Deciding whether to have pre-symptomatic genetic testing: Reasons for not wanting to know (yet)

Pre-symptomatic genetic testing is available for some people who do not currently have symptoms of MND but have an increased chance of developing it in the future. This section covers:

  • Coming to a decision on pre-symptomatic genetic testing for inherited MND
  • Deciding not to have pre-symptomatic genetic testing for inherited MND- reasons for not wanting to know (yet)
  • Pre-symptomatic genetic testing as an ongoing decision

Pre-symptomatic genetic testing (sometimes called ‘predictive testing’) is generally only offered where a genetic variant linked to inherited MND has already been identified in an affected relative. It allows people without symptoms to find out if they have inherited this particular gene variant. Deciding whether to have pre-symptomatic genetic testing is an individual choice, with many factors involved.

Coming to a decision on pre-symptomatic genetic testing for inherited MND

Overall, people had different experiences of coming to a decision on pre-symptomatic genetic testing. People sometimes knew immediately that they did not want to have the genetic test at present. Richard made the decision “pretty much instantaneously”. Joe described it as a quick and self-evident decision.

Joe’s mum asked him whether he would be interested in having pre-symptomatic genetic testing. He didn’t have to think about his answer, but “just knew” he didn’t want to know.

Like I say, my mam asked, I just said no without thinking about it. And I didn’t have to think, I just knew, like, it was one of those… as you’re hearing the question come out, you just know, like, no, I didn’t want to know this. The minute she said you can find out whether you’ve got it, it was a no. That was pretty much me.

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For other people who didn’t want to know yet, it took a while to weigh up what they wanted. A few people we spoke to described going back and forth. Karen had times when she thought she might like to know. She explained how talking to others played a role in her decision, “sometimes I think, ‘Oh, I think I might get tested, I might find out’, but then I’ll talk to people… and most people say, ‘No, don’t’”.

Other people hadn’t yet made a decision on whether to have the pre-symptomatic genetic test or saw it as an ongoing decision which could change, which will be covered below. People who decided to have pre-symptomatic genetic testing also came to the decision in different ways.

Deciding not to have pre-symptomatic genetic testing for inherited MND- reasons for not wanting to know (yet)

People we interviewed spoke of a range of reasons for not wanting to have the pre-symptomatic genetic test at present.

Whilst receiving a negative result would be “amazing”, “phenomenal” and “life changing”, the possibility of testing positive was a concern. Some people believed that taking the test wasn’t worth the risk of being told they carried a genetic variant of inherited MND. Taking the genetic test was compared to tossing a coin, rolling the dice, or playing “Russian roulette”. Georgia Y’s decision was based on how she was currently affected by knowing she was at an increased risk of developing MND. She saw taking the test as “such a risk for me. As it’s not affecting me, it’s just not worth it. But if it was, it probably would be”.

People felt that not having the genetic test allowed them to hope that they hadn’t inherited the gene variant linked to MND. Karen pointed out, “if I knew that I had the faulty gene, there’s no way back from that”.

Although she describes herself as “a bit of a pessimist”, not knowing whether she has inherited the C9orf72 gene variant allows Karen to hold on to hope.

Well, the main thing is, “Can you do anything about it?” What does knowing, what’s the positive about knowing? I suppose the positive about knowing is for people who wouldn’t do things and that this knowing would make them do things. So, for example, if I’d never thought of travelling long haul or something and then I thought, “Well if I knew I had the gene I might think differently about that.”
 
For some people it’s been life changing in a good way in terms of being able to do things that they wouldn’t have done or spend money that they wouldn’t have spent. They’d been keeping it for their old age or whatever.
 
But for me, I suppose I behave as though I have got the gene, but I can also pretend that I haven’t, so – and not necessarily pretend, because I might not. I mean I’d like, obviously it would be the most amazing thing to go for the test and be told that you didn’t have the gene. That would be the one reason for going to get tested, to be given that knowledge that you haven’t got it, it would be free, you know, it would give you so much, well it would just be life changing, life changing to be told that you didn’t have it. But it’s Russian roulette because equally you could be told that you have got it. So whilst I don’t know, I can always hold on to the hope that I haven’t got it.

