BRCA testing: What, Why & How
What is BRCA gene testing?
BRCA gene testing is carried out via a blood or saliva sample. A sample is taken and then sent to the lab where DNA is extracted and checked for faults in the BRCA1 and BRCA2 genes.
Individuals considering testing must have access to responsible and comprehensive pre-test information or genetic counselling.
After testing, those identified as having a BRCA gene fault should be supported by a genetic counsellor, clinical geneticist or health professional with expertise in this area, in exploring the options available to them for cancer risk management and or family planning
Why take part in BRCA gene testing?
Individuals who have a faulty BRCA gene are at increased risk of developing cancer. Particularly, women with a BRCA gene fault are at increased risk of breast and ovarian cancer and men at increased risk of prostate cancer (click here to see these elevated risk statistics in more detail).
Women and men who are aware they have a fault are able to explore options available on the NHS to manage and reduce their increased cancer risks. These options enable them to either catch cancer earlier, when the prognosis is better, or reduce the risk of developing cancer all together. More detail on the management options can be accessed from here.
BRCA gene testing allows individuals to find out if they have a BRCA gene fault, in turn providing access to risk management opportunities. Without testing, those with a BRCA gene fault aren’t able to take the steps to reduce their chance of getting cancer.
Deciding to get BRCA gene testing
Deciding to get BRCA testing is entirely personal. Each individual needs to assess whether they want to get tested and when. This decision will be based on several factors such as personal and family circumstances, age, stage of life, personal approach and religious considerations.
To make a fully informed decision, each individual needs to take time to consider the following:
- Potential options if you are found to have a gene fault – what are the options available to you? Which options are suitable for you, at this stage in your life? How would you use the knowledge that you have a gene fault?
- Whether the timing is right for you to take a test – what are your personal and family circumstances? Have you started or completed your family? Will finding out you have a BRCA gene fault impact other aspects of your life at this time, and is this something you’re okay with? At your age, what risk management options are available to you?
- What a positive would mean to you and how it may impact you emotionally – Would you feel anxious with the news of having a gene fault and elevated cancer risk? Would you feel relief knowing you can now take steps to manage and reduce your risk or prevent cancer? Would you be stressed or worried about the challenges associated with risk management? Would you feel empowered to take action and improve your health? Would you feel a whole mix of emotions and what would these be? How might your feelings change over time?
- How a positive result would impact your relatives – How do you think your relatives would respond to the news if you received a positive result? What are the benefits that will come from sharing the results with your relatives? What challenges might come up? What are the dynamics like in your family?
- What a positive result would mean if you are planning a family – Have you started or completed your family? Would you consider using alternative reproductive options to avoid passing on the gene fault to you children, such as PGD (preimplantation genetic diagnosis)? Would you prefer to complete you family before undergoing testing and potentially managing your increased cancer risk? Would knowing the test result help plan when you decide to have a family and contraceptive choices?
There is certainly no right or wrong response to any of these questions and each persons answers and outlook will be different. In fact, one person’s reason to not test, or delay testing, may be another person’s reason to go ahead. Each individual needs to make an informed and personal choice.
For those considering testing via The Jewish Community’s NHS BRCA Testing Programme (details below), there is a genetic counselling helpline available for individuals to explore these considerations with a trained professional. Chai Cancer Care can also provide counselling to support individuals deciding to get tested. Find out more about these resources here. Other BRCA-related information and support resources can be found here.
How to access BRCA gene testing
1. The NHS Jewish BRCA Testing Programme (England only)
BRCA testing is now available on the NHS for any individual aged 18 or over living in England with 1 or more Jewish grandparent (of any sub-type of Jewish ancestry) via ‘The Jewish Community’s NHS BRCA Testing Programme’. To find out more and sign up for the programme click here. To read about why this programme has been launched, click here.
2. NHS BRCA testing for individuals with strong family history of BRCA related cancers (England)
If you have a strong history in your family of individuals with the BRCA-related cancers, you may be eligible for NHS BRCA testing via your regional genetic centre. If you think you are eligible, speak to your GP. They will refer you to regional genetics if you seem to meet the eligibility criteria.
The testing offered at your regional genetic centre may be more comprehensive (i.e. several genes tested as well as BRCA1 and BRCA2) than that offered via the programme discussed via The Jewish Community’s NHS BRCA Testing Programme, which is limited just to the BRCA1 and BRCA2 genes. This is because there is a chance that the strong cancer history in your family could be caused by a heritable fault in another cancer-associated gene. Extended testing would either confirm or rule this out.
3. NHS BRCA Testing for those living outside of England
Currently the eligibility criteria for NHS BRCA testing outside of England are more restrictive than the criteria for testing via the new NHS England Jewish BRCA testing programme (as above).
Individuals with Jewish origin living outside of England are not able to access BRCA testing based on their ancestry alone, and must be able to demonstrate person or strong family history of the BRCA related cancers.
If you do have a personal or strong history in your family of the BRCA related cancers we recommend discussing this with your GP. They may refer your for testing if appropriate. Alternatively you may wish to explore private testing options (see below).
4. Private testing for BRCA
There are private options for BRCA gene testing. These vary greatly in the cost and services that they provide. If opting for private testing, we strongly recommend using a service that includes genetic counselling.
Please contact Jnetics on 020 8123 5123 or email@example.com if you would like to be signposted to a private BRCA testing service.