"ALS runs in my family. Will I die of it?"
About 10% of ALS is genetic, but not everyone who has an ALS-causing gene actually gets ALS.
Even if you have the mutation that one of your parents has (which is only a 50/50 likelihood in itself), the probability of your inheriting it depends on your family history and varies from 30% to over 70%.
But what if you do get a genetic form? Good news — prospects of prevention/treatment are good. Some ALS specialists estimate substantial ability to prevent or cure C9orf72 and other "repeat expansion mutations" within one or two decades.
Even today, in 2024, there is treatment (Qalsody/tofersen) in confirmatory trials for the SOD1 mutation (and it's 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.
In the future, we should 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.
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.
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.
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, but not everyone who has an ALS-causing gene actually gets ALS.
Even if you have the mutation that one of your parents has (which is only a 50/50 likelihood in itself), the probability of your inheriting it depends on your family history and varies from 30% to over 70%.
But what if you do get a genetic form? Good news — prospects of prevention/treatment are good. Some ALS specialists estimate substantial ability to prevent or cure C9orf72 and other "repeat expansion mutations" within one or two decades.
Even today, in 2024, there is treatment (Qalsody/tofersen) in confirmatory trials for the SOD1 mutation (and it's 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.
In the future, we should 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?
For those who do have a family history, genetic testing is not only clarifying for them, but helpful to 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.
"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 might also 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 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.
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.