Genomics England (GeL) Pilot Study

People Panel D_2x4_Rare DiseasesGeL was established in July 2013 by the Department of Health to perform whole genome sequencing analysis on 100,000 participant samples. This project will recruit from the UK NHS and data will also be held within the NHS for patient benefit.

From the 100K genomes up to 50,000 have may be allocated to individuals with rare diseases to improve understanding, diagnosis and therapies for these diseases. As a successful NIHR BioResource, the NIHRBR-RD has been selected to pilot the GeL study for Rare Diseases, and has been allocated capacity to WGS 2,000 participants. These participants will be recruited at Cambridge University Hospitals, University College London Partners and Newcastle upon Tyne NHS Foundation Trust. This will range across many rare diseases and the phenotype characteristics collected by the clinical care teams will be those used in ordinary medical practice to guide diagnosis and treatment.

The aim of GeL pilot is to recruit participants with rare diseases where current precise genetic cause or diagnosis is unavailable and where there is a clear unmet need for further discovery of genetic variants, or high potential for translational benefit. At least 2,000 participants will be used to establish the necessary procedures for undertaking the larger programme evaluating 50,000 genomes from patients and families with rare diseases from 2015. GeL has separate amended patient information leaflets (PILs) and consent forms (CF) based on the approved NIHRBR-RD patient information leaflets (PILs) and consent forms (CF). This is recognise the involvement of GeL, to reflect the wider remit for collecting data from multiple data and the access to this data in anonymised format for clinicians, academic researchers and industry. GeL will predominately collect EDTA whole blood samples, or use already stored DNA (extracted from blood), as saliva/buccal swabs are of poorer quality for whole genome sequencing as they contain too a high concentration of DNA which originates from the oral microbiome and food. If venous access is challenging (e.g. poor superficial veins or needle phobia) we may consider collection of saliva on occasions.

Recruitment Criteria

Inclusion Criteria
  • Individuals of any age with a clinically apparent or suspected Mendelian trait.
  • Classic mutation testing is unavailable in the UK or has not resulted in a diagnosis.
  • When there are number of potential genetic mutations to test for, but the patient does not fit the phenotype of any specific disease gene.
  • If whole exome sequence has not yielded any gene variants, but when the disease is still strongly suspected of being Mendelian.
  • United Kingdom NHS patients & their relatives.
Exclusion Criteria
  • Genetic diagnosis given.

Centres at which the GeL pilot is running
 (only these sites are eligible to recruit to GeL pilot):

Cambridge University Hospital NHS Foundation Trust
Central Manchester University Hospitals NHS Foundation Trust

Great Ormond Street Hospital
Guy’s and St Thomas NHS Foundation Trust,
London Moorfields Eye Hospital
Newcastle upon Tyne NHS Foundation Trust
Oxford University Hospitals NHS Trust

University College Hospital, London

If you have any questions about GeL recruitment, please contact the GeL Coordinator Eleanor Dewhurst.

Find out more

If you would like to find out further information about the NIHR BioResource, please click the link below, to find the person to direct your enquiries to.