Having genetic counselling before pre-symptomatic genetic testing

People with a family history of MND or frontotemporal dementia (FTD) can ask their GP to refer them for genetic counselling. There are many reasons why people might want to talk to a genetic counsellor or clinical geneticist. One reason is to learn more about genetic testing and think through if this is the right option for an individual. We interviewed 9 people who talked about having genetic counselling before having a pre-symptomatic genetic test. This section includes:

  • Genetic counselling in the pre-symptomatic genetic testing process
  • What was covered in genetic counselling sessions
  • Experiences of genetic counselling, including what was useful and what could be improved

Genetic counsellors aim to make sure people are well informed and guide them in making the choices that are right for them. However, it is important to note that people don’t need to be thinking about genetic testing to see a genetic counsellor. Genetic counsellors can provide information on genetic conditions, helping people to understand how they and their relatives could be impacted, and offer support in adjusting to and coping with this knowledge. They can signpost to relevant resources, and sometimes refer people to other services too, such as psychological support.

In the UK, people considering genetic testing are recommended to see a genetic counsellor and/or clinical geneticist before having a pre-symptomatic genetic test. Although the people we spoke to decided to have genetic testing following their genetic counselling, others might want information and guidance on genetic testing, but decide not to be tested at that time. Two people we interviewed were considering pre-symptomatic genetic testing and had either had an initial session with a genetic counsellor or were waiting for a referral. This section focuses on genetic counselling as part of the pre-symptomatic genetic testing process.

Genetic counselling in the pre-symptomatic genetic testing process

It is good practice for people to have at least two genetic counselling sessions before the genetic test, with a period of time in between so they can think through their decision and any issues involved. Although there are guidelines genetic counsellors use when supporting people through genetic testing, these vary a bit in practice, and other healthcare professionals, such as neurologists, might occasionally be involved too, which can change how things are done.

Most of the people we interviewed were referred for genetic counselling by their GP, though Georgia Z and Harriet had counselling through the neurology team who had been involved in their family members’ care.

Calum’s GP was able to talk him through the genetic counselling process he’d need to go through before having the pre-symptomatic test. Calum felt happier and relieved to have taken this first step.

So when I had a, when my father died I put it to the back of my mind really and tried to live life, but you can’t really, you’re constantly seeing the odd glimmer of MND news or whatnot. And the following summer, so 2018, 2019 I decided to start the motor neurone disease process really for testing, because I always had this uncertainty in the back of my mind that I needed to know, I didn’t want to pass it on to children, I didn’t want to have all these questions at the back of my mind for the rest of my life.

So I felt I was quite brave in approaching my GP and explaining what had happened to my father, and my auntie, and it was, it was good actually because my GP, he helps out in neurology at the local hospital so he had quite an interest in it and an understanding, and talked me through what the process is really, that he would refer me to the local genetic counselling service, and that they would basically contact me and go from there. And really it was a waiting game from that point. I felt a lot happier and relieved to be able to talk about it with somebody a little bit.

Embed Print Transcript

Most of the people we spoke to had seen a genetic counsellor in person, though Maggie and Adam had spoken to a genetic counsellor over the phone due to the Covid-19 pandemic. Some people took their partner or a family member with them to the appointments, and others went alone. A few saw a consultant either as well as or instead of a genetic counsellor.

People we spoke to reported a range of experiences. Maggie and Harriet only saw their genetic counsellor once before the genetic test, and other people had two or three sessions, which is what is usually recommended. Kelly saw her genetic counsellor twice in person but had regular phone calls over several months as her test was delayed. Lizbeth had around six sessions, which involved seeing different healthcare professionals.

People generally felt they benefitted from genetic counselling, though a few of the individuals we spoke to felt surprised or frustrated by the length of the process. Calum understands that genetic counsellors need to make sure that people are certain in their decision, but he felt that waiting six weeks between appointments was too long. Lizbeth was cross that she had to have so many appointments before having the pre-symptomatic test. Unlike other people we spoke to, she had to see a psychiatrist which felt like “jumping through hoops”. Because she was sure she wanted to go through with the genetic test, Georgia Z didn’t feel she needed genetic counselling, but was told it was mandatory. Once she knew she could have the test, waiting for her appointments felt like “a ticking time bomb”.