So do you think hope is a factor in you not taking that step because you might be told you haven’t got it?
 
Yeah, it must be, although I tend to be a bit of a pessimist so I’m convinced I’ve got it anyway. But I’m not 100% convinced, I can be 70% or 80% convinced, and that 20%/30% is the difference I think between me being very depressed and preoccupied than not being. So not knowing for sure allows me to have hope, yeah.

 

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Other people found the idea of knowing what could happen in the future to be “pretty grim”. Angi said, “why do I want to know if there’s a bomb going to go off?”, and Lexi saw knowing the results as “quite a finality for me”. Liz Z did not want to know what illnesses she could develop. She said, “if you look hard enough, you’ll find something wrong with most people. Is that really the way we want to live our lives? I don’t think so”. Joe felt that knowing could have a negative impact.

Joe felt that receiving a positive pre-symptomatic genetic testing result “would mess with us”. In his mind, that would mean his “days are numbered”.

If I get the result saying that it’s, let’s for argument’s sake say, “Yeah, you’re going to get it or you have it,” like I just don’t want to know. In my mind, like I say, I could be wrong, but going off what I’ve sort of witnessed last, or seen happen, is that it will kill you eventually. In my mind, if I get told I’ve got it, it’s like, right, in my mind, days are numbered in that sense. I know obviously I might not have it, but like if I get told I’ve got it, like that’s, personally it would mess with us so I just didn’t want to find out. I thought it would be easier just to see if it comes up. So that’s purely why I didn’t want to get it, trying to get sort of, do the test and find out, kind of thing. I think it would just mess with us personally, so I just didn’t want to get it done.

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Other people we interviewed were also concerned about the potential emotional and mental health impact of knowing they carried a gene variant associated with inherited MND. Lexi said, “I just want to enjoy my life, I don’t want to have this hanging over me…I think I can cope with it a lot better not knowing”. Paul felt that knowing he carried the genetic variant would be “putting myself under an unnecessary cloud”, where the possibility of developing MND would be at the forefront of his mind. Some people thought that receiving a positive test result would make them worry about possible symptoms. Liz Z felt she would be “even more anxious and more hypervigilant, and I’m bad enough as it is”.

Richard worried that finding out he carried the C9orf72 gene variant would put him in a “dark space” every time he felt that something wasn’t right.

Yes, I could be carrying the gene. As I say, it’s that toss of a coin. But until you know that, why burden yourself with it. So I could be tested tomorrow, find out I’ve got it, then going back to mind playing tricks on you, then I think I’d be in a… quite a dark space of every time I felt a muscle twitch, every time I felt my speech wasn’t right, it would be like, “Crikey, it’s happening” and… Don’t get me wrong, that is still there a little bit; it’s just, it’s human nature, isn’t it? And, as I say, close after my mum passed away, it was a bit more prevalent and led to that discussion, but that’s been quite a defining moment in terms of how I manage it is… just stay positive.

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For Richard, having got into a positive mindset where he felt able to cope, he didn’t want to revisit the decision not to have the pre-symptomatic genetic test. Georgia Y also felt reluctant to think about testing, “I try really hard not to get this too in my mind, because I just don’t want it to plague my thoughts”.

Other people we spoke to felt unsure of how they would respond to a positive result. William had worries about how he would react but also about the impact on family members.

William would be concerned about the mental health impact of finding out he carried a gene variant linked to inherited MND. Knowing could be distressing for him and his family.

At the moment you’re talking about an untreatable, fatal condition and you know, what effect would that have on somebody, knowing that that’s going to happen? And I’m not sure that that would be, that would be positive. And I’d worry about the mental health side of things, to be honest, like I think if I got, you know, if somebody came along and told me that that was definitely going to happen to me, I’m not quite sure how I’d react to that, and I don’t really want to find out, to be honest.

