We’re working with patients, their families, and carers to develop some questions and answers that we hope are helpful to those who are either considering having a genomic test, awaiting the result of a test, or are recently diagnosed.

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.

If you have a specific question that is not answered within this section, please contact us using our contact form.

Genomics is the study of genetic information (our genes, or DNA). It can help diagnose diseases, and often reduce the need for some medical procedures and provide information about the most effective treatments for a particular condition. Genetic testing can indicate that a person is at an increased risk for a health condition or can be excluded from that increased risk.

Results from a genomic test can provide a specific diagnosis, for example, a rare disease that is little known to clinicians, or 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, there may 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 are at risk of developing 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.

Knowing why a rare disease or cancer has happened can give psychological closure to parents who may experience guilt that they have done something wrong during pregnancy, that caused the condition which ultimately could not have been predicted or prevented.

Typically, you need to be referred for a genomic test by a doctor but genetic counsellors can also order tests, as can other healthcare professionals. Each test has its own criteria (i.e., what patients are suitable); these are set nationally and included in the National Genomic Test Directory.

If you are concerned that you may have a genetic disorder or be at risk of one, then you should contact your GP.  The GP will be able to refer you to the regional Genomic Medicine Service.  In the North West, these are based in Liverpool and Manchester.




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.

The full list is available to healthcare professionals via the National Genomic Test Directory.

Depending on the test and the urgency required, the test report can take days, weeks, or months. Each test has a nationally agreed turnaround time. You should be informed when you consent to the test how long the results will take.

Your healthcare professional will receive a comprehensive test report from the genomic laboratory hub which follows national guidelines; they will arrange 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 or excluded.

There will also be technical details about the test that was done which is important reference information for healthcare professionals and laboratory staff.

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 knowledge of how the condition might develop in the future and the treatment options available.

For inherited types of cancer, the result can predict if an individual is at risk of other types of cancer and the best treatment options.

If a patient’s cancer tissue is tested, then this result may help the doctors choose the most effective treatment.

Unfortunately, there is no guarantee that genomic testing will be able to give a diagnosis. A negative test result means that the tests did not confirm anything genetic to be responsible for the individual’s health problems, based on the current knowledge available and the type of test that was used.

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.

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.

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 will 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.

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 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 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.

NHS England has 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.

Patient Information for Rare Disease - Easy read

Patient Information for Cancer - Easy read

NHS.uk is useful for further information on the many types of conditions including cancer.


Cancer Research UK and Macmillan

If you or someone you care about has been diagnosed with cancer, there are many organisations that can help for example Cancer Research UK or Macmillan Cancer Support can provide support in a range of ways.




Rare Diseases UK

Provide support, information, and resources on a variety of issues that families and individuals with genetic conditions face.



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.



Liverpool Centre for Genomic Medicine (LCGM) and Manchester Centre for Genomic Medicine (MCGM)

Providing clinical genetic services to patients and their families, who are affected by or at risk of genetic conditions with support from a genetic doctor (Geneticist) or a Genetic Counsellor.




North West Genomic Laboratory Hub (NWGLH)

This is a network of laboratories across the North West providing genetic testing for patients with rare diseases and cancer as part of the National Genomic Test Directory.