Cancer is the leading cause of death globally, with nearly 10 million deaths per year. Rare diseases impact more than 400 million people worldwide, and 95 percent don’t have an approved treatment. In the vast majority of cases, both cancer and rare disease are diseases of the genome, caused by mono or polygenic variations. Organizations around the world are turning to genetics as the key to diagnosing and treating patients.
While each individual has a unique genetic code, researchers require robust cohorts of data from sick and healthy patients alike to identify similarities and differences in disease-causing regions of the genome. In all corners of the globe, governing bodies, research organizations, and corporations have established population-wide genomics projects designed to increase understanding of disease origins, identify new treatments, and drive genomics from research practice into healthcare settings.
Genomics England (GEL) was formally established in July 2013 as part of the 65th birthday celebrations of the National Health Service (NHS). Wholly owned by the Department of Health and Social Care, GEL was tasked with a flagship project to sequence 100,000 whole genomes from NHS patients with rare diseases and their families, as well as patients with common cancers. After the successful completion of the pilot project in 2018, the NHS announced that it would partner with GEL and the UK Biobank to sequence up to 5 million genomes in 5 years and make the data available for research.
To make genomic healthcare a reality, GEL is transitioning from project to platform, using Amazon Web Services (AWS) tools to give researchers reliable, comprehensive, and privacy-compliant access to these massive datasets. Through secure collaboration and analysis, this initiative will inform diagnoses, drive drug development, and unlock the future of precision medicine.
Read the full case study to learn how GEL is sequencing 50 petabytes of genome data on AWS.