Dr Alexandra J Murray is the Clinical Genetic Doctor and Clinical Lead of the All Wales Medical Genomics Service (AWMGS).

AWMGS is an NHS specialist regional health service to help and support patients in Wales who have genetic conditions, who may be at risk of developing a genetic condition or who are concerned about their family history.

Increasingly in recent years, genetic testing has been used to help guide patient treatment. This is called Precision Medicine or Personalised Medicine. This is most commonly seen in cancer conditions, but is a rapidly growing field of medicine.

There are a number of reasons why patients are referred to the cancer genetics service. Often this is because they are concerned by the number of their relatives that have been diagnosed with the condition.

Unfortunately cancer is very common. The majority of cancers, more than 90%, occur because of a combination of different factors. This may include some genetic factors but also many environmental factors. Fortunately, it is only in a small percentage of families that there appears to an altered gene passing down through the family which greatly increases a person’s risk of developing cancer.

If you’re concerned that this might be the case for you, your local health service can refer you to the AWMGS.

The Familial Cancer team work closely with the Clinical Genetics Cancer Services in order to provide a range of germline genetic tests for inheritable genes linked to the development of cancers. The Familial Cancer Service provides a wide repertoire of specialised services for patients with the following cancers:

– Breast cancer
– Ovarian cancer
– Bowel cancer
– Neurofibromatosis type 1
– Tuberous Sclerosis
– Li Fraumeni syndrome

The Solid Tumour team identifies key somatic (not inherited) changes in genes found in patient’s solid tumours that have strong evidence for use in precision medicine, as well as providing supportive diagnostic and prognostic information. These somatic tests can be carried out on tissue biopsies from the solid tumour, skin samples (for melanoma) or on blood via the extraction of circulating tumour DNA.

The Solid Tumour Service provides testing for:

– Colorectal cancer
– Non Small Cell Lung cancer
– Gastrointestinal cancer
– Melanoma
– Glioma
– Sarcoma
– Breast cancer
– Cholangiocarcinoma

The Solid Tumour Service also offers genetic testing on circulating tumour DNA (ctDNA) which is found in the bloodstream.  ctDNA is DNA that has originated from cancerous cells.