This tool is produced by the National Disease Registration Service, and contains information on whether patients who are eligible for genetic testing after a cancer diagnosis are reported as tested for germline BRCA mutations. The data is broken down by factors such as geographical region (Cancer Alliance and Genomic Laboratory Hub), age band, ethnicity, deprivation quintile, stage at diagnosis, and eligibility criteria as defined by version 6 of the National Genomic Test Directory (NGTD).
A recent meta-analysis [1] 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 of them and their families developing breast or ovarian cancer [2]
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 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.
[1] https://www.annalsofoncology.org/article/S0923-7534(24)01014-7/fulltext
[2] https://www.gimjournal.org/article/S1098-3600(24)00164-3/fulltext
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 (NDRS), which is part of NHS England.