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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

  • John and Loretta Russo, USA

    John and Loretta Russo, USA
    final3878

  • Alejandro Aquino, Diagnosed 2011 - Asociación ELA Argentina

    Alejandro Aquino, Diagnosed 2011 – Asociación ELA Argentina

  • Dorette Lüdi, Diagnosed 2014 - ALS Schweiz, Switzerland

    Dorette Lüdi, Diagnosed 2014 – ALS Schweiz, Switzerland

  • Elisabeth Zahnd, Switzerland

    Elisabeth Zahnd, Switzerland

  • Timothy Holman, Switzerland

    Timothy Holman, Switzerland

  • Valdomiro Xavier Honório, Brazil

    Valdomiro Xavier Honório, Brazil

  • Len Johnrose, MND Association, Diagnosed 2017, England

    Len Johnrose, MND Association, Diagnosed 2017, England

  • Conny van der Meijden, Diagnosed 2001 - ALS Netherlands

    Conny van der Meijden, Diagnosed 2001 – ALS Netherlands

  • Catherine Pearce, Australia

    Catherine Pearce, Australia

  • Alberto Baez Murillo, Colombia

    Alberto Baez Murillo, Colombia

  • Fernando Ocampo Cardona, Colombia

    Fernando Ocampo Cardona, Colombia

  • David Watson, MND Scotland, Diagnosed 2018, Scotland

    David Watson, MND Scotland, Diagnosed 2018, Scotland

  • Steven Gallagher, Canada

    Steven Gallagher, Canada

  • Carlos Gomez Matallanas, Diagnosed 2014 - FUNDELA, Spain

    Carlos Gomez Matallanas, Diagnosed 2014 – FUNDELA, Spain

  • Richard Clark, MND New Zealand, Diagnosed 2011, New Zealand

    Richard Clark, MND New Zealand, Diagnosed 2011, New Zealand

  • Fabio Carvalho

    Fabio Carvalho

  • Irene McCaughey, Diagnosed 2011 - MND Australia

    Irene McCaughey, Diagnosed 2011 – MND Australia

  • England-Lee-Millard, UK

    England-Lee-Millard, UK

  • Zelina-Brito-Diagnosed-2018-Brazil

    Zelina-Brito-Diagnosed-2018-Brazil

  • 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

  • Fabrice Kamp, Germany

    Fabrice Kamp, Germany

  • Liong Ting Ngu, MND Malaysia, Diagnosed 2014, Malaysia

    Liong Ting Ngu, MND Malaysia, Diagnosed 2014, Malaysia

  • Peng Yi-Wen

    Peng Yi-Wen

  • Daniel Hare

    Daniel Hare

  • Phil Rossall, MND-Association, UK

    Phil Rossall, MND-Association, UK

  • Chris McCauley, Diagnosed 2015 - ALS Canada

    Chris McCauley, Diagnosed 2015 – ALS Canada

  • Jon Newsome, Les Turner ALS Foundation, USA

    Jon Newsome, Les Turner ALS Foundation, USA

  • Ali Var, Turkey

    Ali Var, Turkey

  • Colm Francis Davis, Ireland

    Colm Francis Davis, Ireland

  • Soledad Rodriguez, FUNDELA, Diagnosed 2013, Spain

    Soledad Rodriguez, FUNDELA, Diagnosed 2013, Spain

  • Art Eggert, USA

    Art Eggert, USA

  • Brian Lovell, Diagnosed 2011 - MND Australia

    Brian Lovell, Diagnosed 2011 – MND Australia

  • 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

  • Kirsten Harley, Diagnosed 2013 - Australia

    Kirsten Harley, Diagnosed 2013 – Australia

  • Marcel R. Wernard, Diagnosed 2016 - ALS Patients Connected, The Netherlands

    Marcel R. Wernard, Diagnosed 2016 – ALS Patients Connected, The Netherlands

  • David Bishop

    David Bishop

  • Juvenal Bayona Romero

    Juvenal Bayona Romero

  • Ann Nicol

    Ann Nicol

  • Ian Roberts

    Ian Roberts

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

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

  • Jack Buzby, USA

    Jack Buzby, USA

  • Sally Pauls, Diagnosed 2006 - Les Turner ALS Foundation

    Sally Pauls, Diagnosed 2006 – Les Turner ALS Foundation

  • Josée Kolijn-de Man, Diagnosed 2015 - ALS Patients Connected, The Netherlands

    Josée Kolijn-de Man, Diagnosed 2015 – ALS Patients Connected, The Netherlands

  • Christian Bär, Germany

    Christian Bär, Germany

  • Cath Muir

    Cath Muir
    Cath

  • Zabun Nassar, MND Association, Diagnosed 2016, England

    Zabun Nassar, MND Association, Diagnosed 2016, England

  • Inta Grubb, Diagnosed 2014 - MND Australia

    Inta Grubb, Diagnosed 2014 – MND Australia

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

    Erwin Coppejans, Diagnosed 2007 – ALS Liga België, Belgium

  • Wilfried Leusing, Diagnosed 2010 - DGM, Germany

    Wilfried Leusing, Diagnosed 2010 – DGM, Germany

  • 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

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