In December 2019, researchers at the Mayo Clinic published a study in the medical journal JAMA Neurology that found that nearly half of people diagnosed with motor neuron disease (MND) may be misdiagnosed because of “arbitrary” age limits and rules on genetic testing. The study looked at the cases of 400 people with MND, and found that 41% of them had a genetic cause for the disease. However, only 18% of those with a genetic cause had been diagnosed as such.
The study’s lead author, Dr. Veeraish Chickabu rah, said that many insurance companies will not cover genetic testing for people over the age of 50, even though the average age of onset for MND is 55. “What we found is that the vast majority of patients with a genetic form of MND are being diagnosed at an advanced age, when they may have already lost the ability to walk or speak,” Dr. Chickabu rah said. “This is a problem because the earlier we can diagnose MND, the better we can plan for patients’ care and treatment.”
The study’s authors say that the age limit on genetic testing is “arbitrary” and that it should be based on the individual’s symptoms, not their age. They also say that insurance companies should cover the cost of genetic testing for people with MND, as it can be very expensive.
MND is a degenerative disease that affects the motor neurons in the brain and spinal cord. It typically leads to paralysis and death within a few years of diagnosis. There is no cure for MND, but early diagnosis can help patients and their families plan for their care.
A new study has found that hundreds of people with motor neuron disease could be missing out on a diagnosis of a genetic cause, due to “arbitrary age limits and rules” on genetic testing.
The study, published in the journal JAMA Neurology, analyzed data from over 1,000 people with motor neuron disease (MND) who had undergone genetic testing. The researchers found that only around half of those who had a genetic cause for their disease were actually diagnosed with it.
The main reason for this is that many genetic testing companies have age limits on who they will test, and many insurance companies will only cover the cost of testing if the person is under a certain age. This means that many people with MND are not able to get the testing they need to find out if there is a genetic cause for their disease.
The researchers say that this is a “significant problem” that needs to be addressed, as it can lead to people with MND not getting the correct treatment or support. They suggest that the age limits on genetic testing should be removed, so that more people with MND can get the diagnosis and treatment they need.