Eligibility for genetic testing
If you have a high-grade serous epithelial carcinoma you are automatically eligible for BRCA1/2 genetic testing. This is because a high-grade serous epithelial carcinoma diagnosis automatically puts you over the significant risk threshold.
If they haven’t already talked to you about it, you can ask your cancer team about testing. Together you will decide whether you are to be referred to a genetics centre or offered a BRCA1/2 genetic test.
A referral to a genetics centre may not be needed if you are being cared for in hospitals that offer BRCA1/2 genetic testing as part of your cancer care.
Hospitals that currently offer this include Hammersmith Hospital, the Royal Marsden (through the Mainstreaming Cancer Genetics Initiative), the Christie and Addenbrookes. In these hospitals you may be asked whether or not you would like to have a BRCA1/2 genetic test by a nurse, doctor or other healthcare professional. Contact your local hospital to find out if they offer BRCA1/2 genetic testing. The West Midlands Regional Genetics Service is also running a similar pilot with hospitals in that region so please discuss with your medical team.
If you are to be BRCA1/2 genetic tested, NICE guideline CG164 1.5.2 recommends pre-test counselling. This allows you the opportunity to discuss the potential risk and benefits of BRCA1/2 genetic testing, the chances of finding a mutation, the implications for you and your family, and the different types of test results.
You should also have the chance to ask questions to help you make the decision about whether or not you wish to have BRCA1/2 gene testing.
For links to NICE guidelines and template letters to help you, see our resources page.
How will my BRCA1/2 status affect my treatment?
It’s useful for your oncology team to know if you have a BRCA1/2 gene mutation so they can take it into account when considering options for your treatment and/or clinical trials.
Currently women with a BRCA1/2 gene mutation are given the same chemotherapy treatment as women without a genetic predisposition and, in some cases, this treatment can be more beneficial to carriers of a BRCA1/2 gene mutation.
For example, BRCA1/2 gene mutation carriers with ovarian cancer receiving standard platinum treatments have higher response rates and longer times to relapse than women with non-hereditary ovarian cancer.
Studies are currently researching how BRCA1/2 gene mutation related tumours respond to both standard treatments and to new agents that are designed specifically to target the BRCA1/2-mutated cancer cells.
In 2016, a drug called Olaparib was approved for women with a BRCA1/2 gene mutation facing a second recurrence of ovarian cancer. This new class of drug, known as a PARP inhibitor, can delay the progression of the disease by up to two years.
Once standard treatments have been tried it’s possible that your oncologist will recommend you for a clinical trial. It is also possible that there may be a clinical trial available that is specifically tailored to women with a gene mutation.
It is important to note that availability of these trials is patchy so you will need to discuss options with your oncologist.
You can also look online for current trials at clinicaltrials.gov
These are NHS England guidelines (also followed in Wales). For specific information about genetic testing in England, Wales and Scotland, please see the applicable download below.
- Acting on BRCA: I have ovarian cancer (England and Wales)
- Acting on BRCA: I have ovarian cancer (Scotland)
If you have any questions please contact Jo@ovarian.org.uk.