Genetic Testing for ALS

Genetics and ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, can be either sporadic or inherited. The majority of ALS cases (about 90-95%) are considered sporadic, meaning they occur randomly and without a clearly defined cause. Sporadic ALS typically occurs in individuals with no family history of the disease.

However, approximately 5-10% of ALS cases are considered familial, meaning there is a family history of the disease. In familial ALS, there is a genetic component involved, and specific mutations in certain genes have been associated with an increased risk of developing the disease. The most common gene associated with familial ALS is the C9orf72 gene, but mutations in other genes can also contribute to familial cases, and continue to be discovered.

It's important to note that having a family history of ALS does not necessarily mean that an individual will develop the disease, and the inheritance pattern can vary. In some cases, ALS may follow an autosomal dominant pattern, where a mutation in one copy of a specific gene is sufficient to cause the disease. In other cases, it may follow an autosomal recessive pattern, where mutations in both copies of a gene are necessary for the condition to manifest.

If you have concerns about the hereditary aspects of ALS or if there is a family history of the disease, it's advisable to consult with a genetic counselor, neurologist, or other healthcare professional to discuss options and considerations.

Genetic Testing

Deciding whether to undergo genetic testing for ALS is a personal decision and should be made after careful consideration.

Consider how much having a family history of ALS increases your risk. Not everyone with a family history of ALS will develop the condition, and the actual risk can vary depending on the specific genetic factors involved.

Genetic Counseling: Consult with a genetic counselor who specializes in neurogenetics. They can provide information about the genetic factors associated with ALS, explain the implications of test results, and help you understand the potential impact on your health and family.

Psychological and Emotional Preparedness: Genetic testing results, whether positive or negative, can have significant emotional and psychological implications. Consider whether you are emotionally prepared to handle the results and how they might affect your outlook on life and future planning.

Insurance/Employment Considerations: While the Genetic Information Nondiscrimination Act of 2008 (GINA) protects against genetic discrimination in health insurance and in the workplace, it does not provide the same level of protection for disability, life, or long-term care insurance. It is important to consider how insurance companies may deny coverage or set high premiums based on genetic information, and whether to consider purchasing such plans prior to genetic testing.

Before making a decision, it is crucial to have a thorough discussion with a healthcare professional, ideally a genetic counselor or a neurologist with expertise in ALS. They can provide detailed information about the benefits, risks, and limitations of genetic testing and help you make an informed decision based on your individual circumstances.

Learn More

Research | ALS Northwest

Genetic and Rare Diseases Information Center | National Institute of Health

No Charge Genetic testing for People living with ALS and their Families | Inside ALS

Genetic Information Nondiscrimination Act (GINA) | US Department of Labor

National ALS Registry | CDC

Clinical Trials | National Library of Medicine

Pre-fALS (Pre-Symptomatic Familial ALS Study) | ALS Research Collaboration: University of Miami

ALS Northwest Care Services