Talking about genetic testing decisions with family, friends, and healthcare professionals

This section covers people’s experiences of discussing their decision on whether to have a pre-symptomatic genetic test with others. It includes:
• Discussing the genetic testing decision with family and friends
• Discussing the genetic testing decision with healthcare professionals

How people came to a decision on pre-symptomatic genetic testing, and the factors and motivations involved, are discussed in ‘Reasons for wanting to know‘, and ‘Reasons for not wanting to know (yet)‘.

Discussing the genetic testing decision with family and friends

The people we interviewed described how genetic testing should be a “personal”, “individual” and “self-motivated” decision. Anthony said, “You can ask as many people as you want, but you’ve got to be happy in your own self to take the test or not”. Although they generally felt that no one had pressured them either way, some people talked to family, friends and healthcare professionals about having the pre-symptomatic genetic test.

Some people we spoke to saw genetic testing as a decision to be made jointly with their partner. Anthony said, “if your partner gets ill, you both live with that disease, so it’s important for you both to be on board”. Paul agreed.

Paul recognises that caregiving can put a lot of pressure on partners. He feels that his wife has a part to play in decision-making around pre-symptomatic genetic testing.

But the primary discussion is with my wife, to a lesser extent with my children, but it’s my wife that I look at and I think about her and the pressure on her if I were to succumb to MND, because the demands on the care that will be placed on her are huge, and I recognise that from my father. So she has a part to play in that decision making, but her view at the moment is, is pretty consistent with mine. She looks at her own genetic predisposition to heart disease and strokes and says that it’s a race who goes first. So, we have a pretty fatalistic view of that really.

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Other people we spoke to described their partners as supportive of their decision. However, the pre-symptomatic genetic testing process was sometimes difficult on partners. One person recalled how her partner had agreed with her decision to have the test, but “buried his head in the sand” over the process. He found it hard to cope when she received a positive result, and she feels he would have benefitted from being more involved in the genetic counselling sessions, so he felt “more informed” and “less afraid”.

William talked to his partner about genetic testing before they started a family, and they decided not to look into it further. He wonders if he should have pushed it a bit more, as he feels that her understanding of the disease was limited, “It’s a bit different hearing about it than it is actually seeing it”.

Whilst some people had similar views to their partner, this was not always the case. Lillian’s husband respected her choice to have the pre-symptomatic genetic test, though it was not what he would have done in her situation. She talked to him about it but “didn’t ask an opinion”. Kelly initially considered genetic testing before getting married, as she wanted to give her partner the choice of whether to go ahead with their wedding. However, she “let everyone talk me out of it”. When she later decided to have the pre-symptomatic test, her family were supportive, and looking back, she feels that waiting was the right thing to do. Georgia Z didn’t tell her partner when she had the test.

Because her partner was so against her having the pre-symptomatic genetic test, Georgia Z went ahead without telling him. She is glad she did what was right for her.

Well, the only reason why I wouldn’t have done it is because my partner was so against it. He just, from seeing my mum. We actually, we’d been together six months and then my parents were both diagnosed so he was put in the deep end with us. So he was just like “Georgia, I’m petrified, I’ve seen what your mum’s dealt with and your aunt and it’s too much”. I think he was thinking, “I’m going to be a carer for…,” like I’d already been diagnosed.
 
So yeah, I went ahead, and I didn’t tell anyone, and then I went to dinner with my partner that evening [laughs]. Well I said to my boyfriend, I did say, “Oh, I’m going for that appointment to talk about it and going through with it”, but I don’t think he was really taking me serious, I don’t think he was actually understanding what I was saying, but I didn’t push for it. I was just like, “Alright”, and at the end of the day, “If I was positive and you don’t want to be with me, that’s your loss” [laughs].
 
