Testing times for BRCA gene carriers
New commissioning guidance sets out who should be offered gene testing for raised risk of breast and ovarian cancers. The ‘Angelia Jolie effect’ means that more women are asking about screening, and non-specialist nurses need to be aware of the issues relating to gene testing.
‘There really is an Angelina Jolie effect,’ says National Forum of Gynaecological Oncology Nurses president Tracie Miles. ‘More and more women are going to their GP.’
A BRCA cell. People who carry BRCA mutations are at higher risk of developing some cancers
Jackie Harris, clinical nurse specialist for family history and breast health at the charity Breast Cancer Care, adds: ‘We hear from lots of nurses who telephone our support line asking for information about this.’
BRCA genes – short for BReast CAncer – are two genes that repair DNA. Women, such as Ms Jolie, who carry an inherited mutation in either of these genes are at increased risk of developing cancer of the ovary and breast.
Because they inherited this fault from a parent, their siblings could also be affected, as could their children, aunts and uncles. Men who carry BRCA mutations are also at higher risk of developing some cancers and can pass the gene on to their children too.
Understanding these genes opened the door in 1996 to genetic testing and offering affected people counselling about their options for preventing cancer.
Ms Jolie’s mother and grandmother died young from ovarian cancer, prompting her to seek genetic testing. The result was positive and she underwent double mastectomy and removal of her ovaries to reduce her risk of developing cancer.
Despite Ms Jolie’s openness, there is still much confusion among women, professionals and health service commissioners about BRCA testing and the options for reducing risk. The science is moving fast but the services are not keeping up.
Over the past couple of years Dr Miles has ‘lived and breathed’ BRCA, working with a team developing commissioning guidance for NHS England. This was completed in July and sets out clearly who should be eligible for a test – and, by implication, who should not. Fewer than one in 20 cases of breast cancer is caused by a BRCA mutation, while 15-20% of ovarian cancers are BRCA-related.
According to Dr Miles, the issue for most non-specialist nurses is not about criteria for testing or the ‘what next?’ decisions that come with a positive result; it is being able to answer basic questions from patients who have a personal or family history of breast and/or ovarian cancer.
‘People are coming forward with questions,’ she says. ‘They are saying “my mum had breast cancer and I think my granny had ovarian cancer. Should I get a test?” We are hearing it a lot.’
Dr Miles says any nurse who might have these kinds of conversations needs to be aware of developments in BRCA testing. At the very least, they can access online tools to help women assess their own risk (see resources box) and may be able to access online training modules to get up to date with current guidelines and practice.
Women can work through their own family history and assess their own risk using a number of tools.
She points out that it is important to know about BRCA status for a variety of reasons. First, it may change the type of treatment offered to women with cancer. Second, it offers women who have not been diagnosed with cancer the chance to reduce their risks through surgery, screening and lifestyle changes. Third, they can tell family members who may also be affected.
But screening for BRCA mutations is far from simple, says Ms Harris. ‘People think they can go for genetic testing and it will be done straight away,’ she says. ‘But it is not like that.’
If an assessment in general practice or clinical oncology indicates a case for referring an individual to clinical genetics, this sets in train a whole process.
‘The genetics department will work through your whole family history, looking at the blood lines and who had cancer at what age and how they are related to each other and to you. Depending on what that shows, they will assign a risk.’
Near population-level or population-level risk leads to breast and ovarian cancer awareness education and lifestyle advice about healthy eating, smoking cessation and exercise.
In addition, those with moderate risk might be offered more regular breast screening. It is the high-risk individuals – where there is more than a 10% chance of carrying a BRCA mutation – who are offered screening.
Then starts the next layer of complexity, says Ms Harris. Explaining the possible outcomes – which range from positive, true negative, false negative and not clear – and the consequences of a test requires the expertise of a clinical geneticist. Up to half of men and 15% of women who undergo genetic counselling end up declining a test.
