Ensure people whose parent had breast cancer under 45 can access genetic testing

Update NHS genetic testing eligibility so that people whose parent was diagnosed with breast cancer before age 45 can access inherited cancer gene testing if the affected parent is deceased or unavailable for testing.

My mother was diagnosed with breast cancer at 42 and died at 51. I asked several times for genetic testing due to my family history but was refused because there was not considered to be enough family history information. I am now 38 and have been diagnosed with triple-negative breast cancer and have only now been offered genetic testing. People should not be denied testing simply because family history information is incomplete due to bereavement.

The Government has the utmost sympathy for anyone who has lost a loved one to cancer or who has received a cancer diagnosis themselves.

Genomic testing in the NHS 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 and over 200 cancer clinical indications. More information is available at the following link: https://www.england.nhs.uk/publication/national-genomic-test-directories. The Test Directory sets out the eligibility criteria for patients to access testing as well as the genomic targets to be tested and the method that should be used. Testing is available for all eligible patients across the whole of England.

To keep pace with scientific and technological advances, while delivering value for money for the NHS, a robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit.

The Government is unable to comment on individual cases, as decisions will be made by an individual’s clinical team, and can only provide general guidance based on the eligibility criteria for genomic testing as outlined in the National Genomic Test Directory. In the case of an unaffected individual, the criteria for testing under clinical indication R208 (inherited breast cancer and ovarian cancer) is:

Living unaffected individual with: a. First degree relative affected by breast or serous ovarian cancer, AND b. Combined pathology-adjusted Manchester score ≥20 or BOADICEA/CanRisk score of ≥20% for affected relative or BOADICEA/CanRisk score of ≥10% for unaffected relative AND c. No living affected individual is available for genetic testing, AND d. No deceased affected individual with tumour material is available for testing.

Therefore, individuals who meet the eligibility criteria based on their family history should not be denied testing if the affected relative is deceased or unavailable for testing. The risk of inherited cancer needs to be assessed and calculated, and individuals should discuss with a healthcare professional whether genomic testing is appropriate for them. The healthcare professional will then decide 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.

As outlined in the 10 Year Health Plan for England, the Government agrees that genomic testing delivered via the NHS Genomic Medicine Service should be expanded for inherited causes of major diseases to allow earlier detection and intervention, including in cancer (e.g. BRCA1/2 genes). This will be achieved by expanding the existing NHS Genomics Medicine Service to create a new genomics population health service, accessible to all by the end of the decade.

Department of Health and Social Care