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.

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.

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.

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.

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-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.

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.