Re: Genomic Testing for Familial Hypercholesterolaemia (Genomics National Test Directory Code – R134)

Dear Colleagues,

I am writing to advise you that all requests for genomic testing of NHSE patients for familial hypercholesterolaemia (FH) should be sent to your local South East Genomics Laboratory Hub (SEGLH) at Guy’s Hospital.

For some colleagues, this may result in a change to the design of laboratory tests that you receive.

South East GLH (formerly London South GLH) and the new NHSE Genomics Medicine Service:

NHS England are reconfiguring the way genomic and genetic laboratory services are delivered. They have established 7 Genomic Laboratory Hubs to lead this reconfiguration. The South East GLH (SEGLH), a network of leading foundation trusts and pathology providers, has been commissioned to deliver the genomics laboratory service across South London, Kent, Surrey and Sussex. More information about the new NHSE national Genomics Medicine Service and the South East GLH can be found here: https://southeastgenomics.nhs.uk/.

The key requirements of the reconfiguration are to consolidate genomic testing activity across our region and nationally, and to standardise provision of services with a new national genomics test directory. Funding for NHSE patients will be commissioned centrally.

NHSE Genomics testing for Familial Hypercholesterolaemia:

The commissioned test for FH currently includes analysis of variants in the following five genes; APOB, APOE, LDLR, LDLRAP1 and PCSK9. Polygenic risk scoring (PRS) is not currently available as part of the nationally commissioned service and will not therefore be provided for the time being. For some colleagues, this may result in a change to the laboratory tests that you receive.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under ‘R134 Familial hypercholesterolaemia’.

The genomics national test directory will be updated periodically and NHSE have established a process to ensure that updates have appropriate clinical and scientific governance. In addition, a national specialist working group has been established for FH where PRS is being evaluated for inclusion to the directory.

Referral Pathway:
Viapath is the pathology provider of the South East genomics hub laboratory, which includes testing for FH. A minimum of 3ml of peripheral blood in an EDTA tube is required. Please find attached a copy of the current Viapath genomics test request form.

Once completed all samples and forms must be sent directly to the Viapath Genetics Laboratory.