But I did wait to tell him and I’d actually done a video after I went to the hospital with my blood test and all the plaster, and I just said, “Today is this day and I’ve just had the test and we’ll see the results soon”, and I played that to him a few weeks later and he was like, “What?”. He was just, and then I was like, “Yeah, I came back negative”, and he just cried and he said, “I feel like I needed this without even knowing I needed this information” [laughs]. So yeah.
 
Wow
 
I will never listen. I just, if I feel something I just go for it, and I’m glad I did.
 
Yeah
 
Because in the kindest way I love him to pieces but he’s very black and white and just out of sight out of mind.

 

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Some individuals we spoke to had discussed pre-symptomatic genetic testing with other relatives. People sometimes found it helpful to talk to their siblings, who were often facing the same decisions and could understand. When considering pre-symptomatic testing herself, Maggie was interested to know that her brother who had tested positive did not regret having the test.

How people approached talking to their children about pre-symptomatic genetic testing varied, and generally depended on the age of their children and their way of communicating as a family around inherited MND. Lizbeth’s children were quite young at the time, so “although they knew what was happening, they weren’t part of the decision making”.

One scenario which can cause a potential conflict is when a parent does not want to know if they carry the gene variant linked to inherited MND, but their adult child does. This is because if the child receives a positive genetic test result, it means one biological parent is carrying the gene variant. Kelly and Kirsty had different experiences of being in this situation.

Kirsty had an instinct that she would want to find out if she carried the C9orf72 gene variant, yet she did not consider making a decision whilst her mum, Maggie, did not want to know.

Yeah. I think my, without even having to think about it too much, I think my sort of gut instinct was, you know, I would want to know. And that, without any sort of real… I don’t really know, I didn’t really know why at that point, I think it’s just part of like my character; I like to know what I’m dealing with, I like to have all the information, and I suppose to a certain extent I like to sort of know what the worst-case scenario is so I can be mentally prepared for it.

I think then when I actually sort of thought in more detail about, you know, and I tried to sort of imagine what it would actually be like to have that information and then to live with the information, potentially to live with the knowledge that you do have it. You know, it wasn’t sort of that I said, “I would want to know”, and that was it, my decision was made, it was just more, “I think that would be my decision”, but, you know, I would, I knew that I would always have to really, really think about it, and it wouldn’t have been a decision that I would’ve taken lightly, and I’m sure that, you know, from what I know and the discussions that my mum had, I think, you know, they make sure that you do think about it which is, which is really good.

But while my mum was sort of adamant that she didn’t want to know, I just, my first thought was just that it just wouldn’t be fair. And there’s no way that I could’ve just gone and gotten tested, found out that I had it and not told her, like that would just, that was a complete, like that was just not a possibility, not even an option for me. So essentially me going and getting tested ahead of my mum was taking that decision away from her and that just, that just didn’t seem fair at all.

I don’t know whether if, you know, if she had continued to not want to know, whether that maybe then would have caused friction in the long term, potentially. But it’s not something that we had to sort of, that we had to deal with because, you know, she did, she decided that she did want to know.

But I know like my auntie for example, she definitely doesn’t want to know, so I can imagine that potentially for her children, that’s something that they will have to deal with. Yeah, and it’s just, it’s difficult. And I think my sister said that she was kind of, said that she wouldn’t want to know but yeah, I guess everybody, I think everybody is different and everybody sort of, you know, can change their mind as well.

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Because her father didn’t want to know his genetic status, Kelly had to “fight” to take the pre-symptomatic test. She felt she wasn’t being allowed to make decisions on her own health.

The counsellors are great, but I did feel a bit – I can’t think of the word to describe it – I felt like I was being guided as a child, so to speak. I went in there as a 29-year-old woman, I went for all these appointments, I’d spoken to all these people so many times and they seemed, it felt to me they were more bothered about my dad and how he was going to react if I tested positive because it meant he would be positive.
 
