On this page

• Key points
• Familial or inherited MND
• Genetic testing and counselling
• What genetic counsellors do
• Options for people planning to start a family
• Genetic testing - some challenges
• More information

Key points

• Research suggests that MND develops due to a combination of risk factors, some of which are genetic.
• Familial MND is when more than one person in a family has been diagnosed with MND and/or there is a known gene change in the family that predisposes people to MND. 
• Up to 15% of MND is ‘familial’. 
• Gene changes can be detected through genetic testing.
• If you are living with MND, and choose to get tested, this is called diagnostic genetic testing. Diagnostic testing checks for changes in genes that can cause MND.  
• If someone in your family has been diagnosed with MND, and has a known gene change, you may wonder if you have inherited the gene change. In this case the test is called predictive genetic testing. 
• There are benefits and limitations with genetic testing. Choosing whether to get tested is a personal decision. 
• Genetic counselling can give you the information and support to help you decide.
• Some of the current challenges with genetic testing include access to counselling and testing, variable costs, and potential impacts on life insurance.

Familial or inherited MND

In around 15% of people diagnosed with MND, a gene change is present and inherited from a parent.¹ This is referred to as ‘familial’ or inherited MND. 

Within families affected, the disease may present at different ages. It can affect different parts of the body and progress at different rates. There may also be a family history of frontotemporal dementia (FTD). This is because changes in the C9orf7 gene, which can cause familial MND, can also cause FTD.²

Some people who don’t have a family history of MND (sporadic MND) can still have a change in the genes that cause MND.³

What is a gene change?

A gene change is an error in the genetic DNA code that causes a gene to work abnormally. It is sometimes called a ‘gene mutation’ or ‘gene fault’. A gene change can be passed on from a parent to a child. If a person has an MND-related gene change, each child has a 50/50 chance of inheriting it.⁴

If the gene change is present in your family, you have a higher risk of being diagnosed with MND. However, it doesn’t mean you will definitely develop MND. Other triggers may be needed for MND symptoms to begin.

The most common MND-related genes are:

• C9ORF72
• SOD1
• FUS
• TDP-43

Genetic testing and counselling

Deciding whether to have genetic testing is a personal decision. Some people will want to find out if they carry a MND-related gene change, while others will not. Genetic testing is done by collecting DNA, typically from a small blood sample or cheek swab.

Reasons to consider genetic testing include: ⁵

• to understand if there is a genetic cause to your disease (if you have MND)
• to clarify whether or not you are at risk of developing MND (if a MND-related gene change has been found in your family)
• to access potential treatments that are specific to certain genetic types of MND
• to access current and/or future clinical trials or research studies specific to genetic types of MND
• to give information to your family members about their risk of developing MND in the future
• to potentially enable the gene change (if identified) from being passed to future generations.

Diagnostic genetic testing and MND

If you have a diagnosis of MND, the genetic test checks for a known change in one or several genes associated with MND. This is called diagnostic genetic testing. 

Your neurologist may suggest genetic testing, especially if there is a known family history of the disease. You may also want to know if a gene change is involved. 

If you are thinking about getting tested, you can ask your neurologist for more information. Sometimes diagnostic genetic testing may be arranged by your neurologist or MND clinic. Alternatively, you may be referred to a genetic counselling service. 

If you or your family are unsure or not ready yet, it is possible to store a DNA sample until you are ready. This may help family members in the future. To arrange this, you can talk with your neurologist or ask to be referred to a genetic counselling service. 

Predictive genetic testing and MND

If someone in your family has been diagnosed with MND, and has a known gene change, you may wonder if you have also have the gene change. When there is a known gene change within a family, the test is called predictive genetic testing. 

Predictive testing can only be ordered by a trained genetic specialist. Your GP can refer you to a genetic counselling service where you can speak to someone who will help you to better understand the process. Predictive testing typically involves having one or more appointments with a genetic counsellor and/or a geneticist (a doctor with specialised training). 

Predictive genetic testing is usually only accessible when there is a known MND-related gene change in the family. If there is a history of MND in your family, but there isn’t a known gene change, you may still be able to access genetic counselling to further discuss your risk of MND.

What do genetic counsellors do?

There’s a lot to consider with genetic testing. 

If you are thinking about getting tested, a genetic counsellor can help you decide what the test results could mean for you and your family. Genetic counsellors are not psychologists; they are trained in medical genetics and counselling. Their role is to give information, support and guidance throughout the genetic testing process. 

Genetic counsellors can assist with the following:

• give information about genetic testing and how it works
• explore your family history and look at your family tree
• explore the benefits and limitations of genetic testing
• explain your options
• help you to explore what the results might mean for you and others
• help you make an informed decision about whether to proceed with testing
• talk through the results with you and help you adjust to the news
• support you in communicating results to family members.

Telehealth is available for people who live in regional and remote areas and are unable to attend a face-to-face session.

