Messages to healthcare professionals: Living with inherited MND and genetic testing

People we spoke to had advice and messages for healthcare professionals and other organisations supporting families affected by inherited MND, covering a range of areas:

  • Living with an increased genetic risk of developing MND
  • Genetic testing after a diagnosis of MND
  • Pre-symptomatic genetic testing

Lizbeth summed up what many people thought in recommending professionals should “be kind and informative and listen”. There was generally a lot of praise for the empathy and understanding shown by staff, even when working under pressure.

Living with an increased genetic risk of developing MND

People emphasised the importance for professionals to recognise the possible emotional impact of living with an increased genetic risk of developing inherited MND. Calum’s advice was, “don’t forget the mental consequences that come with diagnosis of someone with an inherited condition, because they’re not obvious on the first day”. Kirsty’s advice to healthcare professionals was to “appreciate that everybody will react differently… there’s not necessarily rhyme or reason to what is causing the most fear”.

Richard emphasises the “mental baggage” of living with an increased chance of developing inherited MND. It’s important for healthcare professionals to acknowledge this “bigger picture”.

People felt there should be professional support available to help them manage this knowledge and cope with how it affected them. Lexi gave several suggestions:

Although “the number one focus” should be on the person with MND, Lexi feels it is important not to forget family members, who could be affected in the future.

Other things people suggested included:

  • Support around talking to children about inherited MND. Some people weren’t sure how best to approach such conversations or when to share information on the family history and genetic risk
  • Pointers to reliable and accessible information, which could be difficult to find
  • A register or repository with details of research studies to find out the latest research and be able to volunteer
  • Recognising that people’s information needs may vary, depending on their circumstances. Not everyone wants to know everything all at once

Paul wouldn’t have wanted lots of information on inherited MND when his mum was unwell; it would have been “swallowed” by his focus on supporting her.

  • Bereavement counselling after a family member has died, tailored to inherited conditions
  • Fast track referrals if worrying symptoms appear
  • Being realistic with people but also offering hope, given that it is unpredictable whether people will develop the condition

Genetic testing after a diagnosis of MND

Families had a range of experiences of genetic testing after a diagnosis of MND. People had several suggestions around genetic testing which they felt were important for healthcare professionals to consider:

  • Recognising the potential impact of genetic testing results for family members – finding out the genetic variant of MND in the family and the possibility of inheritance was upsetting and scary for some people
  • Having dedicated time to discuss the implications of genetic testing for family members, who may have questions of their own

In hindsight, Louisa feels that the decision for her mum to have genetic testing after her diagnosis was made too quickly. The test results are “a big nugget of information that I don’t know what to do with”.

  • Encouraging and supporting people to think through family communication around genetic testing and sharing results
  • Using accessible language when sharing results, and making sure people know where they can go for more information

Pre-symptomatic genetic testing

People also had advice and messages for healthcare professionals around pre-symptomatic genetic testing:

  • People wanted to be given standard and accessible information on the genetic counselling and testing process.
  • It could be helpful to have written/ recorded information to take away, to recap the information given in genetic counselling and to share with other family members.
  • It is important for healthcare professionals to respect individual views on genetic testing. As John said, “People have different ideas and approaches and shouldn’t be pushed one way or another”.

Kelly thinks it’s important that genetic counsellors avoid “medical jargon” when talking to people, and don’t make them doubt their decisions on pre-symptomatic genetic testing.

  • People emphasised the need for consistent practice around the pre-symptomatic genetic testing process.
  • It’s important to know what to expect in terms of the timetable for getting results and how they will be delivered.
  • Individuals should be told how the results will be presented to avoid surprise or confusion.
  • GPs should be made aware of services available to support people in making decisions around pre-symptomatic genetic testing.

People emphasised that individuals need different levels of support after receiving their result, but the importance of offering ongoing professional support to those who were given a positive pre-symptomatic genetic test result was highlighted. Not being offered such support had a negative impact on some people, who described feeling “at sea” or “abandoned”. Jade feels post-test support should be “mandatory”.

In Jade’s experience, receiving support after pre-symptomatic genetic testing is “off your own back”. She questions whether people with a positive result could be referred to a dedicated counsellor.

Other suggestions for post-test support included:

  • Having someone to talk to who could check how the individual and their family were coping. As Lizbeth said, “It would’ve been really useful to have somebody to help me come to terms with it”.
  • If genetic counsellors are not able to provide such support, people felt that they should signpost to other resources and services.
  • Being given a standard information sheet with advice on where to find out about participating in research and any next steps, such as whether people would benefit from being monitored by a healthcare professional.
  • Being offered ongoing monitoring to assess health. Having ongoing monitoring was reassuring for some people.
  • Hearing other people’s experiences or having contact with someone in a similar situation.

Receiving a negative result could also be accompanied by a range of emotions. People in this situation would appreciate:

  • Information on how to raise awareness on inherited MND
  • Information on how to best support other family members who had an increased chance of developing the disease in the future.

From her experiences of genetic counselling and testing, Jade’s message was “thank you”, “everything they’ve done for me has been perfect, so I can’t tell them to do it any better”.