There were times where I was feeling like I wanted to just scream at them and say, “Well that’s his fault, he didn’t get tested, I’m stood in front of you as an adult asking for a blood test so I can make an informed decision for my children”, and I did have to fight and there were a lot of tears, and I think at one point I even begged down the phone for a test. And when my cousin told me that she was getting tested pretty quickly on a turnaround because her dad was dead, I think the exact words I used to my counsellor were, “I feel like I’m being penalised because my dad’s alive”, which I did feel like because I wasn’t being allowed to make decisions about my own health. It felt like everyone was just focusing on him, which I felt was quite bad because, “I’m here, I’m your patient”, and if he as an adult is making a decision that he doesn’t want it then that shouldn’t impact my decisions.

 

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Other parents didn’t feel the need to have pre-symptomatic genetic testing for themselves, but said that they would reconsider their choice if it would benefit their children in the future.

Although people generally found family members supportive and understanding of their views, this was not always the case. One person’s decision to have the pre-symptomatic genetic test was not well received by a family member, who didn’t talk to her for several months afterwards. Others described discussions around genetic testing and inherited MND more generally as a “taboo subject” in their family; they didn’t always have people they felt they could talk to, which could be hard. People also found it difficult where relatives didn’t really understand or dismissed their concerns over the testing process. One individual we interviewed said, “Everybody was very shrugged-shoulders about it. My brother and me, we were both very worried. My mum was concerned but she was pretty convinced we’d be fine and we wouldn’t have the gene. My mother-in-law was like, “Oh, that’s ridiculous, you’re not going to have it,” which bothered me a little bit at the time because I needed her support and for her to take it seriously”.

Whilst some people didn’t want to burden their friends, or didn’t feel they could understand, others found it helpful to talk with friends about genetic testing and appreciated their advice. Not everyone we spoke to told their friends that they were thinking about having the pre-symptomatic genetic test, yet others valued the support they received from friends, colleagues and neighbours over the process.

Maggie has been open in discussing inherited MND and pre-symptomatic genetic testing with friends and colleagues. For her, it is easier not to have to hide anything.

I help out in the local village shop here, we’re all volunteers, so when I was going and visiting with my brother more often and I was saying to them, “I’m not going to be in the shop this week because I’m going to my brother” so, yes, right from the start when I was going down there, I said to them that he’s got motor neurone disease and that my mother had it too and that it… So yes, in a funny way it made it easier I think for me that I wasn’t trying to hide anything. I’m not, I’m not somebody who can hide things very easily. If I start to talk it just keeps, as you’ve probably noticed, it just keeps on coming. So it’s easier if I can just tell people and then if I did develop it then it wouldn’t be a big shock because they’ve already been warned that it could happen.

Mm, yeah, so you felt quite able to talk about that hereditary side of it as well?

Mm, absolutely. And then people say to me, “Well, are you going to be tested? Have you got it? Do you want to know?” and I said, well at the start I said “No I don’t want to know, there’s no point” and then I mentioned to somebody that I thought that maybe I would like to know and we had that discussion. It’s funny how you can almost discuss it with others as easily as I can with family really, but that’s because they’re here all the time, family aren’t.

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Whilst family and friends could be important sources of support, others valued talking to people in a similar situation on support groups and online forums.

Discussing the genetic testing decision with healthcare professionals

Some people we spoke to had talked to healthcare professionals about whether to have the pre-symptomatic genetic test, including GPs and neurologists. Two people we interviewed went to a neurologist for advice and felt they were discouraged from having the test. Both individuals found these conversations helpful and neither saw a genetic counsellor or pursued genetic testing further. Another person reported being told by their GP that having the pre-symptomatic genetic test would not be of benefit and would cause more worry. Although she felt “dismissed”, she also thought that her GP was “probably right”.

People who are thinking about having pre-symptomatic genetic testing are generally required to have genetic counselling before taking the test. People we spoke to found talking to a genetic counsellor helpful in providing reliable and understandable information, and in supporting them to think through their decision. It is important to note that people don’t have to be considering genetic testing in order 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.