Genetic testing, sometimes called 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.
This page is for patients, families, carers, and members of the public who are interested in finding out more about genetic testing and genomics.
Please remember that you need to be referred for genetic testing by a doctor. If you have any questions, talk to your doctor or care team about genetic testing. You can also find out more on the NHS website.
More about genomic medicine
When might I be referred for genetic testing?
You may be offered a genetic test because your doctor thinks you might have a health condition caused by a change to one or more of your genes, or because someone in your family has a health condition that’s caused by changes to genes. Other reasons may include you or your partner having a health condition that could be passed on to your children, or you have a close relative with a particular type of cancer that could be inherited.
A genetic test can help to diagnose a rare health condition, show if you are at higher risk of getting certain health conditions, including some types of cancer, or help inform the care you receive. For example, genetic testing can guide doctors in deciding what medicine or treatment to give you, or whether you’re able to join a clinical trial. It could also help you understand whether an inherited health condition may affect you, your child or another family member, and help you decide whether to have children.
You need to be referred for genetic testing by a doctor. If you have any questions, talk to your doctor or care team about genetic testing. You can also find out more on the NHS website.
What is genomic medicine?
Genomic medicine uses insights from a human’s complete set of DNA (called a genome) to inform their healthcare.
But because people are very different, studying a genome by itself can’t tell you very much. To make sense of it, it’s essential to know much more about the person and their health, as well as their DNA.
Genomic medicine combines these two elements, using the science of genomics alongside information about a person’s health to improve diagnosis and treatment.
You can learn more about genomic medicine by visiting the Genomics England website.
What is Whole Genome Sequencing (WGS)?
Whole genome sequencing looks at all your genetic material at the same time (not just part of it, as with other types of genetic test).
The NHS is introducing whole genome sequencing through the NHS Genomic Medicine Service.
What is the Genomic Medicine Service?
In March 2017, the NHS England Board set out its strategic approach to build a National Genomic Medicine Service (GMS), building on the NHS contribution to the 100,000 Genomes Project. The overall aim of the GMS is to ensure equitable access to all forms of genetic testing, timely return of results to patients and clinical teams and use of genetic results to improve healthcare
How is the GMS structured?
The GMS brings together organisations with a mandate to support delivery of a world class genomics service; seven regionally based Genomic Laboratory Hubs deliver testing as outlined in the National Genomic Test Directory and seven regionally based Genomic Medicine Service Alliances support the GLH with a focus on the increasing uptake of genomic services by clinical teams and patients accessing NHS services.
What is the South West Genomic Medicine Service?
The South West Genomic Medicine Service (SWGMS) is one of the seven regionally based initiatives, covering a large population from Gloucestershire to Cornwall covering six Integrated Care Boards.