People with a family history of MND or frontotemporal dementia (FTD) can ask their GP to refer them for genetic counselling. There are many reasons why people might want to talk to a genetic counsellor or clinical geneticist. One reason is to learn more about genetic testing and think through if this is the right option for an individual. We interviewed 9 people who talked about having genetic counselling before having a pre-symptomatic genetic test. This section includes:
- Genetic counselling in the pre-symptomatic genetic testing process
- What was covered in genetic counselling sessions
- Experiences of genetic counselling, including what was useful and what could be improved
Genetic counsellors aim to make sure people are well informed and guide them in making the choices that are right for them. However, it is important to note that people don’t need to be thinking about genetic testing 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. They can signpost to relevant resources, and sometimes refer people to other services too, such as psychological support.
In the UK, people considering genetic testing are recommended to see a genetic counsellor and/or clinical geneticist before having a pre-symptomatic genetic test. Although the people we spoke to decided to have genetic testing following their genetic counselling, others might want information and guidance on genetic testing, but decide not to be tested at that time. Two people we interviewed were considering pre-symptomatic genetic testing and had either had an initial session with a genetic counsellor or were waiting for a referral. This section focuses on genetic counselling as part of the pre-symptomatic genetic testing process.
Genetic counselling in the pre-symptomatic genetic testing process
It is good practice for people to have at least two genetic counselling sessions before the genetic test, with a period of time in between so they can think through their decision and any issues involved. Although there are guidelines genetic counsellors use when supporting people through genetic testing, these vary a bit in practice, and other healthcare professionals, such as neurologists, might occasionally be involved too, which can change how things are done.
Most of the people we interviewed were referred for genetic counselling by their GP, though Georgia Z and Harriet had counselling through the neurology team who had been involved in their family members’ care.
Calum’s GP was able to talk him through the genetic counselling process he’d need to go through before having the pre-symptomatic test. Calum felt happier and relieved to have taken this first step.
Most of the people we spoke to had seen a genetic counsellor in person, though Maggie and Adam had spoken to a genetic counsellor over the phone due to the Covid-19 pandemic. Some people took their partner or a family member with them to the appointments, and others went alone. A few saw a consultant either as well as or instead of a genetic counsellor.
People we spoke to reported a range of experiences. Maggie and Harriet only saw their genetic counsellor once before the genetic test, and other people had two or three sessions, which is what is usually recommended. Kelly saw her genetic counsellor twice in person but had regular phone calls over several months as her test was delayed. Lizbeth had around six sessions, which involved seeing different healthcare professionals.
People generally felt they benefitted from genetic counselling, though a few of the individuals we spoke to felt surprised or frustrated by the length of the process. Calum understands that genetic counsellors need to make sure that people are certain in their decision, but he felt that waiting six weeks between appointments was too long. Lizbeth was cross that she had to have so many appointments before having the pre-symptomatic test. Unlike other people we spoke to, she had to see a psychiatrist which felt like “jumping through hoops”. Because she was sure she wanted to go through with the genetic test, Georgia Z didn’t feel she needed genetic counselling, but was told it was mandatory. Once she knew she could have the test, waiting for her appointments felt like “a ticking time bomb”.
The pre-symptomatic genetic testing process took longer than Anthony expected. He initially felt that he didn’t need genetic counselling, but found it was “worth doing”.
For Kelly, the genetic testing process took longer than expected due to complications caused by the Covid-19 pandemic and the fact that her father did not want to find out if he had inherited the C9orf72 gene variant from his own mother. This situation is particularly complicated because if a child tests positive, it means that they must have inherited the genetic variant from a biological parent. Kelly’s genetic counselling team wanted to give her father time to make a decision for himself.
Because her dad did not want to know if he carried the C9orf72 gene variant, Kelly was asked to wait to have the pre-symptomatic genetic test. She felt “penalised”, and “put everything on hold”.
Other people had a different experience. Although it is recommended that people see a genetic counsellor before pre-symptomatic genetic testing, Harriet was able to have the blood test after an appointment with a neurologist. She was a little bit “blindsided” by how fast the process was, but felt relieved as she was certain of her decision. Lillian and Maggie found their genetic counsellors moved them through the process at an appropriate speed, which was what they wanted.