It would just be probably quite distressing for me, but also people in the family might find it quite hard, I think. You know, it just would be really tough, and it would bring back all those sorts of memories and things, yeah.

At the moment, you know, I think there’s not really a clear benefit to me or to others for pursuing it, and I think there’d be quite a lot of negative sides, you know? That would extend out to my sister and things as well, and it would… I don’t think, you know, my mum doesn’t have very good mental health, put it that way, and I don’t think she’d cope with that. And you know, my sister’s got young children, and you know, if I had the gene, then that would, that would be pretty terrible for them, you know? So, if I thought it was something that was going to bringing benefit, I might do. But I think, thinking about all those things, I tend to be feeling that it wouldn’t be that positive for us as a family, or for me personally.

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People with children were aware of the possible impact of genetic testing on them. Karen questioned the implications for her daughter, who didn’t want to think about the possibility of being affected or know if either of them carried the gene variant. Stage of life was an important consideration for people when thinking about pre-symptomatic genetic testing. Some people might have considered testing if they hadn’t had children already when they found out about inherited MND in the family.

Another potential impact people worried about was on securing a mortgage or getting insurance. One individual had come across a question on a life insurance form about his medical history. He said, “I’d rather not know because the minute you put something like that down, they’re just going to ram your premium straight up”. 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 advises that people in the UK do not have to disclose predictive test results for inherited MND.

Other individuals we interviewed questioned the point or benefit of pre-symptomatic genetic testing. They couldn’t see any advantages or didn’t think knowing would add value to their lives. Some people didn’t feel it offered useful information, or enough certainty over the future. A key reason for this was the current lack of long-term treatment or cure.

Having pre-symptomatic genetic testing would only change Georgia Y’s life in “negative ways”. She feels she would worry more, yet there would be nothing she could do about it.

So if, again, if there was a cure, I would probably have genetic testing because then, I guess once you know that you have the gene and there was treatment you could have, you’d obviously just want to know that and get started with it. I also know – only from my mum so you might be able to correct me if I’m wrong – but I’m pretty sure that it is the case that even if you have the gene, that doesn’t necessarily mean that you’ll get MND.

So again, I just think what would be the point in knowing? Like, if I knew I had it, I would worry about it even more and there was still nothing I could do about it. So that’s kind of my conclusion on genetic testing. I did go through the mindset before when I was thinking about it however long ago, I thought, “Oh, maybe if I knew that I had the gene, maybe I would worry less about small things and maybe I would live, you know, a bit more care-free and just try and make the most of things,” but I try and do that anyway, so I just, I don’t think it would change. It would only change my life in a negative way for me to have genetic testing.

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Dani felt there was no point in having pre-symptomatic genetic testing and “terrorising myself”. Although she has since been diagnosed with MND, she looks back on this as the right decision.

It was never even a decision; I just didn’t want to. It scared me. And so, and I kept thinking look, if there’s no cure for it, what’s the point of terrorising myself if I did have it? And I’m so glad I didn’t do the test because I would have known, and I just think that would have ruined my life. So no, it wasn’t even, it wasn’t even a decision, really, I didn’t even have to think about it. And I think for some people it’s right, some people it’s not, some people maybe can handle it, I don’t know. Because it doesn’t mean if you have the gene you’re going to definitely develop MND, but probably most likely with SOD1 you do. I don’t know the facts about that.

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People pointed out that even if they tested positive for a genetic variant linked to inherited MND, they might never develop symptoms. Furthermore, it wouldn’t provide information on when symptoms would develop, if at all, or what the symptoms would be. As William said, “I wouldn’t anticipate getting an easy to deal with, black and white answer”. Paul points out that we can’t control the future.

The future is uncontrollable, so Paul would rather focus on making the most of life. He emphasises that “it’s not just MND that can blight older life”.

