New research strengthens calls for more specialist Huntington’s services

Scottish Huntington’s Association has joined Scotland’s longest serving HD Clinical Lead in renewing the call for expanding specialist Huntington’s services, following news that Scotland has some of the highest rates of the disease in the world.

The number of people who have the gene that causes Huntington’s disease in the north of the country has been more accurately counted by researchers from the University of Aberdeen.

Analysis of NHS family-based records indicated that there are more than 160 adults living in the north of Scotland who have the gene that causes Huntington’s disease but have not been tested. However, researchers behind the project believe the figure will be even higher as not all people with Huntington’s disease symptoms seek diagnosis.

Scottish Huntington’s Association is clear that this is not a call for more people to seek a predictive test to establish if they have the faulty gene that causes Huntington’s disease. This is a complex personal decision which requires significant counselling and consideration. 

The study, published in Neuroepidemiology, confirmed that Northern Scotland has one of the highest rates of Huntington’s disease in the world at 14.5 per 100,000 people, more than five times the estimated worldwide rate of 2.71 per 100,000 people.

Chief Executive Officer of Scottish Huntington’s Association, Alistair Haw, said:

“Specialist services are not some nice to have optional extra but an absolute necessity to prevent patients reaching crisis point and presenting to acute emergency statutory services. Specialist Huntington’s services need to be expanded urgently – a message further reinforced by this new and clear evidence which has major implications for health and social care providers throughout Scotland and beyond.

“Despite this we see evidence of a small minority of Health and Social Care Partnerships hatching plans to pull the plug on specialist support. With a study in the Journal of Huntington’s Disease showing that Huntington’s Disease Specialists reduce hospital admissions by over 50%, it’s difficult to think of a more glaring false economy. The evidence could not be clearer that specialist support needs to be expanded, not abolished. Along with our cross party political supporters we will continue to fight tirelessly to ensure that everyone impacted by Huntington’s disease has access to the specialist care and support they need, when they need it.”

The new analysis showed that, on average, every person who has been diagnosed with Huntington’s disease will have at least another 2.2 relatives who have the gene.

The research was led by University of Aberdeen’s Professor Zosia Miedzybrodzka who is also Clinical Lead for Huntington’s Disease in North of Scotland (covering Grampian, Highland, Orkney, Shetland, and the Western Isles), based in NHS Grampian, alongside Heather Cruickshank, Genetic Counsellor in NHS Grampian.

Professor Miedzybrodzka said: “Previous work looked at how many people in the area have been tested for Huntington’s disease, that is people diagnosed with Huntington’s disease signs and those with a gene alteration that will develop the condition in later life. However, no one has properly counted just how many people who haven’t been tested yet must have the gene.

“It is crucial that we know this number so that health boards can properly plan now for care, and for treatments when they become available in the future.”