FAQs

Please visit our National Genomic Test Directory (NGTD) page.

The Test Directory can be filtered to make it easier to find tests relating to your specialty. You may find that some tests that you previously ordered now have a different name in the Test Directory. If you are having difficulty finding the relevant test please contact the laboratory: gos-tr.norththamesgenomics@nhs.net.

The National Genomic Test Directory (NGTD) outlines all genetic tests funded by NHS England, and is developed by expert groups including clinicians, scientists, health economists, policy experts, public representatives and patient organisations.

Any genomic tests not included are out of scope of the GLH. The NGTD will be updated annually as evidence arises to suggest the inclusion of new genes. Information about the process for updating the NGTD can be found on the NHS England website.

NHS England have also published a National Genomic Test Directory Frequently Asked Questions (FAQ) document.

The NGTD is updated annually as evidence arises to suggest the inclusion of new genes.  Information about the process for updating the NGTD can be found on the NHS England website.

Applications to request new tests are usually open between June-August each year, and the GLH is happy to support clinicians with their submissions.

In general, it is recommended to send a trio (affected patient plus parents) for WGS. This makes it easier to analyse the variant data and more likely to reach a diagnosis than with a singleton referral.

However, there are many circumstances where parents may not be available and the case can be referred as a singleton or a duo.

Yes. Patients and family members can make a Subject Access Request (SAR) to have their raw genomic data. Clinicians should inform patients that this data would need to be interpreted by a genomics expert and is not presented as a clinical report outlining all genomic changes. The clinician should contact the WGS service desk at gos-tr.wgsnorththamesglh@nhs.net if their patient wishes to make a SAR.

For Rare and inherited conditions, a Germline Sample is required: peripheral blood (2-5ml EDTA), stored DNA, cultured fibroblasts.

For cancer a Germline Sample is required: peripheral blood (2-5ml EDTA), stored DNA, cultured fibroblasts, for haematological malignancies a skin biopsy is required. A tumour sample is also required:

• For Solid tumours: Fresh frozen tissue (at least 1 core biopsy), tumour cells must account for at least 30% of the nucleated cells present
• For haematological malignancies: Bone marrow aspirate, peripheral blood

Proband and both parents is the preferred family structure as adding affected siblings can complicate the analysis. If a pertinent result is found through WGS, targeted testing may be offered to affected siblings, if appropriate.

Clinicians will receive a report once analysis is complete. You may be asked to provide further information or attend an MDT / GTAB before the report is issued.

If the policy was taken out before the patient received their test result, they are not obliged to update their provider on the test and its findings for as long as the cover is in place and remains unaltered. Further information on the patients current and future responsibility towards insurance providers is provided by Genetic Alliance UK and the Association of British Insurers. Code on Genetic Testing and Insurance ABI.

To find out more about which insurance companies are registered with the ABI and subject to the above terms please visit: ABI members.

Analysis for WGS is panel based so please ensure that the correct clinical indication is entered in the Test Order Form so that the right panels are applied. For Rare Diseases, clinicians are able to add additional panels, if appropriate.

Reanalysis is available where there is clinical need and where reanalysis is likely to increase the chance of a diagnosis due to new gene associations, additional clinical information, improved bioinformatics.

Requests for WGS data reanalysis may be accepted as appropriate if the following criteria are met:

There must be a high expectation that reanalysis will yield a diagnosis. For example:

• The change to gene panel content or bioinformatic improvements introduced since the last analysis was performed, is significant so that the probability of achieving a diagnosis is sufficient enough to justify reanalysis. It is not expected that reanalysis will be significantly productive within at least 2 years of the last analysis.

AND

There must be a clinical trigger for the reanalysis. For example:

• There is a new significant change in the clinical presentation of the patient or family member (e.g. evolving phenotype) meaning application of additional GMS approved gene panel(s) would be relevant and updating the HPO terms provided will support more effective analysis in Exomiser;
• New treatment becomes available so reanalysis could influence the patient’s clinical management;
• The proband is deceased and the family initiate further investigation through the appropriate clinician, due to potential management implications for themselves and/or the wider family.

If you consider that re-analysis should be performed please contact the laboratory: gos-tr.wgsnorththamesglh@nhs.net

Patient’s DNA samples should not be sent for resequencing via the current GMS WGS pathway apart from in specific circumstances.

Outlined below are possible exceptions for which it is acceptable to submit patients and their family members for WGS through the GMS pathway:

• Patient submitted to 100,000 Genomes Project as a singleton but it is now possible to test as a Trio (for clinical indications whereby trio analysis is the optimal family structure) and the primary analysis detected lots of potential candidate variants which trio analysis will help to classify.
• There is immediate clinical urgency AND an expectation that a new test would yield a new diagnosis, e.g. The original analysis was done several years ago, the phenotype has substantially altered and a molecular diagnosis is likely to contribute to urgent clinical decisions. The patient can be tested through the relevant test from the GMS National Test Directory (including WGS if clinically eligible).

Yes.