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International Alliance of ALS/MND Associations

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Genetic Counselling & Testing

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.

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?

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

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Care services

  • Genetic Counselling & Testing
  • Mental Health Support
  • Nursing and Symptom Management
  • Nutrition and Swallowing
  • Occupational Therapy and Activities of Daily Living
  • Physiotherapy and Mobility
  • Respiratory Care
  • Speech Therapy and Communication
  • Support for Family & Caregivers
  • Technology

  • Steven Spencer, Diagnosed 2014 - MND New Zealand

    Steven Spencer, Diagnosed 2014 – MND New Zealand

  • Jeff Sutherland

    Jeff Sutherland
    jspic

  • Jack Buzby, USA

    Jack Buzby, USA

  • Angie Bordaen, Diagnosed 2014 - ALS Liga België, Belgium

    Angie Bordaen, Diagnosed 2014 – ALS Liga België, Belgium

  • Sally Pauls, Diagnosed 2006 - Les Turner ALS Foundation

    Sally Pauls, Diagnosed 2006 – Les Turner ALS Foundation

  • Roxana Canova, Diagnosed 2012 - Asociación ELA Argentina

    Roxana Canova, Diagnosed 2012 – Asociación ELA Argentina

  • Ian Roberts

    Ian Roberts

  • Stephanie Christiansen Hall, Canada

    Stephanie Christiansen Hall, Canada

  • Catherine Pearce, Australia

    Catherine Pearce, Australia

  • Fabio Carvalho

    Fabio Carvalho

  • Steven Gallagher, Canada

    Steven Gallagher, Canada

  • Robbie Caliste, UK

    Robbie Caliste, UK

  • Danny Reviers, Diagnosed 1979 - ALS Liga België, Belgium

    Danny Reviers, Diagnosed 1979 – ALS Liga België, Belgium

  • Luis Antonio Pimenta Lima, Brazil

    Luis Antonio Pimenta Lima, Brazil

  • Juvenal Bayona Romero

    Juvenal Bayona Romero

  • Carlos Alberto Arango, Colombia

    Carlos Alberto Arango, Colombia

  • Brian Lovell, Diagnosed 2011 - MND Australia

    Brian Lovell, Diagnosed 2011 – MND Australia

  • Ali Var, Turkey

    Ali Var, Turkey

  • Roy

    Roy
    roy

  • Brigitte Wernli, Association ALS Switzerland, Diagnosed 2014, Switzerland

    Brigitte Wernli, Association ALS Switzerland, Diagnosed 2014, Switzerland

  • Peng Yi-Wen

    Peng Yi-Wen

  • Duncan Bayly - MND Australia

    Duncan Bayly – MND Australia

  • Ailsa Malcolm-Hutton, Diagnosed 2013 - MND Association of England, Wales and N Ireland

    Ailsa Malcolm-Hutton, Diagnosed 2013 – MND Association of England, Wales and N Ireland

  • Philip Brindle, MND Association, Diagnosed 2015, England

    Philip Brindle, MND Association, Diagnosed 2015, England

  • Osiel Mendoza, Diagnosed 2016 - ALS Therapy Development Institute, USA

    Osiel Mendoza, Diagnosed 2016 – ALS Therapy Development Institute, USA

  • Chun Ju Xiao, China

    Chun Ju Xiao, China

  • Art Eggert, USA

    Art Eggert, USA

  • Mark Miller

    Mark Miller

  • Erwin Coppejans, Diagnosed 2007 - ALS Liga België, Belgium

    Erwin Coppejans, Diagnosed 2007 – ALS Liga België, Belgium

  • Christian Bär, Germany

    Christian Bär, Germany

  • England-Lee-Millard, UK

    England-Lee-Millard, UK

  • Ann Nicol

    Ann Nicol

  • Elkin Ramiro Gaviria Muñoz, Diagnosed  December 2018

    Elkin Ramiro Gaviria Muñoz, Diagnosed December 2018

  • Joanne Pratt, Diagnosed 2011 - MND Australia

    Joanne Pratt, Diagnosed 2011 – MND Australia

  • UK-Mahmood-Anwar

    UK-Mahmood-Anwar

  • Elisabeth Zahnd, Switzerland

    Elisabeth Zahnd, Switzerland

  • Norm MacIsaac, ALS Society of Canada, ALS Society of Quebec, Diagnosed 2014, Canada

    Norm MacIsaac, ALS Society of Canada, ALS Society of Quebec, Diagnosed 2014, Canada

  • Chen Chun-Chin

    Chen Chun-Chin

  • Frank "Papa" Taylor

    Frank “Papa” Taylor

  • David Bishop

    David Bishop

  • Jon Newsome, Les Turner ALS Foundation, USA

    Jon Newsome, Les Turner ALS Foundation, USA

  • Valdomiro Xavier Honório, Brazil

    Valdomiro Xavier Honório, Brazil

  • Willi Klein

    Willi Klein

  • Lachlan Terry, MND Australia, Diagnosed 2015, Australia

    Lachlan Terry, MND Australia, Diagnosed 2015, Australia

  • Denis Blais, Diagnosed 2015 - ALS Canada

    Denis Blais, Diagnosed 2015 – ALS Canada

  • Sanjay Kumar Srivastava, Asha Ek Hope Foundation for ALS/MND, Diagnosed 2018, India

    Sanjay Kumar Srivastava, Asha Ek Hope Foundation for ALS/MND, Diagnosed 2018, India

  • Antonio Ventriglia, ALS Liga Belgium, Diagnosed 2013, Belgium

    Antonio Ventriglia, ALS Liga Belgium, Diagnosed 2013, Belgium

  • Wilfried Leusing, Diagnosed 2010 - DGM, Germany

    Wilfried Leusing, Diagnosed 2010 – DGM, Germany

  • Orlando Ruiz, Diagnosed 2001 - ACELA, Colombia

    Orlando Ruiz, Diagnosed 2001 – ACELA, Colombia

  • Fernando Ocampo Cardona, Colombia

    Fernando Ocampo Cardona, Colombia

Learn more about the March of Faces

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