‘How my experience with genetic counselling gave me confidence with patients’

In August 2022, I accompanied my Mum to her 10-year clear appointment at the Oncology Outpatients at James Cook University Hospital in Middlesbrough. 

After her assessment we spoke with one of the breast nurses who had been in the room with us about next steps regarding myself, as I knew that I would be referred for screening five years prior to the age my mother was at her first diagnosis, 32 years old - so this would be when I am 27 (I am 22 now). The topic of genetic counselling was broached.

At the time when Mum was diagnosed genetic testing was not offered and there was no previous cancer history in the family. 

A sample of her blood was taken at the time she was diagnosed with breast cancer to be kept on record in case she would not be here, if I ever needed to request it.

A referral was also made to the genetics team and we were provided with a phone number to call to discuss family history, and her sample was sent off for testing.

Family history 

On 16 October 2022, Mum received a letter that confirmed that she carries a change in the BRCA2 gene which can cause a higher risk of several different types of cancer, and following this letter on 25  October she had a telephone appointment with a genetic counsellor to discuss the outcome. 

From this discussion, on the 24 November another letter was sent detailing the conversation from the telephone follow-up, and consent forms were enclosed so that myself, my three maternal aunties, three uncles, and my Grandad could also consent for testing. They supplied a consent for my Grandad because they also wanted to determine which side of my Mum's family the mutation had come from. 

Several weeks later I received a letter with a number to ring so that I could arrange my own appointment. 

When arranging an appointment, they try to get you into a centre that is close to home providing there is availability. 

Covering the basics 

My appointment date was 16 February 2024. Mum and Dad came with me, initially. I was going to go in on my own but it does make it a lot easier having someone there with you. The genetic counsellor wanted to get a grasp of my knowledge, so she was keen to know if I knew why we were here. She also explained what the BRCA gene is. She was also curious to know about Mum’s history, and asked pertinent questions, like do I smoke and drink? She went into what interventions are available – mastectomy, chemotherapy, hormone therapy (like Tamoxifen). 

Surrounding this, she was interested in how Mum had felt about her surgeries as she had mastectomies, reconstructive surgery, and an oophorectomy, the scars, and the healing process. 

All I’ve ever known

She wanted to know what I thought too. For me, it was all I had ever known because I didn’t know a time before Mum’s cancer diagnosis. I was 10 when her breast cancer recurred in her left breast and I remember dad taking me to visit her in hospital – a nurse came down to change her bandages and they wanted dad to take me out of the room so I would not have to see the scars, but dad said ‘no, she needs to see her Mum. She needs to see that although it is scary, it is all to help her recover.’

The counsellor also asked if I checked my breasts and reiterated the importance of doing so. She also asked if I had any questions, and the main one for me was having children. Even if I do have the mutation, there is a 50 per cent chance that my children would not inherit the mutation. There was no previous history of cancer in the family. Mum had me, and then in 2002 the year after I was born, she was first diagnosed with breast cancer. 

A dilemma 

So for me the question is: do I not have the test to see if I have the mutation and go on to have kids, even though we know there is breast cancer in the family? Or do I find out if I do have the mutation, and then not have kids because I would not want to have that guilt of them potentially inheriting the mutation, knowing what it has put my Mum through? 

The thought of going through treatment has never bothered me: I am fortunate to a degree, because I have an understanding of treatments, interventions, and the support out there that is available, so it does not scare me. It is more to do with not naturally having children and when I am in relationships, how to have those conversations and explain. I do want to become a mother someday, but if I do have the mutation, could I justify bringing a child into the world when there is the chance they could inherit the mutation, or bring that burden into my partner's life? Or, maybe I won’t have the mutation and hopefully Mum won’t feel guilty anymore.   

