Frequently Asked Questions
Genomics is the study of someone’s genetic code (also known as genes or DNA). Genomic testing can help with the diagnosis of some diseases and could lead to personalised treatments.
A genome is every letter of someone’s DNA – more than 3 billion in total. This includes thousands of genes. Genes act as instruction manuals for our body for things such as hair colour, hair and nail growth and fighting infections.
More than 99% of someone’s genome is identical to everyone else. However, that still means there are more than 3 million differences between us.
Many of these differences don’t matter, but some can have a significant affect on our health.
A genomic test analyses part or all of an individual’s genetic material to look for features that may explain a clinical condition. These features may include differences in the unique sequence of DNA letters, missing chunks of DNA, additional chunks of DNA or DNA sequences that are not in the correct order.
The national Genomic Medicine Service is made up of seven Genomic Laboratory Hubs and Genomic Medicine Service Alliances.
The service aims to ensure all patients across England have the same access to testing. A national Test Directory provides information on which tests are available and who they are available for. Research in genomics is expected to lead to the introduction of new tests in the future.
Key benefits of the Genomic Medicine Service are expected to include personalised medicine with individual treatments for individual patients as well as faster diagnosis for people with a rare disease or cancer.
In most instances, having a genomic test will not affect the personal health insurance someone has. You do not usually have to tell insurers that you are having a genomic test. You may have to disclose this information on an application form if you are applying for new insurance.
If you already have insurance cover in place, you do not have to disclose any further information to your insurer. More information is available on the Genomics England website.
Genomic tests must be ordered by clinicians. Eligibility criteria must be met. This information is available on the Genomic Test Directory. The Test Directory covers all genomic tests that are commissioned by the NHS.
This will vary considerably depending on the test. All tests have a nationally agreed turn around time (how long it will take from the sample being sent off to patients finding out their results). Patients will be given more information on this during their pre-test discussion.
The results of a genomic test can mean a number of a number of things. This could include a diagnosis, most commonly for a rare disease. It could also provide information on how a condition could develop in the future and potential treatment options, both now and in the future.
A diagnosis will usually be followed by information on support groups that a patient and family members can join.
Finally, genomic tests can provide information on the likelihood of other family members developing the same condition. Advice on screening or treatment options will be provided.
Although everyone who has a genomic test will receive results, this does not mean that everyone will receive a diagnosis and/or personalised treatment plan. A negative test result means that the tests were not able to provide a diagnosis. It does not mean there is no genetic link to the condition. Genomics is a relatively new field and it is possible that as techniques improve and knowledge grows, the genomic sample could be reanalysed and a positive result (whether that is a diagnosis or alternative treatment) can be provided.
Your results could be seen by any NHS staff directly involved in your care (this includes your GP and the person who ordered your test). Staff at the laboratory who analysed your test will also be able to see your results.
In the first instance, you should speak to your clinical team.
Data will be stored both by the laboratory who carry out the genomic test and on a patient’s health records at the hospital they are being seen at. Personal data will always be protected.