This decision tool is designed to help you and your family discuss your choices with your MND doctor or genetic counselor. The tool summarizes research and best practice information to help people make decisions about predictive genetic testing for MND. Genetic testing allows people to be aware if they are carrying a fault (or mutation) in an MND gene, so that they can make decisions and plans for their life.
You may not feel ready to read all the information contained in this tool. If so, read the information you wish to know, at the best time for you. If you would like more detailed information, links to other resources are provided in the relevant sections, and in the resources at the end of this tool.
MND is a general term applying to progressive, degenerative disorders affecting the motor neurones.
It is also known as Amyotrophic Lateral Sclerosis (ALS) in Europe and the UK, but in Australia, the term MND is more often used.
Motor neurones carry signals from the brain to the muscles. In people with motor neurone disease, the motor neurones deteriorate and can no longer carry these signals.
This is a gradual process, which causes muscles to waste away. Some people carry genetic faults that predispose them to this motor neurone deterioration, and these people are at
increased risk of developing MND over their lifetime.
Families with a gene fault or a strong family history of MND are known to have familial MND
(also known as "FALS"). About 10% of all people with MND will have familial MND, meaning the risk can be inherited. The remaining 90% of people with MND have
‘sporadic MND’, meaning that only one person in the family has the disease. Age of onset of familial MND varies from family to family and depends on the
gene fault involved. Still, not everyone with a faulty gene will go on to develop MND, and it is important to know that we currently are unable to predict if, when and how MND may affect someone with a faulty MND gene.
A condition called frontotemporal dementia (FTD) can also be caused by some gene faults that can also cause MND. FTD is a form of dementia and associated with changes in behaviour, language and personality. In these families, some family members may have had MND, FTD or a combination of both conditions. MND Australia has more information about MND and FTD
A faulty gene or ‘genetic mutation’ is an error in a person’s genetic code which prevents a gene from working normally. We have around 20,000 genes and no one has a complete working set- we are likely to each have faults in a number of genes. Most people have two fully functioning copies of each gene- one set inherited from their mother,
and the other set inherited from their father.
Usually, a person only needs one faulty copy of any of the genes associated with MND to lead to an increased chance of the disease developing. People with a parent who carries an MND gene have a 50% chance of inheriting the same gene fault. This is known as autosomal dominant inheritance; in other words, when one parent carries the autosomal dominant faulty gene copy.
Diagram adapted from http://www.genetics.edu.au/publications-and-
For more information about genetic mutations that cause MND, please visit the U.S. National Library of Medicine
Genetic testing in family members can allow each person to know whether they have inherited the same faulty MND
gene, and if they are at increased risk of developing disease. Not everyone with a faulty gene will go on to develop MND. However, the chance of developing MND is much higher for
those carrying MND genes. This chance depends on the faulty gene involved, and sometimes even the family specific mutation. At this time, we currently are unable to predict if,
when and how MND may affect someone with a faulty MND gene.
Testing is usually done with a simple blood test. Testing for MND genes is optional, and can only be done with your signed consent. There are two types of genetic testing that can be performed.
You could also elect to provide a blood sample and store it until you or your family have decided to proceed with testing. This can be particularly important if you or other family members felt the timing was not right to undergo genetic testing.
It is also possible that you may be offered ‘confirmatory genetic testing’. This is a test that is done in a family member to confirm whether they carry the gene fault in the family. The test is considered ‘confirmatory’ rather than ‘predictive’ if someone already has symptoms of MND or FTD and therefore are likely to carry the same gene change.
The decision to have genetic testing is completely voluntary. The results are completely confidential, and can’t be shared without your express consent. Even if you choose to share your results with researchers, they will remain anonymous.
Reproductive genetic testing is also possible and is further detailed in "How does genetic testing help me decide about family planning".
Many families find that each member has a different attitude towards having genetic testing, and knowing the results of their test. While some family members may be supportive of your decision to have or to decline testing, others may not. It is your choice who you discuss your decision with.
Your GP can refer you to health professionals who specialise in genetic testing services. Genetic counsellors will be able to provide you with expert information about genetic testing for MND that is specific to your family situation. They also offer support through your decision-making, and as you learn about your results, and what they mean for you. There are many genetic counselling clinics across Australia. The Human Genetics Society of Australia provides a list of public and private options for genetic counselling to help you find a local genetics counselling service.
Other professionals who can provide information include MND doctors and health professionals, advisors from your local MND associations, and your GP. For more information about familial MND, you can also contact the MND team who has treated the person with MND in your family.