The pre-symptomatic genetic testing process took longer than Anthony expected. He initially felt that he didn’t need genetic counselling, but found it was “worth doing”.

The process took longer than we expected, we had two meetings, I think, over a course of three months. So we thought it was a case of, ‘Well, we’ll get tested, then let’s get tested,’ but it was a case of you’ve got to go and see a counsellor, and it was like, well why do we need to? And then actually when we saw a counsellor, it was worth doing [laughs]. She asked questions around the kids and just finding out if you’re going to be able to cope with the decision you get. But we didn’t waver too much in that… if you do go backwards and forwards then it’s probably harder to make the decision for a start, because I did write down a list of why to get tested and why not to get tested, and actually the ‘why’ to get tested was quite convincing for me, basically.

 

Embed Print Transcript

For Kelly, the genetic testing process took longer than expected due to complications caused by the Covid-19 pandemic and the fact that her father did not want to find out if he had inherited the C9orf72 gene variant from his own mother. This situation is particularly complicated because if a child tests positive, it means that they must have inherited the genetic variant from a biological parent. Kelly’s genetic counselling team wanted to give her father time to make a decision for himself.

Because her dad did not want to know if he carried the C9orf72 gene variant, Kelly was asked to wait to have the pre-symptomatic genetic test. She felt “penalised”, and “put everything on hold”.

In that meeting it was brilliant in terms of the information that we got. I suppose when you go into it, you go in with a bit of a false sense of security of it could be treated or that there’s ways to manage things and things like that, but you don’t understand the full extent of how much research has gone into it and how much is still ongoing.
 
So obviously the appointment I felt was quite short, when you’re going in basically blind; you’ve only got 45 minutes. So, my first appointment I went with my mum too and we found out more about the gene that I was getting tested for and also if me and my husband wanted to have children, the avenues we had available to us at the time, which was really good, how the testing process would go ahead and things like that. Then I had my second appointment in January 2020, and again with mine it was basically fighting for my own rights. Because my father wouldn’t get tested…
 
My battle was the frustration, the fact that I don’t have contact with a member of my family and because of that and because he is alive, I did honestly feel very penalised, that as a 30 year old – well, 29 year old at the time – I couldn’t technically make my own choices, and felt like I was having to wait for someone else to make a decision before I was allowed to decide how my health could be impacted.
 
Me and my husband basically put everything on hold, we stopped looking at houses, we stopped talking about children and things like that. My main theory was it was scary. I suppose from being young and growing up, you have a set kind of thing in your mind about how your future’s going to be and when someone tells you there’s a very high chance at this moment in time that your life isn’t going to go the way you want, you’ve kind of got to take a step back.

 

Embed Print Transcript

Other people had a different experience. Although it is recommended that people see a genetic counsellor before pre-symptomatic genetic testing, Harriet was able to have the blood test after an appointment with a neurologist. She was a little bit “blindsided” by how fast the process was, but felt relieved as she was certain of her decision. Lillian and Maggie found their genetic counsellors moved them through the process at an appropriate speed, which was what they wanted.

Lillian described the genetic counselling process as “quick”; her counsellor understood why she wanted the pre-symptomatic genetic test and didn’t push her to have a lot of sessions.

In the process of genetic counselling, my genetic counsellor was very supportive, he listened, he understood me entirely. He knew he didn’t need to do multiple sessions with me, he knew I knew my mind, he knew the reason why I wanted to know, he understood the whole family issues, and I think he just got it. So, we had, we didn’t have many sessions. I think I saw him twice before we did the blood test, and I think that is really quick, but I just think we were just battering our heads on a wall because I definitely wanted to go through with it.

So when, the day they did the blood test he wheeled in another counsellor and the pair of them just said, “At this stage you can, you can either have the blood test and decide not to have the result or you can decide not to have the blood test”, but I wanted the blood test, and then obviously I was going in for the result. So, I saw the genetic counsellor four times up to the result.

Embed Print Transcript

What was covered in genetic counselling sessions

The people we interviewed described their experiences of having genetic counselling. People were asked about their family history, their understanding of how they could be affected, and their feelings and motivations around pre-symptomatic genetic testing. Jade was told about the reasons why some people might not want to have genetic testing, which was helpful. Georgia Z described the information she was given as quite brief; she found that the main focus of the sessions was on “will you be able to cope?” Other people were also encouraged to think through how they would cope with knowing their genetic status and the impact for themselves and other family members.

