We have worked with patients and their families to develop some questions and answers that we hope are helpful to those who are either considering having a genomic test, or are perhaps awaiting the result of a test.
If you already have a diagnosis and need more information on your specific condition, there are some details on other organisations and websites that might be useful at the bottom of this page.
What is genomics?
Genomics is the study of genetic information (our genes, or DNA). It can help diagnose diseases earlier and more accurately, and often reduce the need for some medical procedures and enable tailored treatments.
What are the benefits of a genomic test – for the patient and their family?
Results from a genomic test can provide a specific diagnosis, for example a rare disease which is little known to clinicians, or the particular type of cancer that a patient has. It can explain to a patient and their family why their condition happened. Results may help provide accurate knowledge of how the condition might develop in the future and the treatment options available.
If it does confirm a diagnosis it is likely there would be support groups – potentially with others who have the same condition - that a patient and/or their family could connect with.
Families may also be able to find out whether other family members will get the condition and be offered screening or treatment to prevent it. It may provide information that is useful should a family want to have more children.
By knowing why a rare disease or cancer occurs, it can give psychological closure to parents who are experiencing guilt that they may have done something during pregnancy to cause the condition, which ultimately could not have been prevented, nor often predicted.
Can anyone have a genomic test?
You need to be referred for a genomic test by a doctor. Each test has its own criteria (i.e. what patients are suitable); these are set nationally and included in the National Genomic Test Directory.
What is the National Genomic Test Directory?
The National Genomic Test Directory outlines the full range of genomic tests that are funded by the NHS in England.
The Test Directory sets out which tests are available and the patients who are eligible to access a test.
What genomic tests are available in the Eastern region?
We offer a wide range of genomic tests for cancer, rare and inherited diseases and haematological malignancy (which includes blood cancers) and are constantly working to expand our offering and provide additional tests.
Like all Genomic Laboratory Hubs within England, we are currently working towards full implementation of the National Genomic Test Directory. This has been completed for rare diseases, though further work is required for cancer tests during 2021 and 2022.
When will I receive my results?
Depending on the test and the urgency required, the test report can take days, weeks or months. Each test has a nationally agreed turn around time. You should be informed when you consent to the test how long the results will take.
What will my test result show?
Your clinician will receive a comprehensive test report from the laboratory which follows national guidelines; they will arrange a meeting with you to give you feedback from the report as soon as possible.
Depending on the type of test, it would include the key genomic information and what it means, for example, if a diagnosis has been confirmed.
The report may also contain further information on the likely course of the condition or suggestions for follow-up testing.
There will also be technical details about the particular test that was done which is important reference information for healthcare professionals and laboratory staff.
How does a confirmed diagnosis help?
A confirmed diagnosis can help a patient and their family understand why they have a particular condition (such as rare disease or type of cancer). It can also provide accurate knowledge of how the condition might develop in the future and the treatment options available.
For cancers it can predict the likely behaviour of a tumour, including how fast it will grow and how likely it is to spread to other parts of the body. Results can also help reduce the risk of future cancers for the patient and their family members by making informed medical and lifestyle decisions.
Does genomic testing always give a diagnosis?
Unfortunately there is no guarantee that genomic testing will be able to give a diagnosis. Please see next question.
What does a negative test result mean?
A negative test result means that the tests did not confirm anything genetic to be responsible for the disorder or condition, and a diagnosis is therefore not possible at this time.
It does not mean that we can rule out genetic links to the condition and it may be that we will be able to provide further insight in the future as our knowledge of genetic information improves.
I have further questions about my test. Who should I talk to?
Your healthcare professional should be your main point of contact for any advice. Should you need to find out further information, or require further support, please refer to the various links provided below.
Will my sample and findings be used in future research?
For all tests: your samples and data can be used within the NHS to help in testing other patients, developing new tests, and quality control. This is part of routine service improvement and is not research. If the laboratory becomes aware of any research studies that you might be eligible to take part in, we would try to let your healthcare professional know so that they could talk with you about it and you could decide.
For Whole Genome Sequencing: When your clinician discusses genomic testing as part of your care, you will be asked if you want to donate your sample, genome sequence and health data for research. If you agree, your samples will be stored securely and your data will be added to the National Genomic Research Library which is a secure national database of de-identified genomic and health data managed by Genomics England.
Approved researchers (from academia, NHS, charities, or for-profit companies) can use the samples and data in the National Genomic Research Library to study diseases and look for new treatments. Their research might help you and others now or in the future. You can choose to withdraw from the National Genomic Research Library at any time.
Who else will see my results?
Your results can be seen by healthcare professionals in the NHS directly involved in your care (e.g. the healthcare professional who ordered your test and your GP). The NHS laboratory staff who provided your test can see your results.
Your results can be accessed within the NHS to help in testing other patients, developing new tests, and quality control. However, in such cases it would be the details of the genetic variant that would be of interest, and only minimal personal information that enabled the particular process to take place would be used. For example, laboratories may need to use personal information to link different family members together to make sure they are providing the right test, but audits for quality control purposes would use de-identified results.
De-identified data can be shared among healthcare professionals and laboratory scientists nationally or internationally in order to compare the findings from patients with similar symptoms or genetic variants, which can help to determine which genetic variants may or may not be linked to a particular condition. When this is done, patient identifiers (name, date of birth, address) are removed.
Is there further information on Whole Genome Sequencing?
NHS England have produced some information for patients and their families on Whole Genome Sequencing tests; this is also available in a few different languages. These can be found here.
Other useful websites if you are looking for more information on specific conditions
If you already have a diagnosis and need more information on your specific condition, the following organisations and websites should be able to help you:
- NHS.uk is useful for further information on the many types of conditions including cancer.
- If you or someone you care about has been diagnosed with cancer, there are many organisations who can help. Macmillan and Cancer Research UK can provide support in a range of ways.
- Rare Diseases UK – work on a variety of issues that families and individuals with genetic conditions face. We aim to provide information, support families and influence the services needed by these patients.
- Genetic Alliance UK - an alliance of 180 patient organisations, many of which are condition specific UK charities and support groups who exist to support children, families and individuals. They are the experts in understanding their specific conditions and at providing the support that you need.
- Unique - is a charity supporting, informing and networking with families living with rare chromosome disorders and single gene disorders associated with learning disability and developmental delay
- Cambridge Rare Disease Network- run a community group for those affected by rare disease in the Cambridgeshire/Eastern region
If you do not yet have a diagnosis, or your genomic test does not provide one, SWAN UK can provide support.