Firms Selected to Provide Interpretation Services for 100k Genomes Project
News Jun 04, 2015
Subject to passing a test phase and agreeing to a contract, Genomics England will engage Congenica and Omicia's services for rare disease interpretation, NantHealth will provide services for oncology, and WuXi Nextcode will provide clinical interpretation for both rare diseases and cancer as part of the initiative.
Genomics England also said that Lockheed Martin, in partnership with Cypher Genomics, has been selected as a reserve bidder. The selected companies are expected to begin providing services on Aug. 1, 2015. They'll be expected to provide interpretation services from within the Genomics England data center. This phase of the project is expected to be completed within 12 months.
"This is an important milestone for the project," Augusto Rendon, Genomics England's director of bioinformatics, said in a statement. "We are looking to provide high-quality variant interpretation to assist clinicians within the NHS, and these companies will enable us to deliver this service. We look forward to working with each of the successful companies over the next year."
Genomics England first launched a bake off to identify vendors that could provide annotation and interpretation tools and services for the 100,000 Genomes Project in spring 2014. That initial call attracted 28 participants, each of which was asked to interpret the genomes of 15 rare disease trio samples and 10 cancer/normal samples. Ten companies were selected from this initial pool for a follow-up phase, under which companies were asked to participate in a tender to provide interpretation services for the first 8,000 patients being treated within the project.
Genomics England intends to use the lessons it learns during this phase of the project to make decisions about contracts for its future clinical interpretation needs in early 2016. Meanwhile, it will continue to work with Illumina and intends to expand its partnership with the instrument vendor to explore various bioinformatics challenges around sequencing and clinical interpretation.
There are hundreds of thousands of structural variants (SVs) in the human genome that are hard to identify than single nucleotide variants. Researchers have used a full suite of genomic technologies to analyze the number of SVs in three individuals, and the results present as the most comprehensive catalog of SVS to date.READ MORE