What happens after testing?

What happens after recieving a positive BRCA test result? 

Anyone who tests positive for a BRCA mutation is eligible for NHS genetic counselling and risk management interventions. 

  • Genetic counselling – this allows an individual to understand what their results mean, what their risk management options are what benefits, risks and implications come with these. 
  • Risk management options – help an individual to manage their cancer risk by either catching the cancers earlier when the prognosis is likely better or reducing the chance of BRCA-associated cancers developing altogether. There are also options for couples in which one partner has a faulty BRCA gene to avoid passing on the gene to their children. All these are covered in further detail below. 

Those testing via the NHS Jewish BRCA Testing Programme receives initial genetic counselling via the programme’s helpline. The programme’s genetic counsellors also refer the individual to their regional NHS genetics centre for further consultation and ongoing management. 

Those who test via their regional genetics centre will continue their journey with the same department. Those who test privately should speak to their private clinician or GP about a referral to their regional genetics service, in order to initiate their risk management journey.  

Support is also available from Jewish community and national organisations. They can help with extra information, advice, emotional support, peer-to-peer support and other services. You can read more about these here. 

Risk Management Options for Women 

The risk management options available to women with a BRCA gene mutation are listed below according to cancer type.  Any women receiving a positive BRCA test result is able to discuss these options in much more depth with a genetic counsellor/clinical geneticist as well as other relevant specialists.  

  • Lifestyle changes e.g. eating a healthy well-balanced diet, doing regular exercise, maintaining a healthy weight, moderating alcohol intake, and not smoking  
  • Enhanced breast awareness and regular self-examination – this may help to catch tumours earlier before symptoms develop.  
  • Medication –  drugs such as tamoxifen or anastrazole are offered to women with BRCA2 gene fault. These reduce the risk of estrogen receptor positive (ER+) breast cancer. 
  • Enhanced breast cancer screening– this starts from the age of 25-30 and involves annual MRIs and Mammograms. The aim is to catch a tumor earlier, when it is easier to treat. 
  • Risk reducing surgery – this involves a bilateral mastectomy (removal of tissue from both breasts) and reconstruction and massively reduces the risk of cancer developing 
  • Lifestyle changes–  as above 
  • Risk-reducing surgery – the ovaries and fallopian tubes are removed, massively reducing the risk of ovarian cancer from developing. The surgery is typically not offered before the age of 35 as that is usually when the risk of cancer begins to rise. Surgery should only be undertaken once the family is complete. 
  • PROTECTOR Trial – As removal of ovaries at an earlier age can lead to early menopause, a new two -step operation to remove the fallopian tubes first, followed by the ovaries at a later stage, is available in a research study, called PROTECTOR, to reduce ovarian cancer risk. 
  • The NHS does not currently offer ovarian cancer screening. Although screening can detect cancer earlier, this has not yet been shown to saves lives. This issue is currently being reviewed by NICE and updated advice will follow in Spring 2024.  
  • There is good evidence that the contraceptive pill can reduce ovarian cancer risk. However, it may increase breast cancer risk. This should be discussed with a gynecologist with expertise in this area.  

It is important that a women considers these options in relation to her family planning/ reproductive wishes. The NHS specialists she meets will guide her in this process. 

  • Lifestyle changes – as above  
  • Enhanced symptom awareness – this may help diagnose cancer earlier  
  • The NHS does not currently offer pancreatic cancer screening as no effective cancer screening method has been found. There may be screening trials available for individuals with a gene gault to participate in. Details will be provided by the patients genetic counsellor.  

Risk Management Options for Men

The risk management options available to men with a BRCA gene mutation are listed below according to cancer type. Like with women, any man receiving a positive BRCA test result is able to discuss these options in much more depth with a genetic counsellor/clinical geneticist as well as other relevant specialists. 

  • Lifestyle changes e.g. eating a healthy well-balanced diet, doing regular exercise, maintaining a healthy weight, moderating alcohol intake, and not smoking  
  • Enhanced breast awareness and regular self-examination – this may help to catch tumours earlier before symptoms develop. 
  • PSA testing – Males with a BRCA2 mutations may be recommended to undergo annual PSA testing from the age of 40. This can be arranged via the GP. Men considering PSA testing should discuss the pros and cons of the test with the GP before going ahead. You can read more about this here.  
  • Prostate cancer screening trials – these are available for individuals with either a BRCA1 or BRCA2 mutation. An example is the PROFILE Study which offers screening to men with BRCA1 and BRCA2 mutations from the age of 40. The patients’ genetic counsellor will be able to provide more information.  
  • Lifestyle changes – as above 
  • Enhanced symptom awareness – this may help to diagnose cancer earlier.  
  • The NHS does not currently offer pancreatic cancer screening as no effective cancer screening method has been found. There may be screening trials available for individuals with a gene gault to participate in. 

Reproductive Options to Avoid Passing on a BRCA Mutation

For couples in which one partner has a BRCA mutation, there is a 50% chance with each pregnancy that the child will inherit the mutation. Therefore they may wish to explore their options to avoid passing on the mutation to their children. Other couples may choose to conceive naturally and allow their children the option of testing in adulthood. Both approaches are valid, and each couple needs to decide what is best for them.  

The options for couples who do wish to take steps to prevent their children inheriting a BRCA gene mutations include:  

PGD involves undergoing the fertility treatment IVF (In-Vitro Fertilisation), but with the extra step of genetically testing the embryos before they are implanted back into the womb. Only the embryos which have not inherited the mutation are implanted.  

BRCA carriers who are interested in exploring these options should discuss this with their genetic counsellor or clinical geneticist. 

More Support 

In addition to NHS genetic counselling support, extra support is available to individuals with a BRCA mutation. This ranges from information, advice and emotional support and is available from Jewish community and national organisations. The find out more click the button below. 

Click here