Our thoughts on the UK Rare Diseases Framework

We welcome the publication of the UK Rare Diseases Framework and look forward to working with the four nations of the UK to help to deliver its aims. This is once again an almost unique piece of health policy in that it represents a commitment from four health ministers from across the UK to deliver a shared aim for people living with rare conditions. 

Overarching policy for people living with rare conditions is necessary now more than ever. We saw in our December 2020 publication: Rare Experience2020 that people with rare conditions are insufficiently served by the system.

Time to diagnosis, access to specialised services, coordination of care, satisfaction with the NHS, access to medicines, awareness of healthcare professionals, access to information – every topic we covered showed a wide range of experiences. There is a lot of work to be done to improve outcomes and experiences for people living with rare conditions. There are pockets of excellence on one hand, and many people struggling on the other, the positive side of this spectrum shows it is possible to deliver excellence and we hope the new Framework will provide the impetus to spread this excellence more widely.

Priority 1: Faster diagnosis

Our 2020 report findings have underlined the importance of Priority 1 of the Framework – diagnosis for people living with rare conditions. A fast diagnosis can mean quick access to specialised care and avoids the diagnostic odyssey and potential misdiagnoses. Genome UK is clearly going to be a big part of progress here, but it is also excellent to see that the Framework acknowledges that it ‘is also critical to support patients with non-genetic rare diseases, and the healthcare professionals treating them, to reach a diagnosis as soon as possible.’

Priority 2: Increased awareness of rare diseases

Rare Experience 2020 also showed that Priority 2 – awareness of rare conditions among professionals is valuable and needs improving. No one can be aware of all rare conditions individually, but ignorance of rare conditions generally among healthcare professionals leads to slower referral, slower diagnosis, misdiagnoses and slower access to appropriate specialised care. It is pleasing to see commitment to additional education and training, and again the acknowledgement that clinician’s awareness of non-genetic rare conditions is important.

Priority 3: Better coordination of care

Genetic Alliance UK has always seen care coordination  – Priority 3 – as a key part of high-quality care for people living with rare conditions. We are participants in the COordinated Care Of Rare Diseases (CONCORD) study, and we hope the Framework will drive the implementation of the study’s findings. Our 2020 report found that most people with rare conditions have to coordinate their own care, but those that have experienced professional care coordination prefer it. We saw the complexity of so many peoples healthcare, and how many of our respondents are unable to work or learn because of their condition. 

Priority 4: Improved access to specialist care, treatments and drugs

Priority 4 – improving access to specialist care, treatments and drugs – covers some of the work Genetic Alliance UK has done around access to medicines in Action for Access, and it is important that work to improve access to treatment sits within the wider Framework for people living with rare conditions. People access therapies as part of a pathway, and the whole pathway needs to be excellent for the therapy to deliver its value. It is fair to say that this access environment is jeopardised by the UK’s exit from the EU, and so it is good to see acknowledgement of the importance of global collaboration in the development and delivery of treatments in the field of rare conditions.

Next steps

It is time now to put the Framework into action. As the document shows, Phase 2 will be for the four nations of the UK to deliver Action Plans to deliver these commitments. We can expect these action plans to be ready – ‘where possible’ – by the end of 2021. We acknowledge the unprecedented pressures that the NHS is under across the UK, but we hope all four health departments and NHSs recognise the value that these Action Plans will bring to ensure that people living with rare conditions have the best possible care, even – and perhaps especially – when the NHS is under such pressure. While these plans are unpublished – there is a gap in policy delivery for people living with rare conditions.

We are ready to help ensure expert patient voice is a part of the development of Action Plans for the four nations, and will be publishing a report providing a detailed perspective on the contents of the Action Plans on Rare Disease Day 2021. If any members of our community would like to contribute to this, please get in touch at [email protected].

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