Clinicians, researchers and industry collaborate with the 100,000 Genomes Project
Genomics England has announced a new collaboration as part of the 100,000 Genomes Project to accelerate the development of new diagnostics and treatments for patients. Ten pharma and biotech companies have come together to create the Genomics Expert Network for Enterprises (GENE) Consortium to oversee a year-long industry trial.
Genomics England also announced the specific domains or areas that clinicians and scientists across the U.K. will be exploring within Genomics England’s Clinical Interpretation Partnership (GeCIP), with a view to identifying new scientific findings and medical discoveries from the 100,000 genome dataset as it emerges.
Following a call to the research community in November, more than 2,000 researchers, clinicians, analysts and trainees were involved in 88 applications to become part of GeCIP. Genomics England has announced that over 28 teams (domains) will be established for clinical and research experts to work in as part of its GeCIP. Teams not only will focus on a vast range of disease areas, but also analytical and social sciences.
Professor Mark Caulfield, chief scientist for Genomics England, said, “This partnership brings together over 4,000 U.K. clinicians and scientists as well as over 500 international collaborators at the forefront of Genomic Medicine. They have all committed to work on the 100,000 Genomes Project to drive up the quality of clinical interpretation to ensure that we feedback more new diagnoses to NHS patients.
“The domains we are announcing cover the entire range of diseases within the 100,000 Genomes Project,” said Caulfield. “For example, in rare disease there are domains ranging from cardiovascular, neurological to pediatric. In cancer, there are disease specific domains such as breast and colon, and also analyses across multiple cancers looking for common features and pathways. Excitingly, many proposals offer added dimensions to the program such as ethics, social science, state-of the art analytical methods and advanced machine learning. Reference library domains also offer a range of key reference databases essential to understanding the impact of the 100,000 Genomes Project on human health.”
Subject to contract negotiation and signature, the following 10 companies are the first to sign up to the GENE Consortium: AbbVie, Alexion Pharmaceuticals, AstraZeneca, Biogen, Dimension Therapeutics, GSK, Helomics, Roche, Takeda and UCB.
The Genomics England Clinical Interpretation Partnership will work in over 28 domains, including:
- Rare Disease, e.g., cardiovascular, neurological, pediatrics amongst others
- Cancers, e.g., breast, colorectal and other cancers
- Pan cancer analysis across many cancers
- Functional effects on gene expression, proteins and life-long DNA changes
- Electronic health records research
- Ethics, law and social science
- Health economics
- Validation and feedback.