100,000 Genomes Project has its 30 research domains and respective lead researchers in place.

Following the announcement of their clinical interpretation systems evaluation earlier this month, Genomics England have reached another significant milestone for the 100,000 Genomes Project today. We know now who will be working on what. Researchers from across academia and the NHS have come together to form the Genomics England Clinical Interpretation Partnership (GeCIP).

GeCIP has been set up so that funders, researchers, trainees and clinicians can all collaborate. By forming communities around specific domains, there will be a constant refinement of how the 100,000 genomes data-set will be interpreted in the clinic. This also includes research to improve our understanding of genomic medicine and its application to healthcare. In particular, it is hoped that this work will help develop new diagnostics and therapies.

Professor Mark Caulfield, Chief Scientist at Genomics England, said: “Our vision is to create a powerful research and training programme alongside the 100,000 Genomes Project. The Genomics England Clinical Interpretation Partnership (GeCIP) provides the environment for that activity. We want to ensure research findings go straight back to clinicians and patients so they can benefit and the GeCIP has been established to accelerate that. This work at the forefront of technology and medicine. It’s a huge opportunity for everyone involved. Most importantly for patients – we want to deliver new diagnosis and new treatments for people as quickly as possible.”

The announced lead researchers, for each domain, will meet in London for the first GeCIP meeting today.

Dr James Brenton, lead of the ovarian cancer domain said: “Cancer is a genomic disease – changes to DNA in cells leads them to become cancerous. Whole genome sequencing will be especially important for patients with high grade serous ovarian cancer as their cancer cells have very complex genetic damage which is difficult to measure in the clinic, preventing personalised treatment. We will be supporting Genomics England to interpret the data in the project to directly improve patient care. We will also be undertaking research which we hope will lead to new clinical trials for treatments that are based on someone’s individual genetic make-up.”

Professor Bill Newman, lead of the validation and feedback domain said: “We will be working with bioinformaticians and molecular geneticists both within and outside of Genomics England. We will work across both cancer and rare diseases. The project is very likely to identify changes in the genome that can cause disease, and these changes won’t have been seen before. We will be working to verify all new findings, confirming them in the laboratory and with other further tests. This will improve our understanding of genomics and how it can be used in healthcare.”

Professor John McGrath, lead of the rare skin diseases domain said: “As well as working with Genomics England on interpreting data, we will be undertaking research into rare skin diseases. We aim to identify changes in the genome that cause disease. We also want to understand how these changes affect different symptoms. We hope this will enable us to recommend specific treatments for people, based on their genomic sequence.”

The GeCIP domains and lead researchers are as follows:

Rare Disease:

Cardiovascular – Professor Bernard KeavneyThe University of Manchester
Endocrine and Metabolism – Professor Stephen O’Rahilly University of Cambridge
Gastroenterology and Hepatology – Dr Patrick Dubois/Dr Gideon HirschfieldLondon Bridge Hospital/University of Birmingham
Hearing and Sight – Professor Andrew WebsterMoorfields Eye Hospital

Immunology and Haematology – Professor Sophie Hambleton/Professor Willem Ouwehand/Dr Judith Marsh Newcastle University/University of Cambridge/ Kings College London
Inherited Cancer Predisposition – Dr Clare TurnbullInstitute of Cancer Research
Musculoskeletal – Dr Muhammed JavaidUniversity of Oxford
Neurological – Professor Henry HouldenUCL Institute of Neurology
Paediatric Sepsis – Professor Michael LevinImperial College
Paediatrics – Dr Tim Barrett/Dr Phil BealesUCL Institute of Child Health
Renal – Dr Daniel GaleUCL Centre for Nephrology
Respiratory – Professor Eric AltonNational Heart and Lung Institute
Skin – Professor John McGrathKing’s College London


Breast Cancer – Dr Nicholas TurnerRoyal Marsden Hospital
Colorectal Cancer – Professor Ian TomlinsonUniversity of Oxford
Lung Cancer – Professor Charles SwantonUniversity College Hospital
Ovarian Cancer – Dr James BrentonUniversity of Cambridge
Prostate Cancer – Professor Johann De BonoInstitute of Cancer Research
Childhood Solid Cancers – Professor Josef VormoorNewcastle University
Haematological Malignancy – Dr Anna SchuhUniversity of Oxford
Pan Cancer – Professor Dion MortonUniversity of Birmingham


Electronic Records – Professor Harry HemingwayUniversity College London
Validation and Feedback – Professor Bill Newman University of Manchester
Ethics and Social Science – Professor Mike ParkerUniversity of Oxford
Functional Effects – Dr Ewan BirneyEMBL-EBI
Health Economics – Dr Sarah WordsworthUniversity of Oxford
Machine Learning, Quantitative Methods and Functional Genomics – Professor Martin Tobin University of Leicester
Population Genomics – Dr Richard DurbinWellcome Trust Sanger Institute
Translational Research – Professor Kate BushbyNewcastle University
Functional Cross Cutting – Professor Colin Cooper/Dr Gkikas Magiorkinis/Dr Michael SimpsonKings College London/University of Oxford/Kings College London
Education and Training – Health Education England