Calls for access to better genetic testing to fight Motor Neurone Disease

Better access to genetic testing could prevent some New Zealand families the heartache and grief of motor neurone disease, MND, according to an expert who has devoted her professional career to MND research.

Associate Professor Emma Scotter MNZM from the Centre for Brain Research at the University of Auckland told Clare de Lore on Newstalk ZB’s Brainstorming podcast of the challenges and in one case, joy, in researching what is widely regarded as the cruellest of neurodegenerative diseases.

In New Zealand, there are 400 people living with MND.   The disease  progresses quickly, effectively paralysing people, “locked in”, literally unable to lift a finger, and often without speech.  It’s life-ending with many surviving less than 3 years after diagnosis, some as little as six months.

Dr Natalie Gauld ONZM is an award- winning pharmacist and academic. She was diagnosed with the most common form of MND called ALS in 2022 so is already an outlier, having lived twice as long as the average.

In Brainstorming, the two women discuss a range of issues including the genetic link to about 10% of MND cases, the need for greater testing and more uptake of a drug that isn’t a cure but can give precious extra months to someone with the ALS variant of MND.

Dr Gauld describes the impact of being told she has MND..

“It was a grieving process, the first month was horrendous and I just thought “well, I am not going to spend the time I have before I am in a wheelchair and more limited sitting around feeling sorry for myself” so I have been trying to do as much as I can to have as much fun as I can and to achieve as much as I can.  Trying to live the best life I can while I can.”

Dr Gauld, who is sometimes in a wheelchair, lives the MND New Zealand theme Make Time Count, ticking off a list of personal aims and also devoting her expertise to MND NZ including a major survey last year of people with MND.

“We asked people what their advice was for others and one of the things that came through strongly was to make time count, go out and do what you can, while you can.  Another was to think about what you can do, not what you can’t do and another was to be pro-active because for many people this disease moves so quickly.  I feel like I am changing every week, people must be feeling like they are changing every day with what they can do and can’t do.   You have to be proactive around getting the equipment you need in time, getting house modifications done if you need them, getting the management you need - physio, occupational therapist whatever it is.”

Dr Scotter’s lab at the Centre for Brain Research is deeply involved in research into genes and their role in MND.   She says some of the existing dogma is changing as research continues and one immediate issue is the accessibility of genetic testing.   It’s a matter of funding, not a lack of will, that means some people are not immediately able to get tested.

“We are....trying to find new genes and we want to do that on the foundation of people having testing for the known genes.   That is the minimum to expect.”

So far, the lab, over five years, has tested 200 people and for most Dr Scotter says she’s been able to rule out likely genetic causes of MND.  That means for those people’s children, there is not going to be any more risk than there is for anyone else in the population for developing the disease.   But for some, Dr Scotter says there was a genetic cause.

“Most of those people had a family history, and that means that other people in the family can be tested for that gene.   And probably the most surprising group were those with no family history.  We expected to find no gene, but we did find the gene.  That really changes things for that family.  It means we can ensure the family gets some wraparound support that genetic testing is offered through the clinic for those who might be at risk in future.”

There is a breakthrough gene therapy, a drug called Tofersen, that can help a tiny minority of MND patients who carry a particular gene called SOD1.  In New Zealand, that’s about 8 people.  Another drug Riluzole can extend the lives of those with ALS by, on average, about 7 months, and up to 19 months.   Currently available in tablet form only, both Dr Scotter and Dr Gauld are hopeful more people with MND will become aware the drug can help them and they also hope a liquid form will be approved and funded to make its use easier for patients who can’t swallow.

These developments, no matter how small, offer some hope to people with MND.   It’s been a bleak landscape for many years and now, due to the advancement of science, Dr Scotter explains the joy that’s come from using science to help reassure people about future generations.

“There is something called pre-implantation genetic testing which enables embryos to be tested genetically to see if they carry the MND-causing gene.  If  they do, a different embryo will be selected and implanted.  We know that our work has contributed to at least one baby being born free of an MND causing gene and that is the highlight of my career so far, it’s absolutely thrilling that we have prevented disease in one family. “