Genetic Testing Could Be Appropriate For All Motor Neuron Disease Patients, Regardless of Family History

Genetic Testing Could Be Appropriate for All Motor Neuron Disease Patients

Recent research from the Sheffield Institute for Translational Neuroscience suggests that routine genetic testing may be appropriate for all Motor Neuron Disease (MND) patients and could potentially impact clinical care and sub-classification of disease. The study published February, 15th 2021 in the journal of Neurology, Neurosurgery, and Psychiatry (JNNP) performed targeted genetic testing and sequencing of MND genes on 100 patients.

While the majority of MND cases are considered to be sporadic, 5-10% have been shown to hereditary. Doctors and researchers found higher than expected genetic changes in the group of patients. The study recommends genetic testing could be needed for all MND patients regardless of family history. With the development of new therapies targeting specific genetic forms of MN, doctors and researchers are now recommending that all MND patients are offered a genetic screening.

Janine Kirby, Professor of Neurogenetics at the University of Sheffield, commented “Our study found that 42% of patients involved in the screening showed variants in known MND-linked genes. This doesn’t mean that 42 percent of MND cases are familial—but shows that some familial and sporadic cases can share the same genetic cause of disease.” She went on to say, “We found that 21%  of patients had a clinically reportable genetic alteration that has been proven to increase the likelihood of developing MND. Of these, 93% had no family history of MND and 15% met the inclusion criteria for a current MND gene therapy clinical trial.”

“As future studies expand the number of verified genetic causes of MND, we will continue to see if they are also found in cases without a family history .”

Professor Dame Pamela Shaw, Director of SITraN and the NIHR Sheffield Biomedical Research Centre said “Our study suggests that all patients with MND should, with careful counseling, be offered genetic testing.” “We hope that by screening all MND patients for gene mutations that are a known factor in MND, we can further our knowledge on sub-classification of the disease, but also ensure that patients have access to clinical trials that are relevant for them personally. “This is increasingly important in light of the new personalized medicine treatments in development for MND that target a specific gene mutation to ensure that patients have access to potential treatments that could be beneficial to them.”

Currently, there is no cure for MND and no effective treatments to halt or reverse the progression of this devastating disease.

About motor neuron disease (MND):

  • MND is a fatal, rapidly progressing disease that affects the brain and spinal cord
  • It attacks the nerves that control movement so muscles no longer work. MND does not usually affect the senses such as sight, sound, feeling etc.
  • It can leave people locked in a failing body, unable to move, talk and eventually breathe.
  • Over 80% of people with MND will have communication difficulties, including for some, a complete loss of voice.
  • It affects people from all communities.
  • Around 35% of people with MND experience mild cognitive change, in other words, changes in thinking and behavior. A further 15% of people show signs of frontotemporal dementia which results in more pronounced behavioral change.
  • It kills a third of people within a year and more than half within two years of diagnosis.
  • A person’s lifetime risk of developing MND is around 1 in 300.
  • It has no cure.

What does this mean for you?

Vita Medical Solutions does not currently offer access to neurological genetic testing. However, these advances reinforce the ever growing need for genetic testing as a whole. Our Vision: To provide all individuals with genetic testing options (Test.), facilitate understanding of personal genetics (Know.), accelerate learning and interpretation of personal genetics (Educate.), create actionable implementation of genetic knowledge (Advocate.).

Our ultimate goal or Mission is to make personalized medicine accessible for every person and their family, and we plan to accomplish this goal through our vision, Test.Know.Educate.Advocate.

Ready to join us on our Mission? Learn more about your personal and family genetic makeup and personalized medicine options through our genetic test offerings. These include:

Hereditary Cancer Screening (CGx)
Hereditary Cardiac Screening (CARx)
Diabetes-Obesity Screening
Pharmacogenomics (PGx)
More Coming Soon!

Even better news, with qualifying insurance, this test can cost you nothing out of pocket. Click here to schedule a call with one of Vita Medical’s Patient Services Consultants to find out your eligibility.

Call us 1.800.590.9292 (toll free) or email at [email protected]

Test. Know. Educate. Advocate.

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