ALS & Genetics

ALS & Genetics

Genetic testing for people living with ALS

All people living with ALS, regardless of clinical presentation or family history, should have the option of genetic counseling and genetic testing.
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The My ALS Decision Tool™, a first-of-its-kind in the US, online, interactive guide, can walk you through the genetic testing process, the benefits and downsides of genetic testing, and help you make an informed decision. The next time you meet with your ALS care team you can provide them with your decision and ask about next steps.

What is a genetic counselor?

A genetic counselor is a health care provider who specializes in genes and how they affect our health.  They are here to help you before, during, and after the genetic testing process. Your doctor and/or genetic counselor will provide you with the education and support you need to make an informed decision about genetic testing. If you choose to undergo genetic testing, your doctor or counselor will help you understand the implications and determine next steps.

To schedule an appointment with a genetic counselor at Northwestern Medicine, please call 312.695.7950.

If you are looking to find a genetic counselor in your area, talk to your ALS Care Team or contact The National Society of Genetic Counselors.

Evidence-Based Consensus Guidelines on Genetic Counseling and Testing in ALS

The practice of genetic testing in ALS has been impacted by high patient demand for testing, sponsored testing programs, and a newly approved FDA gene-targeted therapy in ALS. However, many challenges exist, including few genetic counselors in ALS clinics, and issues with laboratory methods and reporting. 

To learn more watch Jennifer Roggenbuck, MS, CGC, from The Ohio State University, Wexner Medical Center, discuss new evidence-based, consensus guidelines for genetic counseling and testing in ALS.

What can I learn from genetic testing?

With genetic testing you may be able to learn
Develop a support system
If the type of ALS you have is linked to a pathogenic variant.
Develop a support system
If you can participate in certain clinical trials (research studies where participants try new medical treatments) or other research studies.
Develop a support system
If there are more effective ways to manage your ALS symptoms. In 2023, the FDA granted accelerated approval of Biogen’s Qalsody for treatment for SOD1-ALS. Qalsody is the first FDA-approved treatment to target a genetic cause of ALS. Talk to your ALS care team to learn more about Qalsody.
Develop a support system
If you’re likely to experience other symptoms in the future, like cognitive changes (changes in how you think and behave).
Develop a support system
If your children or other family members are more likely to develop ALS and related conditions.
To learn more about ALS and family planning view this webinar from our ALS Learning Series. Lisa Kinsley, MS, CGC, genetic counselor at the Lois Insolia ALS Clinic at the Les Turner ALS Center at Northwestern Medicine, explains genetic testing and reviews family planning options available for those who are interested in reducing the risk of passing on a genetic condition.
Pathogenic Variant
A pathogenic variant is a difference in specific genes that can cause people to develop ALS. Genetic testing may tell you if your specific type of ALS was linked to a pathogenic variant.
Genes
There are over 40 different known genes that are associated with ALS, and researchers are still discovering more. The most common are:

SOD1
TARDBP

FUS
C9ORF72

Frontotemporal dementia
Frontotemporal dementia or FTD is a term used to describe significant cognitive changes related to ALS and other neurological conditions. FTD can affect the way people think, feel, and interact with others.

Predictive testing for family members at risk

Some people who know they have a family history of ALS may choose to get genetic testing, even if they haven’t developed symptoms yet, because they want to know whether they may develop ALS in the future. This is referred to as predictive testing. Whether someone chooses to do predictive testing is entirely up to them. A genetic counselor should be involved throughout the entire process.

We are working on developing a decision tool for people at risk of developing ALS. If you would like to be involved, email us at education@lesturnerals.org.

How does genetic testing work?

If you choose to get genetic testing, you’ll meet with a doctor or a genetic counselor (a health care provider who specializes in genes and how they affect our health). After you discuss the possible pros and cons of genetic testing with your doctor or genetic counselor, they’ll order the tests you need.
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Here’s how the genetic testing process works:

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Step 1: Your doctor or counselor will ask you to provide a DNA sample. This could be a sample of your blood or saliva.
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Step 2: Your doctor or counselor will send your sample to a lab. The genetic testing lab will “read” your DNA and look for pathogenic variants (differences in specific genes that may cause people to develop ALS). This step usually takes about 4 to 6 weeks.
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Step 3: Your doctor or counselor will explain your testing results. They may also tell you about treatment options or offer guidance to help you and your family plan for the future. You can ask your doctor or counselor for a copy of your testing results. It’s a good idea to save your results in a safe place, so you or your loved ones can look back at them later.

