Genomics England Names Four Finalist Companies to Begin Interpretation

By Bio-IT World Staff

June 3, 2015 | Genomics England today announced four finalist companies and one alternate that will begin working on the interpretation of the genomes of the first 8,000 patients participating in the 100,000 Genomes Project.  Congenica and Omicia will work in rare diseases, Nanthealth in cancer, and Wuxi Nextcode in both rare disease and cancer for this stage of the project. Lockheed Martin in partnership with Cypher Genomics is the alternate.

The chosen companies must pass a test phase and agree to the contract before work begins on August 1. Each of the successful suppliers will have to provide the services within the Genomics England data centre, thus ensuring that the data does not leave the data centre. 

Genomics England, owned by the UK Department of Health, was set up to deliver the 100,000 Genomes Project by sequencing 100,000 NHS patients by 2017.

The project kicked off in the Spring of 2014 with a “bake off” for annotation and interpretation to determine the quality of offerings around the world.  The challenge attracted 28 participants, each of which was sent the genomes of 15 rare disease trio samples and 10 cancer/normal samples and asked to interpret them.  The submitted reports were then evaluated by a team within Genomics England.

The 10 companies that passed this stage were then invited to take part in a tender to provide interpretation services in relation to the first 8,000 patients being treated within the 100,000 Genomes Project.  The focus of the tender was whether the companies could provide an automated service with limited amounts of manual intervention. Interpretation reports will be provided by multiple providers for some patients to compare performance.

The four companies plus one alternate announced today progressed from that phase of the program.

Genomics England continues to work with Illumina and are also expanding their partnership to explore a variety of bioinformatic challenges around sequencing and clinical interpretation.