I don’t feel any need to know whether I have the gene or not, because if I have the gene there’s only, it doesn’t predetermine development of the disease, or if it does we don’t know when, so I will be putting myself under an unnecessary cloud. And I, I really do believe that the philosophy my wife and I have around how we live our lives is not going to be affected one way or the other by the outcome of that decision but it’s, because it’s still what’s important to us we will still be doing, and we’ll still be doing in the same timeframe because we recognise from the experiences of my father in law that it’s not just MND that can blight older life, and we can’t control all of those variables. And if we get tested, or I get tested and it’s a yes, I can’t control what happens after that either, so focus on living life and making the most of it really.

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Robyn, who has health anxiety, felt that whatever the outcome of the genetic test, she would worry, “If I don’t have it…I’ll still worry about everything else. And then if I do have the gene, then I’ll just worry about that and everything else, so what’s the point”.

Like Paul, other people also felt that knowing their genetic status would not change how they lived their lives. Georgia Y tries to make the most of life as it is, and Karen also says she behaves like she has inherited the gene variant anyway. Liz Z tries to live by the saying, “plan for the worst, hope for the best”. She tries to live in the present but has also done some planning for the future, so she is prepared if she were to develop symptoms. Unlike some people we spoke to, Mary thought that knowing her genetic status might change how she lived her life.

Part of Mary wishes she could have pre-symptomatic genetic testing, but she points out that whatever the result, the future is uncertain.

Part of me wishes that I did know the gene and then I could get… but I’m not sure if I would want to be tested anyway, because imagine – so I could get tested and they’d say, “You have it,” but then it might, it might make my life change, wouldn’t it? It would change my decisions in, in going through life. Is that a good thing or a bad thing? I’m not quite sure. And I could be tested and it could be positive, but then I might die at 70 and not even develop any symptoms.

Yeah, you might never get it, you mean.

Yeah, I might get knocked down tomorrow… so it depends. They might say, “You’ve not got it,” and then they might be wrong and I’ve still got it. Because I think that’s the thing, I think if somebody tells you that you’ve not got it, I still think at the back of your mind, you might think, “Hmm, I still might though, might be something else.” So yeah.

It’s a shame that you couldn’t say, “If I don’t have it, tell me, and if I do have it, don’t tell me,” you know? Something like, I don’t know, I just don’t know how I would cope with it. I think you would, you would try and jam that much in your life, wouldn’t you, if it came out positive. And there’s certain things that you would have to put in place, which you should be putting in place anyway. But I don’t know.

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Like Mary, other people we spoke to were also in the situation where a genetic cause of the disease in their family had not been identified. This was because their relative with MND had not had genetic testing or had tested negative for the genetic variants that had been identified at the time. This was the case for Liz Z and her sister, who had asked about pre-symptomatic genetic testing at a meeting for families affected by inherited MND. They had been told it “wasn’t worth having”, but not everyone had been told that it might not be available to them. Mary felt that she didn’t know enough about genetic testing to know “what are the advantages or disadvantages?”

Pre-symptomatic genetic testing as an ongoing decision

A few people we spoke to felt conflicted or unsure of whether to have pre-symptomatic genetic testing.

Sam has “flip-flopped” between a decision on pre-symptomatic genetic testing. Having “come full circle”, they now question whether it is “worth the risk” of taking the test.

That’s something that I’ve really flip-flopped about, I change my mind on a lot. So for example, to start with I thought there’s no benefit in knowing, I’m just going to have this information and then just see what happens. I think knowing, would I actually find that more upsetting because obviously if you find out that you’re not then that’s great, but I feel the risk is clearly that you find out that you are and then that’s even worse. So that’s how I started off and I held that view for a few months, and then more recently I’ve wondered whether actually it is worth the risk, and I’ve come full circle on that.
 
I think for me it was just that I got used to the idea of possibly having, well I got used to the idea of having a 50% chance, and I can manage to live my life in a happy, fulfilling way with that knowledge. So I kind of feel like having done that for like six months or more now, I feel like even if I had the knowledge that I was positive, I could probably do that even with that extra knowledge.
 
