Frequently Asked Questions

Resources

The GLH has collated a number of frequently asked questions associated with the changes in genetic services and provided responses below.

National Genomic Test Directory

Who is eligible for testing?

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).

How can a test be ordered from the Test Directory?

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.

Where is the testing going to be carried out?

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 networkof 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.

How will the genomic testing in the Test Directory be paid for?

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.

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory