Genetics, MND and What It Means for Families

By Romany Sutherland, daughter of an MND patient

At the South African MND/ALS Symposium in 2024, we were privileged to hear from Laynie Dratch, ScM CGC, a licensed certified genetic counsellor at the Penn FTD Centre and Penn Comprehensive ALS Centre in the United States. Her presentation, Best Practices for Genetics Care in ALS/MND, shed light on the fast-evolving field of genetics in motor neuron disease and related conditions

What we know about genetics in MND

  • MND is most often not caused by a single genetic variant. Instead, it can be the result of a combination of genetics, environment, and other risk factors.
  • Around 10% of people with ALS/MND have a family history of the disease, and in about three-quarters of those cases, a genetic cause can now be identified.
  • Even among those with ALS without known family history, more than 10% have a genetic variant linked to the disease.
  • MND is part of a spectrum that overlaps with frontotemporal dementia (FTD), and Parkinson’s disease, which explains why different family members may present with different but related conditions.
  • Importantly, genetic counselling is not the same as genetic testing. Counselling provides education, emotional support, and guidance, and is available whether someone chooses to undergo testing or not.

Why genetic testing is offered

Genetic testing in MND can help patients and families:

  • Understand whether there is an identifiable cause.
  • Access potential new treatments or clinical trials (e.g., for certain gene-specific therapies).
  • Understand more about what to expect for the future (e.g. what do people with this genetic form tend to experience in terms of progression, types of symptoms, etc.)
  • Clarify risks for family members.
  • Inform family planning, financial, and life decisions.

At the same time, Laynie emphasized that testing is a personal choice. It does not provide all the answers, and results can sometimes raise more questions. Predictive testing for healthy family members is only done after thorough counselling, and always in adulthood.

A personal reflection

As the daughter of a mother who passed away from MND, with a maternal grandmother who had FTD and a maternal uncle now diagnosed with Alzheimer’s, Parkinson’s, and Lewy body dementia, I cannot ignore the question of whether there is a genetic thread running through my family. It is frightening to think I might carry a predisposition.

Recently, my husband asked me: “If you did a genetic test and it showed you had a predisposition, what would you do differently?” My answer was: I guess I would make sure to manage my stress, avoid toxins where possible, stay physically active, eat healthily, and breathe the cleanest air I can.

His reply stopped me in my tracks: “But shouldn’t you be doing that anyway?”

He was right. The truth is, I believe, whether or not we carry a genetic risk, the best thing we can do is live as healthily and fully as possible.

Moving forward with knowledge and compassion

Genetics can feel overwhelming, and for many families it may raise difficult questions. But the message from Laynie Dratch’s talk was hopeful: knowledge empowers choice. Testing is available, but so too are counselling, resources, and supportive communities.

For families touched by MND, the journey is already hard enough. Conversations about genetics should never add to trauma, but rather open doors to support, preparedness, and resilience.

Resources shared by Laynie Dratch