Genomics England is inviting applications to join a new Clinical Interpretation Partnership from U.K. researchers, NHS Clinicians and those in training where they will work on the unique data resource from the 100,000 Genomes Project. The goal of the Genomics England Clinical Interpretation Partnership (GeCIP) is to bring together the best researchers in the U.K., alongside their key international collaborators, to ensure maximized potential to gaining new biological insights into rare inherited diseases, cancers and infectious disease.

Genomics England is embarking on a unique partnership that will bring together researchers and the NHS at the earliest possible stage of the program to accelerate translation of the findings into earlier diagnoses for patients and prime the potential for therapies in the future.

Professor Mark Caulfield, chief scientist at Genomics England, said, “We need a coalition of intellects to come together to interpret and use this incredible resource for the benefit of current and future patients. Typically it is only when researchers publish their research that it is considered for adoption into healthcare, which often takes a long time. It is our hope that introducing this novel interactive approach at the earliest phase of the 100,000 Genomes Project will lead to more rapid diagnosis and possibly new treatments for individuals affected by rare disease, cancer and infection.”

Professor Dame Kay Davies FRS, chair of the Clinical Interpretation Partnership Board, said, “There are around 7,000 rare diseases, but we only know the genetic cause of around half of these. We know that cancer is a disease of disordered genomes, but we don’t know all of the variations that drive cancer or importantly influence response to therapy. Our offer today is for multidisciplinary teams to come together to access the 100,000 Genomes Project in a secure data center where they will work on this very large dataset.”

The 100,000 Genomes Project currently is focused on sequencing whole genomes of patients with certain rare diseases and cancers where scientists believe they can have the most impact on diagnosis and treatment. With the cost of genome sequencing decreasing, this provides the opportunity for whole genome sequencing to become part of NHS mainstream healthcare in the future.

These partnerships will include leading disease experts, experts in ethics and social sciences, computer scientists and health records researchers and will harness the knowledge and talent within the NHS and the research community to help tackle disease areas that we still know little about. The U.K. scientific community is being asked to propose “teams” that will constitute multidisciplinary clinical, academic and training domains offering high calibre skillsets to this endeavor. Disease domains are expected to focus on areas including rare heart disease, breast cancer and rare inherited neurological disease.