Athena Lamnisos, chief executive of the Eve Appeal, which funds research into gynaecological cancers, says too few people at high risk receive adequate counselling.
‘The big problem is the lack of clinical nurse specialists,’ she says. ‘They are the ones who follow you through from the point of diagnosis, through treatment and then testing.
‘Without help from a CNS, too many women end up being passed from pillar to post and risk making decisions that are not right for them.’
Research into the effect of receiving a BRCA positive result is under way. Led by Marc Tischkowitz at the University of Cambridge and funded by Target Ovarian Cancer, the research is looking at whether women receive appropriate pre- and post-test counselling.
Meanwhile, the Eve Appeal is launching a study to find alternatives to risk-reducing surgery, such as that undertaken by Ms Jolie.
If the Angelina Jolie effect has raised awareness, it has also led to the mistaken belief that risk-reducing surgery is the only option for women who test positive for BRCA.
Ms Harris says: ‘It is not the only option. It is not an easy decision and has implications for your everyday life, your family life and your work life. You have to be ready to take these decisions.’
For Sharon Tate, who is head of primary care development for Target Ovarian Cancer, this readiness underscores the importance of offering people who are high risk the information they need at the point they are ready to receive it.
Daloni Carlisle says that the consequences of a BRCA-positive result ‘go on and on’
I asked again when I was diagnosed with uterine serous carcinoma aged 50. The same answer as before – it’s unlikely there is a family link. Cancer is common and anyway, the link between BRCA and womb cancer is unclear.
I was lucky enough to get a referral to clinical genetics where something in my story sparked an interest. My family history did not indicate high risk. The blood test went off and eight weeks later (the standard waiting time) the result came back: a BRCA1 mutation was the probable cause of my cancer.
The statistics look terrifying. I learned that my three sisters had a one-in-two chance of inheriting the mutation, as did my children. With that comes a 60-90% lifetime risk of breast cancer and 40-60% risk of ovarian cancer.
I was treated at Guy’s and St Thomas’ Hospital in London where, I have since learned, they offer the gold standard service.
I had an appointment at the BRCA Family Clinic where I saw the clinical geneticist, the clinical psychologist and the research nurse. A breast surgeon, plastic surgeon, breast nurse and clinical oncologist were also available if needed.
The clinical geneticist was able to help me think through my risk. With my ovaries already long gone as a result of my womb cancer, my risk is around breast cancer. Yes, the statistics look terrifying for lifetime risk, she agreed. But when you look at annual risk for my age, the numbers change. I am now looking at a 1-2% annual risk. Higher than average, but I think manageable with annual screening. The decision to reject risk-reducing surgery was straightforward.
Next we talked about my family. My main concern was whether or how to tell my children. Aged 11 and 15, I thought they were too young to know. The clinical geneticist suggested that secrets are not helpful; someone will spill the beans. Might it be better to make this part of normal conversation?
I worked with the clinical psychologist to think through how and when to talk to them. In the car is, counter-intuitively, a good place. It takes the pressure out of the situation and makes it seem more normal.
Finally, I saw a research nurse who signed me up to a clinical study looking at lifestyle risks and BRCA cancers. It is not the BRCA gene that gave me cancer but environmental influences that caused DNA damage that my poor mutated gene could not repair.
I left with a leaflet about talking to children, which has been put to good use. The conversations went better than expected and we can now work through what it means for them slowly, over time. My sisters now know and I am in the process of tracking down long-lost cousins on my mother’s side who also need to be informed.
Telling my family has been hard. Each of my sisters has said rather too brightly that they are ‘fine’ with the information. But they, like me, will have the knowledge rattling around in their heads for months to come.
It really isn’t simple, having a BRCA-positive result. It’s not just a stone you are throwing into a pond; more like a ruddy great brick. The ripples go on and on.
‘The best model of care includes pre- and post-test support from a genetics service with further support from experts to help those who are BRCA positive to reach the right decisions,’ says Dr Tate.
She adds: ‘It’s not clear that everyone who needs it is getting that support’.