Inherited motor neurone disease (MND)

Sharing genetic test results after a diagnosis of inherited MND

People diagnosed with MND may be offered genetic testing to find out if they carry a known genetic variant responsible for the disease, particularly where they have a family history of MND or frontotemporal dementia (FTD). This section covers people’s experiences of sharing genetic test results, including:

Sharing genetic test results with family members
Dilemmas over sharing genetic test results

Sharing genetic test results with family members

Even where people knew or suspected there was an inherited form of MND in the family, finding out the name of the genetic variant could be significant new information for people with MND and family members, in some cases confirming that other relatives could be at an increased chance of developing symptoms in the future.

Some people felt it was important that family members were kept up to date with genetic test results so they could consider options around pre-symptomatic genetic testing or inform decisions about having children. People shared genetic test results in a range of ways, including in person, over the phone, by video call, or by post. Not everyone could remember how they passed on this information.

JW wrote a letter to his children and his wife’s siblings to share the news that she had an inherited form of MND, caused by the C9orf72 gene variant, and what this could mean for them.

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JW wrote a letter to his children and his wife’s siblings to share the news that she had an inherited form of MND, caused by the C9orf72 gene variant, and what this could mean for them.

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Age at interview: 68

Sex: Male

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I wrote a letter, handwrote it, a rare thing, and copied, photocopied one for Jean’s – my wife’s- two brothers, one for my daughter, one for my son, exactly the same letter, explaining what we’d found. And advised them to do what they wanted with it: talk to us about it, see a genetic counsellor, do what they wanted. But I wanted to do it in a written way because I didn’t know how to do it face to face, frankly. It was easier to do it by writing.

I told, I quoted, I wrote in a less medical form what the letter from the genetic counselling people at, who had done the test said. It was a very well-written and very nicely done letter. So I basically took that, changed it around a bit and said, “We now know it is not just motor neurone disease”, because they were not a million miles away from knowing that already, because of the time it was. Remember, from Spring 2013, we knew, really. “But it had this genetic form that had been diagnosed, if you took yourself to your GP, they would happily arrange for genetic tests and counselling.”

David discovered that sharing genetic test results was a lot for family members to take on board.

When sharing the results of his genetic test, David realised he had given his sister too much information too quickly, and that she needed time to process it.

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Age at interview: 62

Sex: Male

Age at diagnosis: 62

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Maybe I’m daft but I naively expected because she’s a doctor and she’s quite clever, I thought she could work it out herself. But then I realised she didn’t and I said, “Well, there’s a high probability that you will, well there’s a 50/50 chance that you will carry the gene as well, and if you carry the gene then there’s a 50/50 chance that each of your children will carry the gene.”

So… and I said, “there’s all sorts of, you know, there’s in vitro fertilisation and embryo selection, so if any of your children are thinking of having a child, you know”. And I just thought, I touched a nerve somewhere in all this. She’s quite, she’s quite an Evangelical Christian so I just wondered had I may be gone too far and broached a subject that she wasn’t happy with. So, I realised then, “Just stop talking”, which is for me unusual, “Just stop talking and let her process it.”

Hugh explained to his family that he was having genetic testing after his diagnosis of MND, which his consultant felt was most probably an inherited form based on his family history. Although his result was negative (meaning his condition is not caused by one of the genetic variants linked to inherited MND which have been identified to date), he feels he made the right choice in keeping them informed.

Whilst he has questioned whether he did the right thing in telling his family that he may have an inherited form of MND, Hugh feels it is better to “have the information out there”.

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Age at interview: 66

Sex: Male

Age at diagnosis: 64

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I mean, you know, given that I don’t have one of the known gene variants, there doesn’t seem to be an awful lot one could do, you know? In the light of that, I have to admit, it has crossed my mind sometimes whether I should have shared the information. But by and large, you know, I’m comfortable with what I did, I feel it was better to kind of have the information out there and for other people to do their own research and draw their own conclusions. But much better that at least the basic information about it being in the family was there.

Whether sharing their own results or those of a family member, some people took the approach of asking their relatives if they wanted this information before they told them. Given the implications for their relatives, they felt it should be an individual choice.

Alison was understanding when her daughters didn’t want to know the results of her genetic test. She would keep this in mind if having further genetic testing.

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Age at interview: 63

Sex: Female

Age at diagnosis: 55

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My concern was whether they were just taking on board the diagnosis that mum’s got MND, whether they would actually want that information. And certainly at first, when I first said, “Well, I’m going to be tested for this”, and they said, “Well, at the moment we don’t actually want to know the results.” And I can, you know, a measure of me can understand that because it’s pretty scary information. But when I had the test and the test showed that I didn’t have the gene that I was tested for, it seemed logical to give them, in a way, the good news, in that at least we know we can cross that one off the list. I know I haven’t got this one and that’s the only one. But I must admit, for the sake of my grandchildren… in fact, interestingly, I’ve got a remote MND clinic appointment on the 22nd, so there’s my opportunity to say to my consultant, “What’s the reasoning behind not doing any further genetic testing?” Because I think, you know, the youngest generation are here now, three of them, but I think in the future when they’re adults, my grandchildren would probably rather know.

Another person agreed it was important to respect that their relative didn’t want to know the name of the gene variant in the family, but nonetheless found it hard to understand their point of view. If things changed in the future, for example if a preventative treatment was developed, they would try again to open up a conversation.

Dilemmas over sharing genetic test results

Conversations around inherited MND can be very sensitive and cause tensions in the family. Being given genetic test results may lead to difficult decisions over who has a responsibility to share this information, and who ought to be told.

One person was given the results of her mum’s genetic test by her consultant, which confirmed that her mum’s condition was caused by an inherited gene. The consultant did not tell her mum, who had also been diagnosed with frontotemporal dementia (FTD), and they agreed that it would be best to wait to share this information with her dad, who was under a lot of pressure as her mum’s primary caregiver. Deciding whether she has made the right decision in not sharing this information has been an “added burden”, “Do you tell your dad for your own benefit, or not? So, I’m not. And there will be a day I’ll tell my dad but it’s not going to be while mum’s alive…unless he asks me directly. I won’t lie to him”.

Knowing whether to share information with extended family can also be difficult. One person struggled to know whether to tell his mother’s cousins, whose own father had died young, that they could have inherited the C9orf72 gene variant. He said, “If I was a gambling man, I’d suggest that they don’t know it was genetic… But going back to the ethics and headspace of it all, is it right that myself and my wife pick the phone up and say, ‘You know…. your side of the family could all be at risk from Motor Neurone Disease’?... I struggle with passing on something of that magnitude”. Another person questioned how to tell distant cousins about the C9orf72 gene variant in the family. They felt it was important to share this information in the right way, “it’s quite a delicate thing and I don’t want to rush into it, I want to just ensure I do it correctly and with the best emotional support that there is”.

Decisions over sharing information with (extended) family could also be difficult where a gene variant hadn’t been identified. One person knew her cousins, who lived abroad, had been told that their father’s illness wasn’t genetic, even though she and her sister were told by a geneticist it most likely was. She isn’t in close contact with them and hasn’t passed on this information. Find out more about experiences of talking about inherited MND in the family.