Breast cancer genetic testing pathway

The NHS has a national genomic laboratory service delivered through Genomic Medicine Services (GMS) which supports the delivery of the National Genomic Test Directory. This network improves standardisation of genomic testing and ensures equity of access for patients diagnosed with cancer in the Thames Valley.

The National Genomic Test Directory for solid tumours and rare/inherited disease went live on the 1 April 2021. The directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access a test. You can find the directories here: www.england.nhs.uk/national genomic test directories.

Following the National Test Directory criteria, local multidisciplinary teams are now able to request genetic testing for eligible patients diagnosed with breast cancer. This enables quicker diagnosis for patients and supports timely treatment planning. 

A step by step pathway has been developed as a regional protocol to support local teams to request genetic testing, in line with Oxford University Hospitals (OUH) Clinical Genetics Service

  • See Oxford Regional Cancer Genetic ServiceReferral criteria.  Note that unaffected patients (i.e., those without cancer) who meet referral criteria based on family history are referred to Clinical Genetics, where a comprehensive family history is obtained and an individual risk assessment is completed.
Guidelines and leaflets 

If you have a patient who is post-menopausal and at moderate risk of breast cancer, this decision aid explains medication options to lower that risk and supports informed discussions with your healthcare professional: Anastrazole leaflet: Reducing your risk of cancer

Co-produced with patients, this video supports those considering genetic testing.

Created with patients, this video guides people eligible for genetic testing.

Amelia shares her experience with Tamoxifen and her advice for others considering it.

With thanks to Greater Manchester Cancer Alliance