Sharing pre-symptomatic genetic test results with family, friends and others

This section is about people’s experiences of sharing pre-symptomatic genetic test results with family, friends and those around them. It covers:

  • Sharing pre-symptomatic genetic test results
  • Being told a family member’s pre-symptomatic genetic test results

Pre-symptomatic genetic testing is only available where a genetic variant of inherited MND has been identified in an affected relative. It allows people to find out if they have inherited this gene variant and have an increased chance of developing symptoms.

Sharing pre-symptomatic genetic test results

Deciding who to tell, how and when was a common issue. Some individuals who had received a positive pre-symptomatic genetic test result were open about passing on this news. For Anthony, there isn’t any “stigma” attached to sharing his positive result. As well as telling close family and friends, he and Harriet have both shared their experiences as part of fundraising they have done. Others, like Lillian, felt they didn’t need to share their results beyond a few trusted people.

Lillian has been “selective” about sharing her pre-symptomatic genetic test results. She doesn’t want people to feel sorry for her or “make any allowances”.

Anthony and Jade focus on the “positives” when sharing with others that they carry the C9orf72 gene variant and have an increased risk of developing symptoms, highlighting developments in research and their own involvement in research studies.

Jade’s approach to sharing her pre-symptomatic genetic test result has been to deliver it with a positive, so people know that “it’s not the end of the world”.

People shared pre-symptomatic genetic test results in different ways, whether in person, over the phone, on a video call, or by text message. Some families had WhatsApp groups to share news with each other. Kelly had arranged to meet her mum at a certain time to share her results, so her mum wouldn’t panic if she didn’t phone straight away. Jade told her mum on the phone without realising she was at the supermarket; if she had known, she would have waited until she was at home. Georgia Z showed her partner a video she took after she had the blood test; she waited until she received the results to tell him that she’d 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.

When sharing their results, people reported that reactions varied, from being upset, sympathetic and shocked, to surprise at not being told sooner, or “in denial” about what it meant. Anthony’s mum felt sad at passing on the C9orf72 gene variant, but his view was that “it’s no one’s fault”. Although they were “gutted” for him, Calum felt some family members couldn’t understand or were a bit “blasé” about it, especially if they hadn’t seen the disease first-hand. He told some friends that he carries the C9orf72 gene variant but hasn’t told others. He said, “it’s just this awkward quietness and it gets to the point where you’ve had enough awkward quietness, you don’t want to tell any more people”. He would have liked to have someone in a similar situation to talk to.

People we spoke to who had received a negative pre-symptomatic genetic test result also shared their experiences of telling others. Maggie commented “I mean, it’s easy to give good news, isn’t it?”. She advised other people to take the time they need to process their results before sharing them with others.

Kelly was pleased to share her negative result with her family and colleagues who had supported her over the pre-symptomatic genetic testing process.

As Kelly suggests, sharing negative results could also be difficult, and a few people felt worried or apprehensive about sharing their results with family members, particularly those who had also been through pre-symptomatic genetic testing and received a positive result. Georgia Z described how she “couldn’t find the words” to pass on the news of her negative result to her cousins and asked her uncle to tell them, describing it as ‘bittersweet’. Although it could be hard to have such conversations, people in this situation often found their family members were happy for them and supportive. Jade worried her brother would feel “guilty” that she had tested positive when he had tested negative, but he said, “it’s just the way it is”, and offered to take part in research as a control sample.

Being told a family member’s pre-symptomatic genetic test results

People we spoke to described what it was like to be told a family member’s pre-symptomatic genetic test result. It could be upsetting to hear that a family member carried a gene variant linked to inherited MND, and difficult to know what to say or how to support them. It could also be emotional to hear that a family member had tested negative, particularly if they themselves had tested positive. Although no one wanted their relative to be affected, some people in this situation couldn’t help feeling “it’s not fair”. People described feeling upset, jealous, or alone, even if the feeling passed quickly and they felt guilty afterwards. One person explained, “I’m so, so happy for them that that’s their future… they deserved a bit of good fortune. I’m not proud of this feeling – but couldn’t help but feel like…. ‘Oh, I’m out here on my own with this’. And it’s not for a minute wanting them to be positive, but there’s that ugly emotion bitterness slightly with it”.

For another individual, their sibling’s negative result filled them with hope that they might also test negative (their father had died of a different illness, so they didn’t know if he had inherited the genetic variant in the family). Even though they tested positive, they felt happy for their family members who did not carry the genetic variant and had a sense of “taking one for the team”.