You can find out about specialist genetic counselling services in Australia, via these websites:

• Public genetics services – Centre for Genetics Education 
• Private genetics services – Human Genetics Society of Australasia

What information do I need when being referred to a genetic counselling service?

If you have been referred to a genetic counselling service to discuss your family history of MND, it’s a good idea to gather the following to share with your genetic counsellor:

• family history information of MND, dementia, Parkinson’s or similar conditions
• documents confirming a clinical diagnosis in a relative
• family letter from a genetic service or any previous genetic testing reports from other family members.

What are my options if I am planning to start a family?

If you have a family history of MND and are planning to start a family, you may be concerned about passing on an MND-related gene change. Genetic counsellors can give information and support and discuss reproductive options. You can also talk to your GP or a psychologist.

If you know which gene change is causing MND in your family, and would like to consider testing, there are two main options: 

Pre-implantation genetic testing (PGT-M) 

PGT-M is a specialised type of in vitro fertilisation (IVF). In PGT-M, embryos are created outside the body and tested for the presence/absence of the MND gene change. Only unaffected embryos are considered suitable to be placed into the womb.⁶

IVF clinics offering PGT-M can provide further information on PGT-M. They can also provide information on the associated costs and the Medicare rebates available.

Prenatal diagnosis (PND)

Prenatal diagnosis (PND) testing is done during pregnancy. The test checks to see whether the baby also has the gene change.

PND testing typically includes:

• Chorionic villus sampling (CVS) 
• Amniocentesis.⁷ 

PND testing takes place in the first or second trimester.

For more information visit The Centre for Genetics Education or speak to a genetic counselling service. 

Additional options include: 

Having children without genetic testing 

This means accepting the chance that the genetic condition may be passed on to your child.

Having children using donor eggs or sperm 

This involves having in vitro fertilisation (IVF) using eggs or sperm from a donor, rather than from the parent at risk of MND. This ensures you avoid passing on the genetic condition.

I don’t want to know if I carry my family’s gene change. Can I still access testing to inform family planning?

If you don’t want to know if you have inherited the gene change, exclusion testing may be an option. Exclusion testing can be done using PGT-M and PND to identify if a baby/embryo is at risk, without revealing the parent’s genetic status.

Genetic testing – some challenges

Accessing genetic testing

Not everyone can access testing, even if they would like to get tested. It can be especially difficult in cases where there isn’t already a known gene change within a family, and you don’t have a confirmed diagnosis of MND, even if there is MND within the family. 

Assuming you decide to get tested, and can get access, the process can be slow. Once you have had the test, it may take up to 6 months to get your results. You will be contacted once the result is available. Check with your doctor if you have not received your results within 6 months.⁸ 

Testing costs

Some genetic services may give subsidised or free testing for MND-related genes. This only applies if you have a diagnosis of MND or if someone in your family carries a known gene change.

Some services may be expensive. Cost depends on the following:

• the type of testing conducted (diagnostic or predictive) 
• the type of genetic services you access (public versus private). 

Ask your neurologist or genetic counsellor how much tests will cost before proceeding with testing.

Life insurance

Right now, there are rules in place that stop insurers using your genetic test results to refuse you basic life insurance or charge you more for it. 

This means you do not need to disclose your test results as part of a life insurance application if applying for cover below a specific threshold (typically a minimal level of cover). 

The Australian Government plans to ban life insurers from refusing cover or increasing charges due to genetic test results.⁹ However, the ban is not yet in place.

For more information about genetic testing and insurance, visit The Centre for Genetics Education or speak to a financial advisor. 

More information

Support and services

• The Centre for Genetics Education Maintains a national list of public genetic counselling services across Australia and a life insurance fact sheet. 

• Human Genetics Society of Australasia Has a list of public and private genetic counselling services across Australia.
• Fertility Society ANZ IVF and pre-implantation genetic testing for monogenic disorders (PGT-M). 
• My MND Gene Test Decision aids for people living with MND, and people who have a known gene change in their family (UK)

• MND Genies Online support network (member-only Facebook group for people who have MND-related gene change, but do not have MND).
• C9orf72 Support Group Online support network (member-only Facebook group for people who have the C9orf72 gene change, as well as caregivers, friends/family, and anyone else who wants to know more).
• MND Decision Making Tools Online tools to help people at risk of an inherited gene change make decisions whether to get tested.
• My ALS Decision Tool – Genetic testing and counselling Decision tool developed by the Les Turner ALS Foundation (USA) to help you explore your options.
• Inherited MND – healthtalk.org Series of interviews with people living with familial MND (UK)
• Inherited MND & Genetic Testing - MND Association booklet (UK).

Updates, facts and insights

• Project MinE An international research collaboration helping find many genetic mutations.  
• Human Genetics Society of Australia 
• ALS Canada gene hub - a comprehensive suite of resources about ALS research and support (Canada).

For more information about familial MND contact:

• the neurologist who is treating, or treated, you or the person in your family with MND
• your local state MND Association