How much does genetic testing cost?

Genetic testing can be expensive, but there are ways to make it more affordable. Your doctor or genetic counselor can check with your health insurance company to find out if they will cover some or all of the cost. Some genetic testing companies may work together with your insurance company to cover the cost, too. You can also ask your doctor or counselor about programs that provide genetic testing at no cost to people living with ALS.

Are there any insurance or other ethical considerations?

Genetic discrimination may be a concern for you or for your family members – for most people protections exist for health insurance and employment discrimination, but do not apply to other policies like life insurance or long-term care policies.

For more in-depth information on insurance, genetic testing and other ethical considerations, this webinar from the International Alliance of ALS/MND Associations provides a great overview, along with a handout to reference later.

WATCH: Ethical Considerations for Genetics

Insurance

What are the results of genetic testing?

When you receive your genetic testing results, the report will say any of the following:
Positive Result

Positive Result

Means that a pathogenic variant related to ALS was found in your DNA.
Negative Result

Negative Result

Means that no pathogenic variant related to ALS was found in your DNA.
Uncertain Result

Uncertain Result

Referred to as a Variant of Uncertain Significance (VUS). This means that a variant was found, but it is not currently known to be related to ALS.

Emotions associated with genetic testing

The genetic testing process may be overwhelming or confusing at times. You may feel anxious as you wait for your results. Learning about your results may bring up difficult emotions for you and your loved ones, too.

For example, you might feel excited or relieved to get answers about the cause of your ALS. Or, if you don’t get the information you were hoping to learn, you might feel sad or frustrated. If you choose to share genetic testing results with your family members, they may have strong feelings about your results and their own risk of developing ALS.

Some people may choose not to get genetic testing for these or other reasons. No matter what you decide, your ALS care team is here to listen and support your decision.

Remember, you get to choose:

Whether to have genetic testing

What to do with the information you learn from genetic testing

Who to share your results with

Tips for sharing your genetic testing results with family

The genetic testing process can be overwhelming or confusing at times. You may feel anxious as you wait for your results. Learning about your results may bring up difficult emotions for you and your loved ones, too.

When sharing genetic testing results with your family members, they may have strong feelings about your results and their own risk of developing ALS. Here are some helpful tips for sharing your genetic testing results with family if, you choose to.

You are not alone.
You are not alone. A genetic counselor can help you every step of the way. Genetic counselors are also available for other family members who want to discuss their risks.
You are in control.
You are in control. You can decide whether you want to share your results and with whom.
Practice what you want to say
Practice what you want to say. Write down a list of things you want to cover. You don’t need to have all the answers, and you don’t need to explain everything in one sitting.
Find the right time
Find the right time. Make sure that you and the person you are telling are not distracted or in the middle of something. A quiet space with undivided attention is best.
Consider writing a letter or email
Consider writing a letter or email, if having a conversation may be too difficult. Genetic counselors can also write letters that explain the testing, the results, and their meaning that you can share with your family.

Where can I learn more?

For more in-depth information on ALS and Genetics, check out these resource guides from the International Alliance of ALS/MND Associations:

Introduction to Genetics: What is genetic variation?
Introduction to Genetics: What is your genome?
ALS/MND Genetics: Why is it important to understand genetic cause of disease?
ALS/MND Genetics: Can genes affect the type of ALS/MND?
ALS/MND Genetics: What can we do about genetic ALS/MND?

The Les Turner ALS Foundation exists to guide you to answers, support you and your loved ones, and advance scientific research. Explore our ALS information guides and educational resources, and reach out to our ALS Support Services Team to learn more about how we can help.

My ALS Decision Tool™
ALS Learning Series
Support Groups

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