Your questions answered

NHS England has commissioned the delivery of all core tests for rare and inherited disease and cancer with the seven genomic laboratory hubs in accordance with the National Genomics Test Directories (opens in a new tab). Referring Trusts will therefore not be charged for these services when referred to their designated GLH.

The National Test Directories for rare disease and cancer set out the clinical conditions or 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 criteria that sets out which patients are eligible.

The Test Directories can be accessed online National Genomic Test Directories (opens in a new tab)

Tests listed in the National Test Directory (opens in a new tab) are available through the genomic laboratory network. Clinicians should order testing from their regional GLH which will carry out the majority of tests. Please refer to the relevant page for information on how to order a rare or inherited disease, cancer or haemato-oncology test.

Information about discussing genomic tests with patients can be found here. Records of discussions (consent) should be recorded locally except for Whole Genome Sequencing tests, when the East GLH should be sent documentation.

Diagnostic testing for certain conditions will be delivered outside of East GLH. In these circumstances:

• For rare disease, these samples should still be sent to East GLH for processing
• For haemato-oncology, these samples can be sent directly to the relevant laboratory listed using the forms provided

We are currently validating and verifying new tests within the Cancer Directory and these will be rolled out in coordination with local pathology departments.

Our lead scientist for Rare Disease, has produced a video on the National Test Directory for Rare and Inherited Disease (opens in a new tab). Whilst there have been some updates to the Test Directory since this was made, it is still a useful introduction.

Genomic tests will be performed by the Genomic Medicine Service at one of the seven Genomic Laboratory Hubs (or their sub-contractors), to nationally agreed standards.

East Genomic Laboratory Hub (East GLH) has been commissioned to deliver all core tests for rare and inherited disease and cancer in accordance with the National Genomics Test Directories. In addition, East GLH will deliver specialist Endocrinology and Neurology genetic testing and specific pharmacogenomic tests. Our lead laboratory is based within Cambridge University Hospitals NHS Foundation Trust, with local laboratories at Nottingham University Hospitals NHS Trust and University Hospitals Leicester NHS Trust.

You can contact us on cuh.geneticslaboratories@nhs.net

Some tests, for example, those where there is a national pathway, will be sent on to the nationally agreed subcontractor for testing.

All of the nationally commissioned tests have turn-around times set by NHS England.

Currently (as of June 2021), due to an increase in demand for testing some of our results are taking longer than these specified turn-around times. Please do bear with us and we will get results back to you as soon as possible.

We have included our current expected turn around times alongside the times we are working hard to achieve for your information.

Please refer to our sample requirements information if you have any questions on the sample types required for each test.

To achieve the longer term ambitions of the national Genomic Medicine Service and benefit the greatest number of patients, single gene testing is not available for most genes that are tested by sequencing in the GMS. Clinicians should request a panel that will provide the data required. However, you should also note the gene on the referral form in order to allow the laboratory to guide testing.

You will receive a comprehensive test report from the laboratory which follows national guidelines; a multidisciplinary team meeting will be arranged to talk through the findings with you if they are complex or if the laboratory requires more information from you.

The report would include the types of tests used, the key findings and a diagnosis if this has been confirmed.

It is recommended that you talk through the report with your patient and a copy kept in their medical records and shared with them as appropriate.

Due to the volume of samples we receive, we do not currently send confirmation to laboratories once these have been received. However if you are concerned about the delivery of your sample, or require a receipt, please email cuh.geneticslaboratories@nhs.net and we will get back to you as soon as we can.

Whole Genome Sequencing sequences a person’s complete DNA. Whole genome sequencing entails sequencing all coding (exons) and noncoding (intron) nuclear DNA as well as mitochondrial DNA.

The exome makes up only 1.5% of the whole human genome, however all protein coding genes are found in the exome. Since most genetic disorders are correlated with variants in protein coding genes, most physicians and scientists who use sequencing technologies for diagnostic purposes start with an analysis of the exome. Whole-exome sequencing and targeted panels only see part of the story as they focus on reduced areas of the genome. Consequently, for some tests or research projects, whole-genome sequencing may be advantageous.

Please initially refer to our current turnaround times before you contact us. We will keep this information up to date if there are delays with any particular tests.

If you have not heard from us by the expected time stated, please email us on cuh.geneticslaboratories@nhs.net with the following information:

• NHS number
• Patient’s name
• Patient’s date of birth
• Test requested
• Date sent

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place between the local clinician and the patient according to the Consent and Confidentiality in Genomic Medicine guidelines (opens in a new tab).

For all genomic tests, a record of discussion must be retained within the patient record. Model records of discussion forms can be downloaded here.

Clinicians must complete training for the Patient Choice Consent Framework (opens in a new tab) prior to ordering Whole Genome Sequencing (WGS). This is available via our online learning portal cam-pgmc.ac.uk (opens in a new tab)

For WGS, the record of discussion is specific for those tests and should be completed and returned to East GLH.

All data is kept securely and confidentially; patient data is used in line with UK law and NHS policy. More information can be found at www.england.nhs.uk/contact-us/privacy-notice (opens in a new tab).

Results from a patient’s genomic test will become part of their patient record, a copy of which is held in a national system only available to healthcare professionals.

Normal NHS laboratory practice is to store the DNA extracted from a sample even after the current testing is complete. DNA might therefore be used for future analysis and/or to ensure that other testing (for example that of family members) is of high quality.

For Whole Genome Sequencing, the data from genomic tests is entered into a secure national database for the NHS Genomic Medicine Service. This system will store data about the test and results. Only staff with approved access can see this data.

As part of the NHS Genomic Medicine Service all patients will be given the option to contribute their genomic data to a secure library so that approved researchers may access that data in a form that does not identify them. If patients choose to do this then your data will be helping researchers and scientists to develop the treatments of tomorrow.

To find out more about how genomic data can help research please see the Genomics England website: www.genomicsengland.co.uk (opens in a new tab)

The Test Directory is updated annually and is supported by robust scientific evidence and peer review. A National Clinical Reference Group (CRG) oversees future changes to the National Genomic Test Directory. Further information on timings and the process for updating the directory can be found here:

https://www.england.nhs.uk/genomics/the-national-genomic-test-directory/ (opens in a new tab)

Please refer to the following site for this information

Requesting whole genome sequencing: information for clinicians - Genomics Education Programme (hee.nhs.uk) (opens in a new tab)

Please refer to Requesting whole genome sequencing: information for clinicians - Genomics Education Programme (hee.nhs.uk) (opens in a new tab)