Lillian described the genetic counselling process as “quick”; her counsellor understood why she wanted the pre-symptomatic genetic test and didn’t push her to have a lot of sessions.
What was covered in genetic counselling sessions
The people we interviewed described their experiences of having genetic counselling. People were asked about their family history, their understanding of how they could be affected, and their feelings and motivations around pre-symptomatic genetic testing. Jade was told about the reasons why some people might not want to have genetic testing, which was helpful. Georgia Z described the information she was given as quite brief; she found that the main focus of the sessions was on “will you be able to cope?” Other people were also encouraged to think through how they would cope with knowing their genetic status and the impact for themselves and other family members.
Genetic counsellors also discussed wider implications of receiving a positive result and were able to give information on worries people had such as around getting insurance if they tested positive. 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 advise that people in the UK do not have to disclose predictive test results for inherited MND.
Genetic counselling can also provide reliable information. People we interviewed described how genetic counsellors explained in an easy-to-understand way how genes are inherited and passed on. They discussed the reproductive options available for some people with an increased genetic risk of developing MND, including the use of genetic testing before or during pregnancy, which could help with planning a family.
Kirsty found out about reproductive options to prevent inherited MND in future generations through her mum’s genetic counselling. Whilst this was good to know, it was a lot to take in.
Kelly and her counsellor put a plan in place for if she received a positive pre-symptomatic genetic test result. She found it helpful to know that whatever the outcome, she could move forward with her goals.
Genetic counselling also provided the opportunity to ask questions, and sometimes to find out about research opportunities.
Experiences of genetic counselling, including what was useful and what could be improved
Generally, the people we spoke to described genetic counselling as helpful and informative, and appreciated the support they received throughout the process. Lillian found her genetic counsellor was supportive, listened, and understood her. Adam described a warm relationship with his genetic counsellor, which felt like a middle ground between speaking to people who might not understand, and doctors who he felt could be “cold” and “clinical”. Whilst Kelly had a strong relationship with her first genetic counsellor, she had a negative experience with another genetic counsellor, who made her feel “small” and like she was there for the wrong reasons.
People valued having genetic counsellors who could explain things clearly. Calum and Kelly appreciated having a “back to biology” lesson on how genes are inherited and how they could be affected. Kelly found that this gave her information she hadn’t been able to find elsewhere, “the way that she drew it out for me and explained it, it made it so much clearer that I wasn’t as panicked”.
Being given information on the C9orf72 gene variant at genetic counselling has made Jade less afraid. She appreciated having this explained in language she could understand.
However, understanding genetics in inherited MND can be complicated, and there is still a lot of research going on in this area. Georgia Z’s counsellor explained that if she did carry the C9orf72 gene variant, she could either be affected by MND or frontotemporal dementia (FTD), which was a bit “confusing”. For some people, knowing complex genetic information wasn’t important, though not everyone felt the same. Harriet had a genetic counselling session before trying for a baby using pre-implantation genetic testing. She described how, “she was explaining a lot about the genetic code and the repeaters and things. I’m not embarrassed to say it kind of went over my head a little bit… that’s not that important to me to know that detail. It doesn’t enhance…my experience of all of this”.
Although nobody we spoke to felt pressured into decisions around pre-symptomatic genetic testing, some people felt that they had to convince their genetic counsellors that they could cope with the results.
Anthony felt that his genetic counsellors were almost resistant to him having the pre-symptomatic genetic test. He had to be very firm in explaining why he wanted it.
Whilst Calum appreciated speaking to someone who could provide good quality information, he had a sense of being “assessed” in his genetic counselling sessions.
Having someone they could talk to about how they were feeling was important for some people, who valued the support of their genetic counsellors. Jade said, “I never at all felt like I was on my own, I didn’t have anyone I could call… there were people looking after me and people that cared”.
Some people had professional support after receiving pre-symptomatic genetic test results, including further contact with their genetic counsellor, but this was not the case for everyone. A few of the individuals we spoke to described feeling “at sea” or “abandoned” after their results and suggested that there should be better support for those testing positive.