Patients will be invited to take part in the 100,000 Genomes Project by their hospital doctor or healthcare professional. Within the WE GMC cancer patients eligible to be consented to the project will be identified during the cancer Multi-Disciplinary Team meetings. Patients who have a rare disease can be referred to the WE GMC for consideration.
The following information describes how to nominate rare disease index cases to the West of England Genomic Medicine Centre for the first phase of enrolment to the 100,000 Genomes Project. This phase is for cases that have already been evaluated by rare disease clinicians and who have undergone some genetic testing
The key steps below should be followed by a healthcare provider wishing to refer their patient for consideration for the 100,000 Genomes Project within the WEGMC region:
Step 1: Check eligibility of index case
- Eligible cases will have a rare disease of presumed genetic basis that is on the Genomics England approved list of disorders. Cases will also have had ‘standard’ NHS genetic testing, without identification of a causal variant.
- The current eligibility criteria are available from the List of Rare Diseases and Rare Diseases Eligibility Statements (http://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/).
- ‘Standard’ NHS genetic testing is a flexible criterion. We encourage notification of potential cases who have undergone some genetic testing, or if the UK genetic testing laboratory network does not offer a test for the suspected rare disease (http://ukgtn.nhs.uk/).
Step 2: Consider family structure
- Enrolment of pedigree members helps improve diagnostic yield, irrespective of inheritance pattern.
- The preferred option is a trio comprising index case and both parents. If this is not possible, then enrolment of other pedigree combinations is acceptable, including single index cases as a last resort.
- More information about pedigree enrolment is available from the Guidelines for Family Pedigree Selection (http://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/).
Step 3: Notify the WEGMC team
- Please notify us about potentially eligible cases by secure email to firstname.lastname@example.org including:
1. Name and NHS number/date of birth of the index case.
2. The diagnostic category, subcategory and specific disease from the List of Rare Diseases.
3. Prior investigations and genetic testing done for the patient.
4. Which pedigree members are potentially accessible. 5. Whether the project has been introduced to the patient/family (we request that the project is first discussed by a clinician known to the patient).
5. Whether you anticipate difficulties with communication or in obtaining a blood sample.
- We will confirm notification by return email and record case details on the WEGMC database.
- You will be invited to attend a Genomics MDT meeting to discuss your potentially eligible cases.
- If eligible, the WEGMC Coordinator will send more information to the index case or parent/guardian.
- We will then invite the index case and available family members to a WEGMC consent clinic for enrolment and to give a blood sample. You will be notified when this happens or if the cases decline.
- If a case is enrolled, you will be asked to provide more details about phenotype.
- Genome sequence results will be discussed at a later Genomics MDT meeting, which you will also be invited to attend. We estimate that this will be at least one year after enrolment.
Please feel free to hand out the following leaflet to patients when introducing the 100,000 Genomes Project: WEGMC 100k Genomes Project leaflet. This includes local contact information, although it’s important to note that patients must first be confirmed as eligible at an MDT meeting before they will be approached for consent.
This information can be downloaded as a PDF recruitment guide by clicking here: 100k-genomes-project-rare-diseases-recruitment-guide-v4-11-2016