The upside of knowing that you’re positive is I suppose that you’d be much more on it with regards to planning your life, much more aware of options, care options, treatment options, voluntary euthanasia options, all these kinds of things you’d do masses of research into, well I would probably do lots of research into them that I’m not doing now.
 
Also there might be research trials you could get on to that I’m not, I don’t know yet.
 
The whole purpose of that genetic counselling is to make sure you’re ready and sure and stuff. So I think I probably will, I expect it will change my decision making quite a lot.

 

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Although she doesn’t want to have presymptomatic genetic testing now, Louisa has “no idea whether or not I’ll get tested in my lifetime”.

At first, I thought I would need to know.

Then I started to think about why would I? Why would I get it done and why would I not get it done? If I know, how is that, how is that going to change what’s going to happen in my life? I’ve already had my daughter, you know, like what, how does that benefit me?

It takes away the hope that I don’t, and I think knowing that I had that feeling when I knew mum had had the test, but we didn’t know the results, even though I was pessimistic about it, I think that the hope gave you like just a little percent where you thought, “Well maybe she doesn’t carry the gene”. So, I feel like if I got tested then I would know and then if I had the gene, I feel like it would really affect me. I would feel like I couldn’t pull myself back. Obviously if I found out I didn’t have the gene, that would be great, but you have to roll the dice, don’t you.

My brother first said to me, “Just, right, well we know, we’ll just get on and live our lives.” I thought that was quite a sensible thing for him to say. I thought we’re just going to live life anyway and what are you going to do? Sit and wait, sit and wait for a symptom to happen, irreversible symptom, you know, not just like a twitchy eye or something, you know, but like something that you think over a period of time, “I need to go to someone now”, like do you sit and wait?

We’re going to sit and wait for that anyway, aren’t we, because if that’s what happens I’m going to sit and wait on it and then go and see… I don’t know, I don’t know. I just feel like if I just forget about it, try and forget about it and get on with my life, I am or I’m not going to be affected by this disease and I’ll deal with at the time. And in the meantime, I’m going to try and have nice holidays and write little notes to my daughter and record things and try and just live my life as well as I can.

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Some people who had decided not to have genetic testing felt that this was something they might come back to in the future, particularly if there was a point where knowing would be of benefit. As Liz Z said, “until there’s a reason, I’m not going to poke the hornet’s nest”. Factors and scenarios which might encourage them to reconsider their decision included:

  • if a treatment was available to prevent or delay the disease (although Lexi felt a treatment to delay progression would not change her mind- “until I know that I can have that defective gene chopped out…I’m not interested”)
  • to aid research on finding a cure or participate in a clinical trial
  • if their partner wanted to know or if it would benefit their family
  • to inform their children’s decisions about starting families of their own
  • to inform decisions on talking to children about their own genetic risk.

This was an important factor for Louisa, who questioned whether she should “burden” her child with this information, “or do I get a test myself and see if I need to?”

Paul sees presymptomatic genetic testing as a decision that is “continually under review”.

So we tend to think of decisions as a point in time; this is a continuous decision. It only ceases to be a decision when I have the testing and I get a result. So even if I have a test there’s still the choice to make about whether I actually get the result or not about whether I’ve got the gene. But that is a decision for me that’s continually under review, and until such time as I’ve got a result of any test, that’s how it’ll stay. I will get a test when it serves a useful purpose to, for my children i.e. grandchildren and their consideration, or to support medical developments and scientific developments. If, I will get tested if I can support decision making of other people, or progress in either of those fronts.

Equally if they turned round to – they, that sounds really impersonal – if the specialists who are conducting the research say, “We have a test for MND, and if you take it and you’re positive we can do this and it prevents you getting MND”, I’m up for testing then. But until we’ve got some control on what we do when we’ve got the information I’m loathed to, to do it.

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Other people we spoke to would consider genetic testing if they were showing symptoms or were diagnosed with MND. Richard hoped this might lead to a quicker diagnosis, and Liz felt that having this information could benefit her daughter. However, not everyone felt the same. Angi felt that nothing would make her consider having genetic testing.