"ALS runs in my family. Will I die of it?"
About 10% of ALS is genetic. If two successive generations of family members have or have had ALS, it is probably a genetic form. That holds even if one generation's onset is limb, for example, and the next is bulbar.
A positive test is not a death sentence. Treatments are advancing and not everyone who inherits an ALS-causing gene actually gets ALS.
Even if a genetic form of ALS is present in your family, you have two parents, so it's only 50/50 that you even inherit the gene.
And even if you inherit that mutation, it doesn't mean that you will get ALS. If you carry a gene that causes ALS in your family, the probability that you individually will get it is probably somewhere in the 30%-70% range, depending on your family history.
But what if you do get a genetic form? Good news — prospects of prevention/treatment are amping up. Some ALS specialists estimate substantial ability to prevent or cure C9orf72 and other "repeat expansion mutations" within one or two decades.
And even if they find out they are at risk, your relatives can make more informed choices, such as getting tested themselves, and if they themselves are positive, making plans for the future such as considering IVF to have unaffected children. They can also enroll in prevention and treatment studies.
For example, if your first-degree relative (parent, brother, sister, child) had or has ALS, you might explore the Prevent ALS arm of the ALL ALS study, that provides free optional genetic counseling and results.
Still, 30% of definite "FALS" (familial ALS) cases have no identified mutation yet. So even if no genetic risk is found, your family can have a genetic form of ALS that hasn't been identified yet. So in that case, the more of you that are tested, the more likely an overlapping gene can be found, which will help future family members and potentially others worldwide.
Another option is to leave instructions that you want your DNA tested after death. So long as this request is known by your family in advance, it can usually be honored. However, samples taken while you are still alive are most useful.
My insurance won't pay for testing, though — no symptoms
If you can't get genetic testing through a research study, commercial testing may be available for self-pay. Often, the least expensive option is to get a swab kit mailed to you and send it back. Check labs on line. The fewer mutations you ask to be checked, the less expensive, so if you already know the family mutation, you can test just for that.
However, before you undergo genetic testing whether at your own expense or via insurance, it is still something you should consider from the emotional and financial standpoint, because there is no rewind button. Most major cities have genetic counselors, or if you are in a clinic program or research study, they will often provide one.
Long-term care and disability insurers are not prohibited from using genetic information in coverage and premium decisions, either.
The Health Insurance Portability and Accountability Act (HIPAA) limits the disclosure of health information without a patient’s consent. However, significant health information, including laboratory and genetic test results, is available through patient portals for which more than one person may have online credentials. Not to mention, if you post about your situation or your family history on any social media, that information can be easily obtained.
So the reality is, you should presume that your genetic information can become known once it is "in the system," and buy any LTC or disability insurance for which you are eligible before undertaking genetic testing or seeking any care related to a possible genetic disorder, if possible. However, if underwriting forms ask about health symptoms and you do not answer fully and honestly, your coverage can be revoked at any time.
About 10% of ALS is genetic. If two successive generations of family members have or have had ALS, it is probably a genetic form. That holds even if one generation's onset is limb, for example, and the next is bulbar.
A positive test is not a death sentence. Treatments are advancing and not everyone who inherits an ALS-causing gene actually gets ALS.
Even if a genetic form of ALS is present in your family, you have two parents, so it's only 50/50 that you even inherit the gene.
And even if you inherit that mutation, it doesn't mean that you will get ALS. If you carry a gene that causes ALS in your family, the probability that you individually will get it is probably somewhere in the 30%-70% range, depending on your family history.
But what if you do get a genetic form? Good news — prospects of prevention/treatment are amping up. Some ALS specialists estimate substantial ability to prevent or cure C9orf72 and other "repeat expansion mutations" within one or two decades.
Even today, in 2025, there is treatment (Qalsody/tofersen) in confirmatory trials for the SOD1 mutation (and on the market pending final results). Your odds of having that with no history are 1-2%. Also, ulefnersen is in late-stage trials for the FUS mutation and Biogen has a compound (BIIB105) in early trials for those carrying the ATXN2 gene.
Even better, we may be able to prevent familial disease one day. The hope is that we'll be able to use CRISPR technology that can change DNA within a cell. This holds great promise for preventing the development of FALS in those who carry a gene that puts them at risk, and likely for some other PALS as well.
I have a family history. Should I test? If so, how?
If you do have a family history, genetic testing can help both you and other relatives, who will then know if they might be affected. Relatives of PALS are understandably worried that they might inherit an ALS gene. If a relative in their bloodline tests negative for ALS-causing genes, this gives them peace of mind.And even if they find out they are at risk, your relatives can make more informed choices, such as getting tested themselves, and if they themselves are positive, making plans for the future such as considering IVF to have unaffected children. They can also enroll in prevention and treatment studies.
For example, if your first-degree relative (parent, brother, sister, child) had or has ALS, you might explore the Prevent ALS arm of the ALL ALS study, that provides free optional genetic counseling and results.
Still, 30% of definite "FALS" (familial ALS) cases have no identified mutation yet. So even if no genetic risk is found, your family can have a genetic form of ALS that hasn't been identified yet. So in that case, the more of you that are tested, the more likely an overlapping gene can be found, which will help future family members and potentially others worldwide.
"ALS doesn't run in my family. But I have it. Should I get tested?"
Many physicians now recommend genetic testing for all new PALS, because not every person with a gene that causes ALS has a family history or is sure of it. Ask your doctor if genetic testing is not brought up.I'm not sure about testing. Can it happen after I die?
You can choose to preserve a sample of your blood/saliva if you are not ready to test right now so that it is available to relatives in the future if they want to test. By that time, more genetic markers related to ALS may be known. However, at this writing, only one commercial biobank holds samples up to a year, after which time they may be discarded. So probably working with a genetic counselor with access to academic biobanks, who can hold samples for longer and are more stable, is best.Another option is to leave instructions that you want your DNA tested after death. So long as this request is known by your family in advance, it can usually be honored. However, samples taken while you are still alive are most useful.
My insurance won't pay for testing, though — no symptoms
If you can't get genetic testing through a research study, commercial testing may be available for self-pay. Often, the least expensive option is to get a swab kit mailed to you and send it back. Check labs on line. The fewer mutations you ask to be checked, the less expensive, so if you already know the family mutation, you can test just for that.
However, before you undergo genetic testing whether at your own expense or via insurance, it is still something you should consider from the emotional and financial standpoint, because there is no rewind button. Most major cities have genetic counselors, or if you are in a clinic program or research study, they will often provide one.
How does my family history affect insurance, employment, etc.?
In the US, with similar laws in effect in many countries, the Genetic Non-Discrimination Act (GINA) prevents employers from asking for genetic information or using it in employment decisions. However, being unable to ask about it directly does not mean that casual disclosures or social media searches cannot reveal it, and whether or not it becomes a factor in decision-making, is, of course, very difficult to prove. In addition, protections only apply to firms with more than 15 employees and do not apply to the military.Long-term care and disability insurers are not prohibited from using genetic information in coverage and premium decisions, either.
The Health Insurance Portability and Accountability Act (HIPAA) limits the disclosure of health information without a patient’s consent. However, significant health information, including laboratory and genetic test results, is available through patient portals for which more than one person may have online credentials. Not to mention, if you post about your situation or your family history on any social media, that information can be easily obtained.
So the reality is, you should presume that your genetic information can become known once it is "in the system," and buy any LTC or disability insurance for which you are eligible before undertaking genetic testing or seeking any care related to a possible genetic disorder, if possible. However, if underwriting forms ask about health symptoms and you do not answer fully and honestly, your coverage can be revoked at any time.