Rare disease community: letter from Minister for Public Health and Sport

Open letter to rare disease community from Mairi Gougeon MSP, Minister for Public Health and Sport on 24 February 2021.

Dear Rare Disease Community,

I would like to take this opportunity, in my new Ministerial role, to update you on Scotland’s position with regards to rare disease policy, particularly as we approach the fourteenth annual international Rare Disease Day on 28 February 2021, a very important awareness raising event in the rare disease community calendar.

Firstly, I want to reassure you that the Scottish Government remains fully committed to making sure that the lives of people living with a rare disease continues to improve by ensuring access to the best possible patient centred care and support, so that patients can benefit from safe and effective healthcare in Scotland.

As part of that commitment, I am today delighted to announce, following the conclusion of the UK Strategy for Rare Diseases in December 2020, that we have published our Final Progress Report, which assesses our implementation and progress against the original 51 commitments in the UK Strategy. 

We’ve seen great advances in the diagnoses, treatment and care of rare disease patients since the adoption of the UK Strategy for Rare Diseases in 2013, but we know we must continue this momentum, ensuring we put the person at the centre of everything we do. I hope you will see that excellent progress has been made in all areas and it is important that we take some time to recognise and reflect on our success.

I would like to highlight some of the key achievements delivered as a direct result of the rare disease implementation plan, which will I hope inspire you to delve a bit deeper into the report for more information:

The Congenital Anomalies Register (CARDRISS)

In recognising a gap in Scotland’s population health data, work is now well underway to establish a national congenital anomalies register for Scotland. 

CARDRISS once fully established, will register babies affected by a major structural or chromosomal anomaly or recognised syndrome.

While the Congenital Anomalies Register is still being developed, we have already seen a great benefit just by linking historical datasets to provide, for the first time in Scotland, a record of congenital anomalies. The dataset and the register are beginning to help inform the planning of services for individuals and families affected by congenital anomalies and rare diseases. Even more so once the Register is live, it will also allow NHS Scotland to support the prevention of anomalies where possible, understand the impact of antenatal screening and support research into these conditions.

The Bridge to a Scottish Strategy for Genomics

We have also made great progress in delivering genomics medicine in Scotland, particularly through the implementation of "The Bridge to a Scottish Strategy for Genomics".

The allocation of £4.2 million over a 2-year period by the Scottish Government supported the transition of genomic testing for inherited rare disease from the research setting into regular genetic testing services provided by the NHS in Scotland.  As a result of this investment, more families have been able to get the right genetic test and receive an often long awaited diagnoses as a result, enabling them to get the support and treatment they need.

Scottish physicians and scientists have made world-leading contributions to research on rare disease genetics and genomics; and a well-established network of clinicians and clinical scientists have been delivering evidence-based genetic testing for NHS Scotland patients for over thirty years. Continuing advancements in genomics medicine improves a range of factors for rare disease patients included diagnosis, access to treatment and co-ordination of care.

The Rare Disease Forum

We know that patient empowerment is crucial to improving healthcare for rare diseases and one of the ways that we have engaged with patients is through the UK Rare Disease Forum.

The Forum is made up of a wide range of rare disease stakeholders including patients themselves, third sector organisations and clinicians highlights the need for ongoing collaboration between patients and policy makers in order to ensure policies truly reflect the need of rare disease patients. In November 2019, Scotland were proud to host the Forum event and welcomed delegates from across the UK nations.  

The Forum heard presentations from a range of healthcare professionals, patient organisations and those affected by rare disease. The outcomes and evidence gathered through the event will feed into the development of a new Action Plan for Scotland.  

In the final year of implementing the strategy, we have been faced with one of the biggest challenges experienced in a generation – COVID-19. The virus affected all of us and it would be remiss of me not to acknowledge the affects this pandemic has had on the rare disease community. Throughout our public response to COVID-19, we’ve heard from many rare disease patients about the concerns and challenges they have faced. Many rare disease patients will have been advised to follow shielding measures and we know the impact this can have on an individual’s mental health and wellbeing. We have learned a lot from COVID-19 and we will continue to listen and learn from the rare disease community so those lessons inform our next steps.  

We know through engagement with you, that the rare disease community see the most value in working together, expanding the pool of experience with rare disease and ensuring the patient voice is representative across the full breadth of the community. To demonstrate our ongoing commitment to the rare diseases community Scottish Ministers have been pleased to collaborate with UK counterparts to implement The UK Rare Diseases Framework

The publication of this framework on 9 January 2021, will see nation-specific action plans being developed to take forward the framework priorities and underpinning themes: to help patients get a final diagnosis faster; increase awareness of rare diseases among healthcare professionals; better coordination of care; and improving access to specialist care, treatment and drugs.

We will work closely with the rare disease community in Scotland to ensure their needs are appropriately reflected across wider government policy too, including mental health and social care and ensure that all of these commitments are actionable and measurable.   

I would encourage you to take the opportunity to add your voice to that process when we launch our stakeholder engagement plans later in spring 2021. The Rare Disease Policy Team will be arranging a series of virtual patient engagement workshops over the summer, some of which will be arranged in collaboration with Genetic Alliance UK and officials hope to share more details with you soon, including arrangements for a new rare disease implementation board. We will also set up a rare disease patient advisory group so that those with lived experience can share their stories and we can learn how to develop better policies by taking account of what matters to you.

To conclude, I welcome the progress made in Scotland against the 51 commitments set out in the UK Strategy for Rare Disease. Where more progress is needed, rest assured that these areas will feed into our new action plan to ensure that the lives of people living with a rare disease continues to improve. I look forward to engaging with you in shaping and delivering our action plan to ensure that the rare disease community continues to be at the heart of rare disease policy in Scotland.

I hope this letter provides some reassurance of our ongoing commitment to the rare disease community and to co-producing a truly collaborative action plan to ensure that health, care and support services are person-centred and take account of what matters to you for every person affected by rare disease.                                        

Mairi Gougeon MSP

Copied to:

Matt Hancock MP, Secretary of State for Health and Social Care, Department of Health, UK Government 
Alister Jack MP, Secretary of State for Scotland 
Vaughan Gething AC/AM, Minister for Health and Social Services, Welsh Government
Robin Swann, MLA, Minister for Health, Department of Health, Northern Ireland

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