It is vital for us all to work together to ensure that the NHS genomic medicine service provides the most efficient and effective support for patients.
Recently, we shared guidance on making efficient referrals for genomic testing. A review within our labs has now identified that testing for familial hypercholesterolaemia (FH) is an area where particular care is needed when making referrals.
We have prepared the guidance below to help you when referring patients for testing:
- Clearly provide patient details and a complete and correct report to email, where results will be sent.
- Always consult the national genomic test directory (opens in a new tab) when making referrals. Eligibility criteria can change. We will make effort to notify you of changes when they happen and to outline them on our updates webpage.
- Include complete clinical details to show the patient is eligible for testing. This must include a Simon Broome (opens in a new tab), FH Wales (opens in a new tab) or Dutch Lipid test (opens in a new tab) result that indicates possible FH. Note: Clinical information is necessary for our clinical scientists to interpret and report test results.
Diagnostic testing
If a patient has no known relatives diagnosed with FH, you should request diagnostic testing. Please use the left-hand box of the ‘Genomic Test Required’ section of the FH test order form:
Cascade testing
If referring relatives of a patient with a confirmed genetic diagnosis of FH, you should request cascade testing. These tests are processed differently within the lab and it is important to indicate that there is a known genetic diagnosis in a family for correct information to be given to family members. Please use the right-hand section of the ‘Genomic Test Required’ section of the FH test order form:
We are only able to process tests for patients that are eligible for testing in accordance with the National Genomic Test Directory. Therefore, you must provide appropriate information to support a patient’s eligibility.
If we are unable to process your referral, you will be notified by the lab that DNA from samples has been extracted and stored. We will only proceed with testing once we have suitable evidence that the patient is eligible.
For additional support on making referrals please see our FH information zone webpages, or join our FH Genomics Community of Practice.
We will have a dedicated session on Thursday 11 September at 1pm on What makes a good genomic test referral? Practical support and guidance on FH genomic testing. Please register your free place here. (opens in a new tab)
