Testing Women For Gene Mutations Is Great But How Will They Be Supported When The Results Come Through?

It has long been known that a small proportion of cancer cases occur in women (and small numbers of men) who carry a mutated gene. This gene mutation, such as BRCA2, raises their risk of developing a number of cancers.

Currently, someone who suspects they have a gene mutation must demonstrate a strong family history of such cancers; say, numerous close family cases at a young age.   Once this family link is confirmed on paper, there follows a process of counselling alongside the lengthy wait for blood test results.  Counselling aims to ensure the subject is aware of the implications of a positive blood test result (they are a carrier of a gene mutation and their cancer risk is a lot higher than the general population).

Researchers at Barts Cancer Institute have recently compared the costs of the current policy, which tests for cancer mutations in only suspected individuals, with one of mass-population testing of over-30 year olds.

With costs of gene tests dropping, the study found that monetary savings can be made if the whole female population over 30 was tested and all gene carriers identified, monitored, and treated earlier; or given prophylactic (preventative) surgery.  In addition, the researchers estimate that this policy could prevent up to 64,000 cases of breast cancer, and 17,000 cases of ovarian cancer.  

The research by Barts has been welcomed.  Anyone who has lost someone to that disease could not fail to celebrate the optimism given by this news, and other recent findings relating to cancer treatments and prevention.  However, speaking as a “gene mutant”, mass-population testing cannot be introduced without a quantum leap in the provision of counselling and mental health support (within a struggling NHS) so that all those tested are well-supported. To some extent those currently identified as worthy of testing are lightly supported, so a potential step-change in testing policy is the right time to review the pastoral support given to “mutants”. 

When I experienced the testing process, 10 years ago, I met a genetic nurse whose task was to ensure I was ready to accept the findings (at that point unknown) of a genetic test. Two members of my family had received cancer diagnoses – one of them under 30 and suffering a very aggressive form – sometimes an indicator of something amiss. I needed to know my own risk of cancer, and even whether I had cancer already. However, I had minimal “counselling”, and I reassured her I felt well-prepared for results day​. I suspect I appeared quite level-headed about it, as I just wanted it done.

I was not prepared.

My life can be split into two phases: “pre-“ and “post-result”.   Unaware of how my relatives’ experiences (and death) at the hands of cancer had affected my subconscious, my reaction to being told that “unfortunately the result was not as we had hoped”, was devastating.  The previous day I had been optimistic that it would be ok, even if it was a positive result; today I had a 40% chance of getting ovarian cancer, and an 87% chance of receiving a breast cancer diagnosis in my lifetime, and I was inconsolable.

Obviously, one is in shock if receiving bad news, that’s understandable. However, I felt like I had been told I had cancer (well, what I imagine I would feel like, as I never have had that news).  My fear of immediate death, and helplessness was overwhelming. I couldn’t go to work, or eat; I couldn’t STOP being scared. The genetic nurse then visited me at home to try to pick up the pieces.

Looking back, the reaction to my positive blood test forms part of a picture, now familiar to me.  My life is spent on anti-anxiety and anti-depression pills; I receive support from my GP and various NHS “talking” therapists, and maintain practices of cognitive behaviour skills, reflexology and meditation to prevent myself going back over the precipice.  I suffer health anxiety – any contact with GPs or hospitals is overpowering; and bodily changes which arise cause me to collapse in semi-suicidal fear.

What does my experience mean for the introduction of mass-population testing for gene mutations? Advances in science which save lives are to be embraced with open arms.  It is noble to suggest testing all women over 30, aimed at giving them choice in prevention strategies or early treatment through targeted screening once their raised risk is established.

However, when we cope with the first generation of women who face the dilemma of preventing a disease that isn’t yet there and may never arrive, we may also realise that we need high levels of support both pre- and post-result.