytics, enabling scientific insight at scale.
Advanced computational tools and resources provided by AWS make the sequencing process fast, efficient and scalable. Connected Analytics additionally allows users to manage datasets stored on Amazon Simple Storage Service (Amazon S3). DRAGEN, which runs on Amazon Elastic Compute Cloud (Amazon EC2) F1 instances, uses field-programmable gate arrays (FPGAs) to accelerate analysis by up to 10 times to deliver exceptionally accurate and efficient secondary analysis results.
This means that users can build efficiencies in operationalizing bioinformatics workflows, building and customizing workflows, while seamlessly integrating data with sequencing instruments all within a single, secure operating environment.
Protecting data security
Data security and privacy are the top priorities in national research programmes like Singapore’s National Precision Medicine (NPM) programme. Strong privacy safeguards in accordance with prevailing legislation, standards and guidelines are particularly vital. As such, the robust data governance features AWS offers, including the AWS Key Management Service (AWS KMS), protect the anonymized genomic resource generated by such projects.
AWS and Illumina are partnering to provide scalable and secure solutions tailored for genomics, enabling researchers and healthcare providers to analyse vast amounts of genomic data swiftly and securely. With AWS, Illumina has revolutionized genomic data analysis and reduced time-to-insight.