Genetic counsellors also discussed wider implications of receiving a positive result and were able to give information on worries people had such as around getting insurance if they tested positive. Although it is important to be honest when asked questions by insurance companies about one’s own or a family member’s medical history, Genetic Alliance UK advise that people in the UK do not have to disclose predictive test results for inherited MND.

Genetic counselling can also provide reliable information. People we interviewed described how genetic counsellors explained in an easy-to-understand way how genes are inherited and passed on. They discussed the reproductive options available for some people with an increased genetic risk of developing MND, including the use of genetic testing before or during pregnancy, which could help with planning a family.

Kirsty found out about reproductive options to prevent inherited MND in future generations through her mum’s genetic counselling. Whilst this was good to know, it was a lot to take in.

Then when my mum went for her, she had her first genetic counselling session before being tested. That was actually, that was quite helpful, that was really helpful not just, I think it was for her, but it was also for me as well because they talked about me and about my sister and about, you know, having children and testing possibilities and all that sort of stuff. And my mum, she you know, she relayed the contents of like the whole conversation to me.

You know, so it came, this lady sort of said that if, for example, if my mum tested positive for the gene and then if I were to fall pregnant before I knew if I had it, then there would be the option for like fast tracking the testing process to find out. And that there was, there are also then possibilities to do like embryonic testing and then potentially also like to do IVF as well, as like a different route to having children.

So it was, on the one hand it was, it was good to know that there were all of these sort of options out there so that, you know, if it turned out that my mum had the gene and I had the gene that it wasn’t that having children was sort of off the cards. At the same time, it was all quite heavy-duty stuff to try and get your head around. And yeah, it’s quite, it’s just, it is just quite a lot to sort of, to take on.

Embed Print Transcript

Kelly and her counsellor put a plan in place for if she received a positive pre-symptomatic genetic test result. She found it helpful to know that whatever the outcome, she could move forward with her goals.

So, the plan was if it came back positive… they’d ask if I can start having regular tests. She [genetic counsellor] said it would be a test just to see how my cognitive skills are and my writing and things like that. She said, “We’d also send you for a scan on your brain”, she went, “It would be more so you can see every time you have a visit and whatever scans they do, you can see for your own peace of mind that there are no changes if there are no changes and you’re not just being fobbed off”. So then said she was also going to refer us over to the IVF clinic in [city] to start with the IVF process of harvesting eggs and things like that if we wanted to go that route, which was really good.
 
I think that kind of helped me because I think knowing that you’ve got… the way I explained it to people was I was at a crossroads and I had two choices, two roads and they were both on a red light. And the road I was choosing was not down to me. So, it was easier to focus on the steps on each route that I could work to as and when one of them was made, the decision was made.
 
So, I think for me, because I am a bit of a planner, I like my lists and I like knowing what I’m doing and things like that, to put that plan of action in place, I think it kind of helped. Because if I had come back and I’d had a positive result, I was going to be in no frame of mind to sit there on that appointment or at least any time in the near future after being tested positive, I wasn’t going to be able to get my head straight enough to think about what I needed to do. So having that plan in place for that worst case scenario was I think really, really good, because I knew there was something going to happen no matter what road I was going down.

 

Embed Print Transcript

Genetic counselling also provided the opportunity to ask questions, and sometimes to find out about research opportunities.

Experiences of genetic counselling, including what was useful and what could be improved

Generally, the people we spoke to described genetic counselling as helpful and informative, and appreciated the support they received throughout the process. Lillian found her genetic counsellor was supportive, listened, and understood her. Adam described a warm relationship with his genetic counsellor, which felt like a middle ground between speaking to people who might not understand, and doctors who he felt could be “cold” and “clinical”. Whilst Kelly had a strong relationship with her first genetic counsellor, she had a negative experience with another genetic counsellor, who made her feel “small” and like she was there for the wrong reasons.

People valued having genetic counsellors who could explain things clearly. Calum and Kelly appreciated having a “back to biology” lesson on how genes are inherited and how they could be affected. Kelly found that this gave her information she hadn’t been able to find elsewhere, “the way that she drew it out for me and explained it, it made it so much clearer that I wasn’t as panicked”.

Being given information on the C9orf72 gene variant at genetic counselling has made Jade less afraid. She appreciated having this explained in language she could understand.

