Genomic Testing
Back to Home

NHS colleagues can order tests for patients from the National Test Directory via the Genomic Laboratory Hub.

Genomic testing in the UK is delivered through a single network.  You can find out more about the NEY Genomic Laboratory Hub (GLH) and the wider network here.

In this section, you can find out more about genomic tests and how to access them using the left-hand navigation, and access the National Test Directory and answers to frequently asked questions below.

 

National Genomic Test Directory

The GLH has collated a number of frequently asked questions associated about the National Genomic Test Directory and provided responses below.

Frequently asked questions

The Test Directories for rare disease and cancer will set out the clinical indications where there is clear evidence for the value of genomic testing for patients. Each clinical indication included in the Test Directory has a set of testing criteria that sets out which patients qualify for testing.

For some clinical indications, these will focus testing on cases where the likelihood of an inherited condition and clinically actionable findings is higher than is currently required by some local practice.

As the evidence base develops then the scope of the Test Directory is likely to expand to cover other areas, such as pharmacogenomics (how patients’ genomic variation affects how they respond to the medicines they are given).

The National Test Directory sets out the tests that are available through the genomic laboratory network. Clinician’s must order core rare disease and cancer testing from their regional GLH.

If you are a clinician within the North East and Yorkshire geography and wish to access a test, please refer through normal processes to your local Yorkshire and North East Laboratory.

Diagnostic testing for a number of very rare diseases will be delivered by a smaller number of GLH’s that have expertise within a given clinical area. For access to these tests please refer to your local GLH laboratory and the GLH network will signpost testing to the correct centre.

Genomic testing for NHS patients will be carried out at genomic laboratories across the country.

NHS England is consolidating the current NHS genomic laboratories into a single national testing network of seven Genomic Laboratory Hubs working to common procedures and standards.

The genomic testing in the Test Directory is split into two categories:

  • Core genomic tests – high volume tests that will be provided by all Genomic Laboratory Hubs
  • Specialist genomic tests – specialist tests that will be delivered only by the Genomic Laboratory Hubs that have been appointed as a National Specialist Test Provider due to the fact that they have the required quality and expertise

The National Test Directory sets out the tests that are available through the genomic laboratory network. Clinician’s must order core rare disease and cancer testing from their regional GLH.

If you are a clinician within the North East and Yorkshire geography and wish to access a test, please refer through normal processes to your local North East and Yorkshire Laboratory. Any routing of samples between NE&Y laboratories will be managed internally within the GLH.

Diagnostic testing for a number of very rare diseases will be delivered by a smaller number of GLH’s that have expertise within a given clinical area. For access to these tests please refer to your local GLH laboratory and the GLH network will signpost testing to the correct centre.

Currently there is variation in the approach to the commissioning and funding of genomic tests across England, creating inequity as not all eligible patients are currently able to access appropriate testing.

From April 2020 all genomic testing will be funded, through the GLH network, by NHSE with the following exceptions:

  • High cost excluded genetic testing – “6+1” molecular diagnostic testing
  • Genetic testing linked to highly specialised services
  • National genetic screening tests
  • Other tests which are not included in the National Test Directory e.g. pre-implantation genetic diagnosis

Where testing requires additional services from pathology or SIHMDS colleagues, such as tissue preparation or integrated reporting, these costs are funded separately from the genomic testing and will be charged for.