East Genomics provides genomic testing for rare and inherited diseases, cancer and haematological malignancy in line with NHS approved testing listed in the National Genomic Test Directories.
National Test Directories
The National Genomic Test Directories (opens in a new tab) for rare and inherited disorders and cancer can be accessed through NHS England. They specify which genomic tests are commissioned, the clinical indication for which they apply and hence the patients who will be eligible to access each test. They also detail the technology by which the tests will be delivered. The three parts include:
- National Test Directory for Rare and Inherited Diseases
- National Test Directory for Cancer (including Haematological Tumours)
- Eligibility criteria for Rare and Inherited Diseases – this document lists the clinical specialties who would be expected to request for a given clinical indication and sets out which patients should be considered for testing under that indication.
The directory is updated regularly to ensure access to the latest diagnostics and treatments. Further information on how the directory is updated and how you can put forward suggested changes can be found in our questions and answers.
Non-urgent advice: Questions?
If you have questions about genomic testing available in the East Midlands or East of England, please contact us via our enquiries form or email cuh.geneticslaboratories@nhs.net
Resources for clinicians
Please take a look at our GMSA transformation project pages as many include links to documents and resources for clinicians, including:
- Testing pathways
- Guidance and protocols
- Management guidelines
- Forms/templates
- Links to information for your patients
Clinical and scientific expertise
Our experienced clinicians and scientists are available to support you when ordering tests. If you have a specific question regarding a particular patient please get in touch and ask to be referred to the duty scientist.
You can also submit an enquiry for support from our educational lead to help you learn more about using genetic testing in practice.
What your patients need to know
As a referring clinician, it is your responsibility to ensure that your patient (and their carer) knows the purpose of the test and that their sample may be stored for future diagnostic testing.
An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place according to the Consent and Confidentiality in Genomic Medicine guidelines. (opens in a new tab)
To support this requirement, the patient choice consent framework has been developed. Under this framework, a record of this discussion (see below) must be retained within the patient record when a genomic test is ordered.
Training for the patient choice consent framework is available online:
East GLH Genomics Online Learning Portal – Patient Choice (opens in a new tab)
You will need to complete this training prior to ordering whole genome sequencing.
Record of discussion forms
For all genomic tests, a record of discussion must be retained within the patient record.
Download the appropriate record of discussion form from the webpage relevant to the test you are requesting.
At this time, different tests require different record of discussion forms.
The appropriate record of discussion form can be downloaded from the webpage associated with each test type.