She was incredible. She had a piece of paper and a pen and she explained how it’s basically a faulty gene that repeats itself. She really went into detail but she made it so that the average Joe like me and my husband who both have motor trade backgrounds, you know, we understood exactly how it worked and exactly how, if I did have it, how I would have inherited it and what the implications of it are. You know? She was very, very clear on it and she gave me so much information that, actually, I’m not afraid of it, I don’t want to peel my skin off, it’s just a part of who I am and I’m fine with it.

Embed Print Transcript

However, understanding genetics in inherited MND can be complicated, and there is still a lot of research going on in this area. Georgia Z’s counsellor explained that if she did carry the C9orf72 gene variant, she could either be affected by MND or frontotemporal dementia (FTD), which was a bit “confusing”. For some people, knowing complex genetic information wasn’t important, though not everyone felt the same. Harriet had a genetic counselling session before trying for a baby using pre-implantation genetic testing. She described how, “she was explaining a lot about the genetic code and the repeaters and things. I’m not embarrassed to say it kind of went over my head a little bit… that’s not that important to me to know that detail. It doesn’t enhance…my experience of all of this”.

Although nobody we spoke to felt pressured into decisions around pre-symptomatic genetic testing, some people felt that they had to convince their genetic counsellors that they could cope with the results.

Anthony felt that his genetic counsellors were almost resistant to him having the pre-symptomatic genetic test. He had to be very firm in explaining why he wanted it.

And I think for me, the counsellors were pushing for me not to have it, but I can see that for everyone, they push and push not to have it…  push is the wrong word, but they were, ‘Are you sure? Are you sure?’ and it’s all questions, but they had to make sure. They have to be 100% sure that you want to do it. But I did feel that they were possibly going too far into not having it, if that makes sense, and we had to be very much, ‘I want to have it.’ And I, you list the reasons out, but that’s just my own personal viewpoint

 

Embed Print Transcript

Whilst Calum appreciated speaking to someone who could provide good quality information, he had a sense of being “assessed” in his genetic counselling sessions.

So I went to the local hospital, and it was a bit bizarre because you’re going into the outpatients section and you, you’re literally sitting down with people that are being discharged for different things and you don’t feel like you should be there sort of thing but you know, you’re there and you’ve kind of just got to get accustomed to it I suppose.

I went into this little room with the counsellor that approached me and she was just finishing her training as a counsellor, there was another counsellor in the room and they sat me down and sort of just spoke about what’s the process is, what my understanding of the disease and the gene at that point was, and basically you’re there to be assessed really. Are you a suitable person to find out the result? Because if you find out that result and you take an adverse reaction to it, you know, but they don’t want that to happen, they don’t want you to do something stupid in your life that could cause you more harm or cost I suppose to society.

So I think you’re very conscious when they’re asking these questions, “Why do you want to be tested? What do you want to know?” things like that, and they must ask you like three or four times if you want to be tested, and I felt if I didn’t say “Yes” every time they probably would’ve asked me to come back, you know, but I don’t know what would’ve happened but that’s how I felt. But it was handy because they also had the knowledge that I didn’t have on the disease, life insurance, the other elements, I can’t even remember all of them at the start of this because it felt like ages ago but it’s not really.

Very informative, it was nice to be able to talk about it really because I don’t get to talk about it with anyone professionally. But you kind of, you also, you’re also on edge a bit I think because they ask a lot about your private life and they want to know what else is going on in your life that is weighing on your mind, what your job situation is, what your family think, what your partners think, what your, health is like, you know, they ask a lot of questions because if you’ve just lost your job or you’ve, you know, your family are giving you a hard time, anything like that really, and then you get a positive result in the test it can send you down that road that they don’t want you to go down. So again, they were looking for excuses not to give you the result you wanted, I think, well that’s how I felt anyway.

Embed Print Transcript

Having someone they could talk to about how they were feeling was important for some people, who valued the support of their genetic counsellors. Jade said, “I never at all felt like I was on my own, I didn’t have anyone I could call… there were people looking after me and people that cared”.

Some people had professional support after receiving pre-symptomatic genetic test results, including further contact with their genetic counsellor, but this was not the case for everyone. A few of the individuals we spoke to described feeling “at sea” or “abandoned” after their results and suggested that there should be better support for those testing positive.