BRCA testing after a diagnosis of cancer

A recent meta-analysis [annalsofoncology.org] indicates that 2.5% of breast cancers are attributable to a germline pathogenic (i.e. harmful) variant (PV) in the BRCA1 or BRCA2 gene. Around 1 in 300 people in the general population harbour a PV in BRCA1 or BRCA2, and have increased risks [gimjournal.org] of them and their families developing breast or ovarian cancer.

The NHS in England now makes provision for BRCA testing to be offered to patients meeting specific eligibility criteria; these are based upon age at cancer diagnosis, biological sex, tumour properties, family history and ethnic ancestry. The agreed criteria are described in the National Genomic Test Directory (NGTD) and include females who develop breast cancer under the age of 40, males with breast cancer, and females with specific types of ovarian cancer. These eligibility criteria are regularly reviewed and are gradually being broadened so that more people can access testing.

The purpose of this  dashboard is to present counts of patients with breast or ovarian cancer who should be offered BRCA testing (according to the NGTD), alongside the equivalent counts of these people who have a record of a BRCA test in the National Disease Registry, so that we can see where there are gaps in the testing landscape.

Users are likely to be from genomic laboratory hubs, Cancer Alliances, academia, and pharma. The data may be sufficient to answer some queries and provide information on BRCA testing rates.

Acknowledgement

This work uses data that has been provided by patients and collected by the NHS as part of their care and support. The data are collated, maintained and quality assured by the National Disease Registration Service, which is part of NHS England.

This release of the dashboard presents counts of patients diagnosed with breast or ovarian cancer between 2016-2020 and eligible for a BRCA test for one of the following reasons, as specified in version 6 of the NGTD ‘Testing Criteria for Rare and Inherited Disease’:

• Breast cancer (age < 40 years)
• Bilateral breast cancer (age < 50 years)
• Triple negative breast cancer (age < 60 years)
• Male breast cancer (any age)
• High grade non mucinous epithelial ovarian cancer (any age)

Some patients who are eligible for a test have already been tested prior to their diagnosis of cancer. This is most likely due to them having a family history of breast or ovarian cancer. For the purposes of this dashboard, these patients are excluded. We also restrict the tested cohort to BRCA tests that have been performed within a year of diagnosis. 

The dashboard reports on whether patients have a record of a BRCA test in the National Disease Registry.  There are known germline data gaps for tests carried out in 2020/2021, where labs have been unable to submit data to the registry.  More details are provided in the dashboard.  Due to these data quality issues, care should be taken when interpreting results, particularly trends over time and geographical variation, and it is preferable to speak of 'patients with no record of test' rather than 'untested patients'.

This is an annual publication released after the end of year snapshots are published in the NDRS’s Cancer Analysis System (CAS) and 12 months of germline data is available as follow-up.

The tool is produced by the National Disease Registration Service (NDRS). Please send any feedback or queries to [email protected] 

Please do not include sensitive or patient identifiable information.

The data used in this publication can be downloaded from each data tab of the dashboard, from the link in the sidebar. The individual figures can be downloaded by clicking the camera icon which appears when the mouse is hovered over the figure. The tables can be downloaded using the buttons above them.

A file containing all of the data used in the dashboard can be downloaded from the 'Introduction' tab of the dashboard via the link "Download all data used in this dashboard". We strongly recommend exploring the BRCA testing dashboard to fully understand the data that we produce.