How to Discuss Genetic Testing With Your Doctor

Your doctor and genetic counselor are your best sources for answers to your questions about genetic testing, but sometimes it can be difficult to start the conversation. Here are some questions that you can use to get your conversation started:

  • Why should I get a genetic test?
  • What are the benefits and costs of a genetic test?
  • How long will it take for me to get my results? How will I receive them?
  • What should I do after I get my results?

The ALS Genetics Discussion Guide

The ALS Association developed the ALS Genetics Discussion Guide to help people with ALS, caregivers and health care providers talk about the genetics of ALS. With this guide, we hope to lead the entire ALS community toward more effective and productive discussions about an ALS diagnosis. Click here to download the guide.

The first step in any conversation about genetic testing is to review your family history to find out if anyone else in your family has also had ALS. This can help determine whether ALS is considered singleton (or sporadic cases are when a person with ALS has no family history of the disease) -- or whether it is considered familial (when a person with ALS has a family history of the disease).

An ALS mutation may have been inherited from a parent who never had ALS or could be new in the affected person. In most cases of singleton or sporadic ALS, no genetic cause is found, and lifestyle, environmental, or other risks may have contributed to ALS occurring.

Although a genetic test may identify a cause for both singleton ALS and familial ALS cases, it is more likely to identify a genetic cause in familial cases.

After reviewing family history information and performing genetic testing, a person’s ALS can be classified in the following ways:


Genetic Testing and Counseling Working Group

This Discussion Guide is the product of a multi-stakeholder Genetic Testing and Counseling working group convened by The ALS Association. The working group formed as follow-up of challenges identified in genetic testing and counseling during the spring 2020 ALS Roundtable meeting focusing on Reducing Time to Diagnosis.

Thank you to all our working group members for their time and talent to develop the ALS Genetic Discussion Guide.

The Genetic Testing and Counseling Working Group Members are:

  • Dr. Jinsy Andrews, Columbia University Medical Center
  • Dr. Michael Benatar, University of Miami
  • Sellam Birhane, The ALS Association
  • Kristina Bowyer, Ionis Pharmaceuticals
  • Cathy Cummings, International Alliance for ALS/MND Associations
  • Dr. Eleonore Dubois, Biogen
  • Megan and Drew Duffy, ALS Focus Patient and Caregiver Advisory Committee Member
  • Elizabeth Harrington, Columbia University Medical Center
  • Dr. Steve Kolb, Ohio State University Medical Center
  • Megan Murphy, Biogen
  • Lora Polari-Welbes, ALS Focus Patient and Caregiver Advisory Committee Member
  • Jennifer Roggenbuck, Ohio State University Medical Center
  • John Russo, ALS Focus Patient and Caregiver Advisory Committee Member
  • Wendy Selig, WSCollaborative
  • Dr. Neil Thakur, The ALS Association
  • Dr. David Weinstein, Apellis Pharmaceuticals
  • Dr. Jill Yersak, The ALS Association
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