ALS & Genetics
Genetic testing for people living with ALS
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?
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 firstname.lastname@example.org.
How does genetic testing work?
Here’s how the genetic testing process works:
How much does genetic testing cost?
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.
What are the results of genetic testing?
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.
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.
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.
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