Receiving a positive pre-symptomatic genetic test result

We interviewed six people who had had pre-symptomatic genetic testing and received a positive result. We spoke to them about the impact of finding out that they have inherited a gene variant linked to inherited MND and have an increased chance of developing symptoms in the future. This section covers their experiences of:

  • Being given a positive result
  • Feelings and reactions
  • Processing the result
  • Reflecting on the decision to have pre-symptomatic genetic testing

Being given a positive result

The people we spoke to had known about their pre-symptomatic genetic test result for varying amounts of time, from around 8 months (Jade) to 7.5 years (Lizbeth). Most of the people we spoke to were accompanied by their partner to the results appointment, though Calum and Jade were alone when they were given their results. Although the people we interviewed generally received their results in person, Jade asked to have hers over the phone because she did not want to wait for an appointment, following delays caused by the Covid-19 pandemic. Whilst it was good to be in her own environment where she could process her emotions, she couldn’t focus on what she was being told and had no one else on the call who could take it in.

The people we spoke to described the appointment where they received their results. Lillian was given her results straightaway. After that, she felt there wasn’t much more to say, and she had “an overwhelming desire just to get out of there”. Although she was calm at the appointment, she was upset afterwards. Calum and Lizbeth also described their feelings at the time.

Although he had a sense of what the result would be, being told he carried the C9orf72 gene variant was difficult to comprehend. Calum felt “gutted” and couldn’t really talk about it.

Lizbeth describes reading her pre-symptomatic genetic test results as “a little bit anticlimactic”. She didn’t absorb it very well, and it felt surreal for a long time afterwards.

Some people found it hard to remember exactly what happened once they were given their results. As Jade said, it was “a bit of a blur”. Others used words such as ‘deflated’, ‘empty’ and ‘frozen’ to describe how difficult it was to take in at first.

Anthony and Jade were given information about research studies at their results appointments, which was something they felt strongly about doing. Getting involved in research was important to many of the people we spoke to.

Feelings and reactions

Even where people expected bad news, being given a positive result was a “shock”, a disappointment, and upsetting. Calum and Jade described feeling that the world stopped spinning for a moment. In spite of their emotions, other people we interviewed tried to “take stock” and focus their minds.

Anthony felt “deflated” when he was given the news, but tried to focus on the fact that he was well in the present, and on his reasons for pursuing pre-symptomatic genetic testing in the first place.

Being given a positive pre-symptomatic genetic test result made something that was a possibility “become real”. Although it was “crushing”, Jade tried to take stock and think about the practical things she could do.

Some people found it hard to think about how they could be affected in the future. For Harriet, who had just lost her mum to MND, this was particularly vivid. Where people seek pre-symptomatic genetic testing to inform decisions over having children, a positive result can also have immediate implications for those plans.

The appointment itself is fuzzy, but Harriet felt disappointed and empty. Her pre-symptomatic genetic test results “changed the future” and impacted her immediate hopes of having another child.

Being given a positive result also has implications for people with children. Where a biological parent carries a dominant gene variant associated with inherited MND, each of their children has a 50% chance of having inherited this gene variant. Although carrying the gene variant does not guarantee a child will develop MND in their lifetime, this aspect can make genetic testing results particularly hard to take.

Jade was pregnant when she found out about the family history of MND and had genetic testing. She felt an overwhelming sense of guilt when she realised her daughter could be affected.

Processing the result

Processing their pre-symptomatic genetic test result was difficult for some of the people we spoke to and took a significant amount of time. For Harriet, her aunt’s funeral was a climactic point, where she felt an “outpouring of grief and sadness”. Within the space of two months, she had lost her mum and aunt to MND, and been told she carried the C9orf72 gene variant. For Calum, finding out his result was “another weight on your shoulders”. He found this hard to process, particularly as he didn’t have anyone to talk to who was in the same situation as he was. Although he has ambitions in life, there have been times where Calum has found it hard to see the point of carrying on. He described how, “It didn’t sink in, nobody asked me a question about it, they were just like shocked for me, but everyone else’s life just goes on like normal whereas your life doesn’t. It stops for a moment and then starts moving again, but you know it’s stopped because you’ve found out that could happen to you or not, and it’s a horrible thing to think about”.

Lizbeth found it hard to cope after receiving her results, which had a big impact on her family. She tried to end her life four or five times, and it took several years to find a turning point. She feels strongly that there should be better professional support after the test, which will be covered further in advice and messages to healthcare professionals.

Having family counselling helped Lizbeth accept that a positive pre-symptomatic genetic test was a loss of the future she had imagined. It took time to come to terms with the results.

Whether they have been through pre-symptomatic genetic testing or not, knowing they have an increased chance of developing inherited MND can have an ongoing impact for some people.

Although some people found it took time to adapt to the knowledge of their positive result, others found they were able to move forwards with their lives. Jade felt her outlook changed after finding out she carried the C9orf72 gene variant and had an increased chance of developing MND in the future. She said, “it’s a bit more depressing to know I have got it when I was really kind of hoping I wouldn’t, but once you have time to process that information and process the implications, you get to the stage where I’m at now and you kind of just get on with it. Life is life, it’s all good”. Anthony found that the initial upset only lasted a few days; now, he tries to focus on making the most of every day and living life to the full, rather than dwelling on something that “may or may not happen”. Other people we spoke to also reflected on the impact of inherited MND on their attitudes to life, priorities and perspectives.

Reflecting on the decision to have pre-symptomatic genetic testing

In spite of their feelings at the time and any difficulties they had experienced since, no one we spoke to said that they regretted having the pre-symptomatic genetic test. Whilst not the outcome they had hoped for, their results gave them the knowledge they had wanted when thinking through the reasons for having the test in the first place.

Jade hopes her pre-symptomatic test results will inform her children’s decisions around having families of their own. She is positive about the possibility of stopping the disease in future generations.

Lillian stands by her decision as the right thing to do. She doesn’t feel she is more worried than she was before the test, when she knew about the possibility of having inherited the C9orf72 gene variant. For her, “it’s a different kind of worry”. Lizbeth also remains glad that she had the test. Although it wasn’t easy, it was the right decision as it gives her more informed choices. Calum feels grateful for having the test, as for him it is important to know what he could be dealing with. He sees it as a benefit to be able to plan his life with this knowledge.