Having the blood test and waiting for the results

Following the genetic counselling process, the people we spoke to were given the choice of finding out if they carried the genetic variant linked to inherited MND in their family. We spoke to nine people who had had the pre-symptomatic genetic test.

This section will cover experiences of:

  • Having the blood test
  • Waiting for the pre-symptomatic genetic test result

Having the blood test

The pre-symptomatic genetic test involves a simple, one-off blood test. Pre-symptomatic genetic testing identifies whether an individual carries the genetic variant linked to inherited MND identified in an affected relative before any symptoms appear. It is sometimes referred to as ‘predictive testing’.

Most people we spoke to had the blood test taken through the hospital or clinic where their genetic counselling had taken place, though Maggie had her bloods taken at her local GP surgery due to the Covid-19 pandemic. She wasn’t expecting to have a conversation with the nurse who took her blood sample but was asked about her decision and how she would feel if the results were not as she hoped. Although she felt sure of her decision, Maggie was told that she would be able to change her mind right up until she received her results. Other people we spoke to also described being determined and certain about pre-symptomatic genetic testing at the point of having the test.

It is generally recommended that people 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. However, this was not the case for Harriet.

Harriet saw the consultant and had her bloods taken the same day for genetic testing. She felt a bit “blindsided” it was so quick, but relieved because she was sure of her decision.

The people we interviewed described the pre-symptomatic genetic test itself as “simple”, “straightforward”, and “not very scary”. For Lillian, it was “alarmingly simple”. Some people felt that it was a significant moment. Georgia Z recalled how she felt having the test, “It was so weird, honestly, I sat there and I was kind of wondering, ‘Does this lady know what she’s actually about to do?’, like she’s about to test me to see if I have this gene”. However, after having the test it “went over my head”, and she carried on with her day as usual.

Calum felt particularly “vulnerable” around his final genetic counselling appointment. The blood test itself was “fine”, and he felt confident that it was out of his hands.

Lizbeth was relieved to have the genetic test after multiple appointments with different healthcare professionals. The team who took her blood sample had never tested anyone for the C9orf72 gene variant before, as she went through pre-symptomatic genetic testing soon after the test became available. She had to put them in touch with a researcher who she had been in contact with previously, who helped to organise the testing of the blood samples.

Waiting for the pre-symptomatic genetic test result

For the people we spoke to, the time it took to receive their results varied, from under 2 weeks (Georgia Z) to 3 months (Harriet). For Jade, it took longer because she was pregnant at the time and her genetic counsellors felt it would be better for her to have her baby before giving her the results. Some of the people we spoke to had genetic testing during the Covid-19 pandemic, which could have impacted the process.

People had different feelings over the waiting period. Lizbeth described it as “a tricky month for me”, but Anthony felt hopeful, “I’d say ‘excited’ is the wrong word, but… you’ve sort of got hope that you’re going to be the 50% that’s fine”.

Although she was more anxious when waiting for her pre-symptomatic genetic test results, Lillian wanted to get it over with.

Whilst having a timeframe for receiving their genetic test results helped some people to manage their thoughts and expectations, others found having a date made it more prominent. Several people talked about trying to put it to the back of their mind until they got closer to the time they were expecting to hear, like Georgia Z.

Georgia Z managed to put her pre-symptomatic genetic test results out of her mind, but once she was given a date she felt “nervous”.

Knowing when she would receive her pre-symptomatic genetic test results meant Maggie wasn’t on edge every time the phone rang. However, it was something she thought about often.

Harriet’s genetic test results were delayed, which was particularly frustrating and difficult to deal with. Looking back, she highlights the difference between her experience (she tested positive) and her cousin Georgia’s experience (who tested negative). Whilst she waited for 3 months and was asked to come for an in-person appointment, Georgia Z received the results very quickly and over the phone. Harriet feels that the process should be the same for everyone in spite of the result. Perceiving a pattern between the testing process and the result could cause anxiety for family members who have yet to go through genetic testing.

After being told her pre-symptomatic genetic test results would take 6 weeks, Harriet put it out of her mind. She was frustrated by further delays and felt nervous and on edge.

Kelly and Harriet both became more focused on the possible implications of inherited MND during the testing process, and what it could mean for their own health and plans for the future. Up until that point, Harriet had been focused on the goal of having the test in order to move forwards with her plans of expanding her family. For Kelly, waiting for her results was an emotional time.

Over the genetic counselling process, Kelly had focused on fighting to have the pre-symptomatic genetic test. Whilst she was waiting for her results, the possibility that she could be affected hit her.

Where people have children, genetic testing has implications for the children too. If a parent tests positive, then there is a 50% chance that each of their biological children will carry the same gene variant (though being a carrier does not always lead to the condition in a person’s lifetime). Yet if a parent tests negative, their biological children cannot have inherited this particular genetic variant from them. Waiting for a parent’s results could also be a significant time.

For Kirsty, MND seemed to have a bigger presence whilst she was waiting for her mum’s pre-symptomatic genetic testing results. It was “more threatening somehow”.

Some of the people we spoke to had planned with their genetic counsellor how they wanted to receive their results, and who would be present. The option of receiving the results over the phone was offered to some of the individuals we interviewed who had genetic testing over the Covid-19 pandemic. This will be covered in receiving a negative pre-symptomatic genetic testing result and receiving a positive symptomatic genetic testing result.