In most cases of ALS/MND (~90%), there is only one person in a family that has a diagnosis of ALS/MND; this is often referred to as “sporadic” ALS/MND. In a smaller proportion of cases (~10%), there are several individuals within the same family that have been diagnosed with ALS/MND; this is often referred to as “familial” ALS/MND. This raises suspicion for a genetic cause, as families share similar genes.
There are still cases of familial ALS/MND for which the underlying genetic cause is unknown. Similarly, absence of a family history in sporadic ALS/MND does not necessarily mean that there is no underlying genetic cause.
After an individual has been diagnosed with ALS/MND, they may inquire about genetic counselling and testing. All people living with ALS/MND should have access to, and be provided information on, genetic counselling and testing, regardless of whether they have sporadic or familial ALS/MND.
A consultation with a genetic counsellor will involve discussing the individual’s family medical history. The benefits and potential outcomes of genetic tests, and answers to any questions a person may have about the test or potential results, are also discussed. Moreover, a consultation with a genetic counsellor does not mean that a genetic test will be conducted. Instead, individuals use these consultations to decide if genetic testing is right for them.
The results of genetic tests in people with familial ALS/MND could identify a genetic mutation. Identifying a genetic mutation occurs in roughly 60 – 70% of people with familial ALS/MND.
Our understanding on how often ALS/MND associated mutations occur in people with sporadic ALS/MND is currently evolving, as genetic testing becomes more widely available.
A genetic counsellor or other healthcare providers can discuss options with the individual and their family if there is a positive test result.
To learn more about genetic testing and genetic counsellors, please refer to the resources provided below.
Infographics
The following are the Alliance’s infographics on the topic of Genetic Counselling and Testing.
The Alliance and Genetics
ALS/MND Genetically-Targeted Therapy Acceleration Timeline
Ethical Considerations in ALS/MND Genetics
Introduction to Genetics: What is genetic variation?
Introduction to Genetics: What is your genome?
ALS/MND Genetics: Why is genetics relevant to ALS/MND?
ALS/MND Genetics: Can genes affect the type of ALS/MND?
ALS/MND Genetics: What can we do about genetic ALS/MND? / Genética en la ELA/ENM: Qué podemos hacer nosotros sobre la genética en la ELA/ENM?
Resources
The following are resources from Members of the International Alliance of ALS/MND Associations on the topic of Genetic Counselling and Testing.
ETHICAL CONSIDERATIONS FOR GENETICS
A discussion of the risks and benefits of genetic testing in individuals who are symptomatic or have a family history of ALS. Different contexts and potential considerations for individuals who are symptomatic for ALS, with and without a family history of ALS, or those who are asymptomatic for ALS but considering undergoing genetic testing will be discussed
GENETICS – COUNSELLING & TESTING
The Alliance´s Fundamental Rights were updated in 2021 to include the right to have access upon diagnosis to genetic counselling and testing. There are numerous therapies in development for the genetic forms of ALS/MND. For people living with ALS/MND to be able to access clinical trials, and future potentially approved therapies, access to both genetic counselling and testing will be necessary. This webinar touched on; what is genetic counselling and role of a genetic counsellor, what is involved in genetics counselling & testing, availability, awareness of ethical issues surrounding genetic testing , psychological effects of genetic testing and tackling difficult concepts in ALS/MND clinical genetics.
Introduction to ALS/MND Genetics
Recent discoveries are adding significant knowledge to the understanding of genetics in ALS/MND and potential treatments. This webinar provided an overview of the current ALS/MND landscape and an understanding of genetics, so that people impacted by ALS/MND and their families have the basic tools to understand what this means and their options.
Inherited MND: Introduction
This guide provides an introduction to understanding inherited ALS/MND. It was created by the MND Association (MNDA) as part one of a three guide series. Part one discusses what to consider, such as genetic testing and finding care and support when undergoing these types of consultations.
https://www.mndassociation.org/app/uploads/2019/02/B1-Introduction-to-inherited-MND.pdf
Language: English
Subject Areas: Genetic Testing, Genetic Counselling, For People with ALS/MND, For Caregivers
Genetic Testing for ALS: Fact Sheet
This short fact sheet provides people living with ALS/MND and caregivers information about genetic testing. This includes a description of how genes may play a role in ALS/MND, what the tests look for, and what a positive test means.
https://www.als.ca/wp-content/uploads/2017/04/ALSCAN-GeneticTesting-EN.pdf
Language: English
Subject Areas: Genetic Testing, For People with ALS/MND, For Caregivers
Genetic Testing For ALS
This resource is provided by the ALS Association (ALSA) for people living with ALS/MND. Information about genetic counselling and its benefits are provided. Additionally, this resource supplies information on how genetic testing works and the pros and cons of genetic testing for people living with ALS/MND and their caregivers or family members.
https://www.als.org/understanding-als/who-gets-als/genetic-testing
Language: English
Subject Areas: Genetic Testing, Genetic Counselling, For People with ALS/MND, For Caregivers
Familial ALS
ALSA created this booklet as a resource for people living with ALS/MND and caregivers to learn more about the science behind genetic testing and when a person may want to receive genetic testing. In addition, this booklet discusses the positive and negative implications that a person may need to consider before genetic testing.
https://www.als.org/sites/default/files/2020-04/Familial-ALS-Booklet-DIGITAL-04-17-18.pdf
Language: English
Subject Areas: Genetic Testing, Genetic Counselling, For People with ALS/MND, For Caregivers
About Genetic Counselors
This website is often referred to by ALSA for individuals to learn more about genetic counselling and how they can be a part of your multidisciplinary healthcare team. Although based in the United States, this resource provides foundational information that may benefit individuals living with ALS/MND globally.
https://www.nsgc.org/About/About-Genetic-Counselors
Language: English
Subject Areas: Genetic Counselling, Multidisciplinary Healthcare Team, For People with ALS/MND, For Caregivers