The psychological impact 

There was heavy emphasis on the psychological impact, and the genetic counsellor was keen to know if I was sure I wanted the test, because of my age. She wanted to make sure that I have a good support system, which I do, so I had to convince her I was sure. But this was not something that had come out of the blue for me. I have lived with it my whole life, all the thoughts and feelings that have presented themselves in various ways as I have gotten older, and although some will find it life-altering knowing the result of their genetic test, for me I want to know where I stand. It is also for my Mum and my Dad because I can tell it scares them, and I try to make sure that they know I am okay. 

Physical health 

Since my session with the genetic counsellor, I have been considering how I would have approached the topic of physical activity and the role it plays within supporting cancer patients. 

Just because someone is lean or thin doesn’t necessarily mean they are healthy. We cannot make assumptions about people, and I think it’s important to expand and talk about the benefits of exercising on mental wellbeing and making every contact with patients count.

For someone who may not understand, it could be easy to misinterpret what is meant when a health professional comments on their physique: it can have an impact on a patient's outlook on approaching professionals for support.  

During the session, I was also asked about how I would feel about waiting eight years before having any interventions if the results come back that I do have the mutation, so waiting until I am 30. This did surprise me because I had been told and was always aware I would have an MRI when I was 27, so I am no longer entirely certain whether this still stands. I can only guess why they asked this and because I was receiving so much information I didn’t really have the chance to process it fully and I did not think to ask her to expand on this. However, once I have the results this is a question that I will pose to her for further clarity. 

The counsellor also asked, knowing this, if I still wanted to go ahead with the test, that I could wait if I wanted to, but I had hit a point years ago that I was ready and I did not want to keep prolonging the wait. 

She then went through the consent form – I did not realise you could test for BRCA1 or BRCA2, I thought it was one test, but on the consent, she specified they would be testing for BRCA2. 

After she took the blood sample, she told me it would be a wait of up to six to eight weeks for the results and once they had my results, she would write to me and then depending on the result I would have a follow-up phone call.     

The follow-up 

On 1 March  2024, I received a letter summarising everything that had been discussed during the appointment, and a leaflet from the National Institute for Health and Care Excellence about Tamoxifen was included to read through.

To me, this felt a little presumptuous, although it is useful literature. I had an immediate sinking feeling because this was the first thing I looked at and immediately thought I had the mutation. 

From one perspective I appreciate it was there to inform and guide patients, however, I instantly jumped to the worst conclusion. I feel like it might have been more practical to have it in the letter that actually contains the result, rather than sitting on this information for weeks and not knowing what to do with it. It is incredibly daunting as it is preparing you for an inevitability that may not actually be a reality, and causes unnecessary stress. 

If I was reading this as just a 22-year-old patient with no or very little knowledge surrounding oncology, going through all the statistics and how Tamoxifen can cause clots, I would be terrified. But because I am an almost qualified Therapeutic Radiographer, it is knowledge I already have and I knew how to unpack the information that was before me.     

A personal understanding 

Currently, I am still waiting on the results but overall my experience has been insightful both as a patient and as someone training to become a Therapeutic Radiographer. By having a personal understanding of what genetic counselling is and the process, I would feel confident in talking to patients if it is something they are considering and want to discuss. Having a wider awareness of what services are available to cancer patients and their families will mitigate fears because we can suitably and effectively inform and signpost. Furthermore, it is a chance to acknowledge the long term impact a cancer diagnosis has on the patient and their family because for many people it does not stop once treatment has finished and they have the all clear. 

Update

On 26 March I found out the results of my blood test. I received a letter which detailed that I have inherited the BRCA2 mutation. I am aware that this does put me at a higher risk of being diagnosed with cancer, but it does not mean that I will get cancer.

I am hoping to ring up and arrange a follow-up appointment over the phone to discuss and learn more about next steps. I have been the first in my family to find out, and we are still waiting to hear back about when my aunties, uncles and Grandad have their appointments to go for the test too.

There was a part of me that really didn't think I would inherit the alteration, but I know I will be closely monitored and I will be accessing support such as the @brca_chat Instagram page, which is a charity supporting those in the UK affected by the BRCA+ mutation.