MND Australia also provides information and advice for MND patients, carers and family. A fact sheet on genetic testing for familial MND can be found at MND Australia.
(Adapted from https://ghr.nlm.nih.gov/primer/consult/expectations)
During a genetic counselling appointment, the genetic counsellor or other health professional provides information, offers support, and addresses a patient’s specific questions and concerns about a family history of disease, a specific genetic condition and/or genetic testing.
During a consultation, a genetics professional will:
A genetics professional will NOT:
Family planning for people with an inherited condition has always been a complex issue. To assist their decision-making, some familial MND family members decide to have genetic testing in conjunction with In Vitro Fertilisation (IVF). Some IVF clinics can test embryos before they are implanted to determine whether they carry an MND gene.
Pre-implantation genetic diagnosis (PGD) involves screening IVF-generated embryos for genetic conditions prior to embryo transfer. Parents can then choose how they proceed with implantation.
IVF clinics can provide information on pre-implantation genetic diagnosis, and on where this specialist screening is available. They can also provide information on the associated costs and the Medicare rebates available.
As with other inherited conditions, genetic testing can also be conducted after a pregnancy has occurred.
Once a gene mutation has been identified in a family, couples who are planning a family can consider options that may help to prevent a gene mutation being passed on:
Decisions about family planning can be complex. Your genetic counsellor could further discuss these aspects with you, or you could consider referral to an IVF clinic.
The testing must be voluntary, and the person undertaking must be able to give informed consent and be over 18 years of age. If you choose to undergo genetic testing, the results of your test will not be released to others without your formal consent.
Testing costs vary considerably, depending on the type of testing being conducted, and the type of genetics service you access. Many public genetic testing services may provide subsidised or free testing for MND-related genes, especially if you are from a familial MND family. Other services may be expensive, so it is wise to ask about costs beforehand.
Genetics research is attempting to identify new genes that can cause MND. Once we understand how these genes work, new methods of treatment for people living with MND are hoped to be developed.
Some people feel that there is no reason to test for an inherited condition if there is no future generation.
For some, knowing they had the gene fault could have a negative effect on their mood and sense of wellbeing.
Some people experience 'survivor guilt' if they do not have the gene fault, but other family members do.
"I am not ready to have genetic testing now"
"I am hopeful a cure will be found in the future"
Research continues to strive for a cure or effective treatments to stop the impact of MND.
"I worry about how genetic testing results will affect my relationships""My family would be angry if I was tested"
1. I want more certainty about my risk of having MND
2. I want to plan my family knowing my risks
3. I want to be prepared for my future
4. I want to be prepared for the future of my family members
1. Knowing I have an MND gene would be too distressing for me
2. Having genetic testing would upset my family
3. Knowing my result won’t change how I live my life
4. There is no cure yet
1. How important genetic testing is to you overall?
2. Is being tested an important choice for you right now?
1) Genetic testing does not yet test for all the possible genes responsible for MND
2) In predictive genetic testing, a negative result guarantees that you will never get MND
3) Genetic testing for MND has associated financial cost and legal obligations
4) Undertaking or declining genetic testing may have personal and social consequences
1) Do you know the benefits and consequences of each option?
2) Are you clear about which benefits and consequences matter most to you?
3) Do you have enough support and advice to make a choice?
4) Do you feel sure about the best choice for you?
If you are certain that you wish to proceed with predictive genetic testing, please inform your MND health professionals about your decision. They can then arrange referrals and inform you about your local procedures
If you are certain of your decision, please inform you MND health professionals, so that they are aware of your wishes.
If you are uncertain about what to do, you may wish to speak to other family members about making your decision. If you want more information, make time with your genetic counsellor or MND health professionals to discuss your options further. The additional information on next page may also be helpful.
From Australia:Centre for Genetics EducationMND AustraliaFrom the USA: US National Library of Medicine, https://ghr.nlm.nih.gov/primer/consult/expectationsCrook, A, Williams, K, Adams, L, Blair, I & Rowe, DB (2017): Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counseling considerations, Amyotrophic Lateral Sclerosis, and Frontotemporal Degeneration, DOI: 10.1080/21678421.2017.1332079
A Hogden, A Crook
Students: C Poole, W Seach (Macquarie University)
Format adapted from the Ottawa Personal Decision Guide © 2000, A O’Connor, D Stacey, University of Ottawa, Canada.