Genomic testing finds changes in genes that can cause health problems. It’s mainly used to diagnose rare and inherited health conditions and some cancers. Tests are separated into different categories as shown in the National Genomic Test Directory.
Genomic testing is becoming increasingly mainstream in the NHS, with tests being ordered across rare disease and cancer as well as for pharmacogenomic purposes. Genomic testing is centrally funded by NHS England, and as such NHS trusts do not need to pay for tests.
Clinicians who order a genomic test are expected to ensure the patient, carer or family member knows the purpose of the test and what the results may mean for them. The Royal College of Physicians have developed guidelines on Consent and Confidentiality in Genomic Medicine.
Healthcare professionals may also have some questions on genomic testing in Central and South. Below are the answers to some common questions; if you have a question that’s not covered by the below, please contact us.
Will Trusts have to pay for genomic tests?
No. Every test listed in the National Genomics Test Directory has been commissioned by NHS England. This means referring Trusts will not be charged for these tests, as long as eligibility criteria for the test is met.
Who is eligible for a genomic test?
Eligibility criteria for genomic tests are detailed in the National Genomics Test Directory.
Who can order a test?
Only healthcare professionals are able to order a genetic test on the NHS.
How do I request a test for my patient?
All genomic and genetic tests are now ordered through Genomic Laboratory Hubs.
The National Genomic Test Directory provides eligibility criteria for test as well as advice on who can request tests and the process for ordering tests. The Directory is updated on an annual basis and is available to view on the NHS England website.
The Genomics Education team have also created GeNotes, a library of information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway. Visit the GeNotes website.
More information on how to order a cancer test is available here.
More information on how to order a rare disease test is available here.
Where are samples sent to?
Most genomic tests are provided by a Trust’s designated local Genomic Laboratory Hub according to their geographical location. For some specialist tests, samples may be forwarded onto another GLH for testing. This will not affect the referral process or the return of results.
If my patients have concerns about data, what should I say?
All data used for genomic analysis is kept secure and confidential. More information is available on the NHS England website.
The results of a patient’s genomic test will be added to their patient record.
It is normal practice in the NHS to store the DNA and/or RNA extracted from a sample even after the current testing is complete, as it may be used for future analysis and/or to ensure 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 undergoing whole genome sequencing 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.
Are clinicians required to interpret the results of genomic tests?
No. Most of the analysis of samples will be done by scientists and laboratory staff at the GLH. They will provide a clinical report for the clinician who referred the test. For some tests, including Whole Genome Sequencing, clinical input may be needed to interpret the results. This may mean some clinicians are invited to attend a local or regional MDT.
It is recognised nationally that clinicians experience and confidence in interpreting genomic test reports is likely to vary widely. As genomics moves into routine clinical care, it is expected this will improve. As part of this, Health Education England have established a Genomics Education Programme which includes resources and courses to help educate and train staff. Central and South Genomics will also deliver training and education to staff across our region. More information on this will be provided shortly.