Nominating a disease or tumour type for the 100,000 Genomes Project
When the 100,000 Genomes Project was first established, rare diseases, cancers and infectious diseases were chosen because they are the areas where we anticipate genomic medicine will offer the strongest prospect of patient and scientific benefits and the ability to drive NHS transformation.
The Project is in its early stages. This means we can’t yet offer whole genome sequencing to as many people in as many areas as will be possible in the future. While we learn how best to deliver a NHS genomic medicine service, we are focusing on a certain number of rare diseases (opens as PDF) and cancers (bladder, breast, brain, childhood solid cancers, colorectal, endometrial, lung, melanoma, ovarian, prostate, renal, upper gastrointestinal, testis, sarcoma, and cancers of unknown primary). The core disease and tumour type list will evolve throughout the life of the Project.
Genomics England is currently accepting submissions for rare diseases and tumour types for inclusion in the Project.
You can also propose a change to existing rare disease eligibility criteria (opens as PDF).
Clinicians and healthcare professionals, NHS Genomic Medicine Centres, GeCIP partners and industry partners can:
Points to consider
- The rare disease strand of the 100,000 Genomes Project is intended to offer the opportunity for diagnosis and gene discovery in disorders or phenotypes for which there is likely to be a single gene basis for the phenotype in the patients recruited to the Project.
- The number of genomes afforded to any single phenotype will necessarily be limited and therefore we are unable to include large cohorts of any single specific phenotype. As a result, we are unable to include disorders for which the aetiology is likely to be complex and polygenic, as the size of cohort required for meaningful study of the genetic basis of such phenotypes will be beyond the scope of this programme.
- For rare diseases, the proband and multiple family members will have their germline genome sequenced from blood samples.
- In the Cancer programme, the aim is to carry out both germline and somatic sequencing in each participant with predominant collection of fresh/frozen tissue over formalin-fixed tissue. Read more about sample collection/pathology.
- The forms linked on this page are the only ways to submit a case for inclusion or amendment. Nominations received via any other mechanisms – for example emails sent directly to Genomics England – will not be accepted.
Each nomination will be initially assessed by the Office of the Chief Scientist to ensure that the information provided is scientifically comprehensive, relevant and justified.
The case will then be reviewed by scientific experts in our Clinical Interpretation Partnership.
Their recommendation will then advise the Science Advisory Committee and the Genomics England Board which will make a final decision. This process will also involve NHS England as the commissioning body.
If accepted, the nominator will be required to submit information related to the nomination, such as a gene list that will form the basis of any initial first pass analysis of individuals’ whole genome sequences. Nominators will also be required to submit a full data model describing phenotypic and clinical tests on which information should be collected (see here for guidance). Further details of this stage will be communicated along with the Science Advisory Committee’s decision.
Please ensure that you complete all fields with as much detail as possible, to ensure that the phenotype can be properly and fully evaluated for its suitability for inclusion or change.
Upon submitting the form(s), you will receive confirmation that your nomination has been acknowledged by the Office of the Chief Scientist.
If you experience any difficulties in completing the form(s) or need further information please contact us at firstname.lastname@example.org (opens in your email application).