Genomics

The NHS Genomic Medicine Service aims to enable the NHS to harness the power of genomic technology and science to improve the health of our population.  As part of this, the NHS is committed to being the first national health care system to offer whole genome sequencing as part of routine care, including for all children with cancer or children who are seriously ill with a likely genetic disorder.

Each region has its own Genomic Medicine Service which includes a Genomic Laboratory Hub, where all tests are carried out.  There are two laboratory hubs in the South West; one in Exeter and one in Bristol. Each hospital can access testing via one of these laboratories.

Cancer occurs when changes in a person’s genome – their DNA – results in cells growing and dividing uncontrollably. Some cancers result from exposure to environmental factors, such as smoking, UV light and radiation or they can be entirely random. Other types of cancer can be inherited and runs in families.

Genomic testing is increasingly being used to inform and help you and your healthcare professional to understand:

• Why you developed the cancer

• The type of cancer you may have and how it may behave

• Which treatments may be most effective for your cancer

• If you are at risk of developing other cancers in the future

• Whether your family members might be at a higher risk of developing cancer

If you are eligible for NHS ‘Cancer’ Genomic Testing, your healthcare professional will discuss this with you and explain what will be involved if you decide to give your consent to go ahead. if you decide not to have a genomic test, you will still get the best possible health care.

Common questions

What is a genome?

Our bodies are made up of cells. Each cell contains genetic information that makes us all unique written in a code called DNA.  This works like a computer programme that tells each cell in your body what to do and how to do it. Your genome is a complete set of these instructions. Science has now developed enough for us to be able to read this DNA information to help our understanding of tumours and cancer.

What happens in a genomic test?

If you decide to have a genomic test, your healthcare professional will discuss this with you. Samples of your tumour (bone marrow if you have a blood cancer), blood, or skin may be sent to our regional Genomics Laboratory Hub for testing.

Your genomic test results

Once your cells have been looked at, the results are returned to your healthcare professional who will share the results with you. This may take a few weeks. The result may give important information about your condition and treatment. This test is about your cancer and it does not look for changes in DNA that may cause other health conditions. There is a small chance it may also show whether you have a higher risk of getting further cancers and if these risks may affect other family members. In this case, you can discuss your results with a genetics specialist who will talk to you about your results and how to manage any risks there may be for other family members. They will also help you to think about how to talk to your family members about your result.

Patient Information Resources

CCLG Whole Genome Sequencing for Children [PDF] - CCLG

Whole Genome Sequencing for suspected cancer [PDF] - NHS England

www.mysunrise.co.uk - Cancer Companion App

What is whole genome sequencing? [YouTube] - Genomics England

Want to know more?

If you would like to know more about genomics, please contact the South West Genomic Medicine Service: