This is an important part of the NHS Genomic Medicines Service infrastructure being assembled, and will help translate genomic tests into actionable clinical reports for doctors to use.
The initiative, which was rolled out for testing on cancer patients or those with rare and inherited diseases earlier this month, will provide clinical information on 100,000 patients, a number that is expected to rise to one million over the next five years.
The end game for the UK government-established Genomics England is to create an end-to-end genome medicine service within the NHS - an area where England could become a world leader.
Professor John Mattick, Chief Executive of Genomics England, commented: “By working with Congenica from the start of the 100,000 Genomes Project, we’ve been able to provide high quality variant interpretation of genome sequences to the NHS, helping deliver benefits to patients at scale.
Congenica’s role will be a supportive one, offering up its Sapientia programme, a diagnostic decision support platform that enables clinicians to examine the human genome. This will allow for the identification of disease-causing variants.
Congenica’s CEO, Dr David Atkins said: “Genomics England and the NHS have done extraordinary work in building the foundations for the Genomic Medicine Service.
The 100,000 Genomes Project has broad potential, and could be used to help accelerate drug discovery and development. The plan is to also integrate the data into an individual's medical records, which could be a world first for any health service.