Breast Cancer: Genetics

Genomic testing in the National Health Service in England is provided through the NHS Genomic Medicine Service and delivered by a national genomic testing network of seven NHS Genomic Laboratory Hubs (GLHs). The NHS GLHs deliver testing as directed by the National Genomic Test Directory, which includes tests for over 7,000 rare diseases with an associated genetic cause and over 200 cancer clinical indications, including testing for genetic predisposition conditions. Further information on the National Genomic Test Directory is available at the following link:

https://www.england.nhs.uk/publication/national-genomic-test-directories/

Genomic testing is available for all eligible patients across the whole of England. Individuals should discuss with their healthcare professional whether genomic testing is appropriate for them. Their healthcare professional will then make a decision whether to refer the individual either directly or via an NHS Clinical Genomics Service or other relevant clinical speciality for genomic testing following clinical review of their and their family’s medical history if known, and the relevant genomic testing eligibility criteria.

Testing for inherited breast and ovarian cancer, where there is a living unaffected individual, is covered in the National Genomic Test Directory under clinical indication R208.

The current eligibility criteria include unaffected individuals who have a first-degree relative with breast cancer or high-grade serous ovarian cancer, where the individual or affected relative meets the relevant risk threshold. Testing is available where no living affected relative is available for genetic testing and no tumour material is available from a deceased affected relative.

The NHS England Genomics Programme and Cancer Programme has also, in recent years, supported the NHS Jewish BRCA Testing Programme, a three-year pilot programme to offer testing to individuals living in England, aged 18 years old or over with at least one Jewish grandparent, regardless of faith, religious practice, or any other criteria.