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Fields marked with * are required. In cases where the information is not applicable, please state N/A.
Please read the information on nominating diseases and tumour types before you complete this form. Also before you begin, consider:
1. Is your proposed disease or tumour type already included in the 100,000 Genomes Project? Click here to check.
(If you would like to propose a change to the eligibility criteria for one of the rare diseases, go to the Rare Disease Eligibility Change Form).
2. For a rare disease nomination, is the aetiology of your disease complex and polygenic?
3. For a tumour type nomination, are there large scale sequencing programmes already being focusing on the tumour type (e.g. TCGA or ICGC)?
4. Are there any sections of this form you currently cannot complete?
If your answer is ‘yes’ to any of the above points, your nomination is not likely to be taken forward for consideration.
Please continue if your answer is ‘no’ to the above points, and you feel there is a strong case for your proposed disease or tumour type to be included in the 100,000 Genomes Project.
Please complete all fields with as much detail as possible. If you experience any difficulties when using this form or need more information, contact us.
Note: You cannot save this form, so we recommend drafting and saving your answers elsewhere. You can download the questions in a word document.
Examples include cohorts based on patient epidemiology (eg young-onset disease), tumour characteristics (eg a particular histological subtype), paired sample collection (eg tumour sampling pre-and post- neoadjuvant chemotherapy), co-recruitment to specific clinical trials/studies etc.
If you are listing multiple OMIM numbers, please separate them with a space.
Proposed requirements for a patient to be enrolled:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype.
Specify if any exceptions to our standard general prior testing requirements should be considered.
You can identify HGNC gene symbols using genenames.org/search.
You can check the status of a list of gene symbols at genenames.org/cgi-bin/symbol_checker. If listing multiple genes, please follow this format example: GPD1L HCN4 KCNE3 SCN1B SCN3B SCN5A
Please email chiefsci[email protected] with any relevant existing data models, research questionnaires or registry standards that are available.
Please also include the source of these documents in your email. Note that you will be required to submit a more detailed model if your application proceeds to the next stage.
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