Rare Disease Scotland: progress report

Foreword

The past two years have seen significant changes in the world of rare disease, especially the rapid advancement of genomics. Genomic medicine has the potential to revolutionise healthcare, especially in terms of diagnosis timescales and treatments for people with rare diseases. I am pleased that Scotland is participating in this exciting discipline, and look forward to seeing how this will develop over the next few years.

While genomics will change healthcare in the future, it is important that government and the National Health Service do not lose sight of the person at the centre of the care we provide. It is therefore very encouraging to see legislation, policies and frameworks that aim to improve health and social care now being drafted through listening to stakeholders, and most importantly people who access these services, to put the person at the very centre of their own healthcare. I am pleased to include my own Chief Medical Officer’s report, ‘Realising Realistic Medicine’ in this.

I am also pleased at the progress that has been made against the 51 commitments set out in the UK Strategy for Rare Disease. Of course there is still a lot of work ahead, and challenges to face. I would encourage you to give any feedback you can, to ensure that placing the person at the centre continues to be at the heart of these commitments.

Dr Catherine Calderwood MA Cantab FRCOG MBChB FRCP,
Chief Medical Officer for Scotland

The design and quality of services for people is key to the future of the NHS. While a large number of people have a rare disease, as many as 1 in 17 people in Scotland, we continue to hear of difficulties from people who have experienced long journeys to receiving timely diagnosis, and not always receiving joined up specialist and social care that they need.

This report shows that a lot of good work is being done to improve the road to a faster diagnosis through the introduction of genomics and the policies and frameworks that seek to put the person at the centre of their own care. However, much more is needed to raise awareness of rare diseases and to promote a more integrated approach to services, which cuts across all disciplines and departments and to embed seamless care and support.

In the report, we seek to capture the progress made against the main themes of the UK Strategy for Rare Diseases which we believe will help to address some of these issues and deliver the highest quality services. However, there is still plenty of work to do before we reach the targets of 2020 and beyond.

Tracey Gillies, Chair, Rare Disease Implementation Oversight Group