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A disappointing consultation on the UK plan for rare diseases
I’ve just been reading through the consultation document for the UK plan on rare diseases. Despite being well written, it’s rather disappointing.
The UK hasn’t yet had a plan or a strategy for rare diseases, unlike countries such as France, which is now on its second national plan for rare diseases. So it was with trepidation that we awaited the announcement of the UK consultation, on Rare Disease Day.
No specific funding for rare diseases
The first disappointment was that I couldn’t find anywhere a commitment to specific funding for rare diseases. While the second French national plan allocates €180 million towards rare diseases, there’s no mention in the UK consultation document of any UK budget for rare diseases.
Business as usual
The second disappointment was that the consultation document reads like ‘business as usual’, with few new initiatives proposed.
Read the executive summary. It’s mainly a summary of existing measures or statements. Here are a few quotes from the document:
- ‘There are already national screening programmes for several rare diseases.’
- ‘The UK participates in the Orphanet website, which is quality assured and one of the most comprehensive websites on rare disease in the world. The NHS also provides information on a variety of websites such as NHS Inform, NHS Evidence and NHS Choices.’
- ‘In the United Kingdom there is a wide range of patient organisations which offer help and support to people with rare disease.’
What about recommending a host of new initiatives to build on this? For instance, Rare Disease UK proposed a long list of possible initiatives in its ‘Vision for the UK Rare Disease Strategy‘.
Not much on research
The third disappointment was the research section, which is one of the shortest sections of the document, yet the area most in need of investment in the UK.
It starts by saying that ‘the UK is at the cutting edge of research into rare diseases’. This may be the case, but it’s definitely not because of any concerted government funding.
That’s why the following sentence is so grating: ‘Research is carried out by universities, the NHS, and other organisations. It is funded by Government.’
As anyone in the UK working in rare disease research knows, there is no funding available from the government specifically for rare diseases. Having spoken to several government funding agencies, I can tell you that rare diseases are at the bottom of their priority list. They made it clear to me that rare diseases cannot compete successfully for funding against common diseases such as cancer or heart disease.
That’s been confirmed by our experience at the AKU Society and by other patient and academic groups. Our funding for research has come from private sources.
This is completely different for the clinical side, where the UK is well set up for the care of ultra rare conditions through its National Specialised Services, which has a pot of money specifically ring-fenced for these. Why can’t the UK government do the same for rare disease research?
There’s also little proposed in the consultation document for patient registries, despite the fact that it’s increasingly clear that a centralised registry for rare diseases would make a significant difference. Nor is there much about the need to carry out major public awareness campaigns to help the public understand rare diseases in more depth. The document mentions research that shows that ‘almost all United Kingdom respondents (93 percent) agreed that people are unaware of the real problems faced by those suffering from a rare disease’ – yet it does not present any strategy for remedying this.
A robust UK plan for rare diseases would include at the very least the following three action points:
You can download the consultation on the UK national plan for rare diseases here.
The UK hasn’t yet had a plan or a strategy for rare diseases, unlike countries such as France, which is now on its second national plan for rare diseases. So it was with trepidation that we awaited the announcement of the UK consultation, on Rare Disease Day.
No specific funding for rare diseases
The first disappointment was that I couldn’t find anywhere a commitment to specific funding for rare diseases. While the second French national plan allocates €180 million towards rare diseases, there’s no mention in the UK consultation document of any UK budget for rare diseases.
Business as usual
The second disappointment was that the consultation document reads like ‘business as usual’, with few new initiatives proposed.
Read the executive summary. It’s mainly a summary of existing measures or statements. Here are a few quotes from the document:
- ‘There are already national screening programmes for several rare diseases.’
- ‘The UK participates in the Orphanet website, which is quality assured and one of the most comprehensive websites on rare disease in the world. The NHS also provides information on a variety of websites such as NHS Inform, NHS Evidence and NHS Choices.’
- ‘In the United Kingdom there is a wide range of patient organisations which offer help and support to people with rare disease.’
What about recommending a host of new initiatives to build on this? For instance, Rare Disease UK proposed a long list of possible initiatives in its ‘Vision for the UK Rare Disease Strategy‘.
Not much on research
The third disappointment was the research section, which is one of the shortest sections of the document, yet the area most in need of investment in the UK.
It starts by saying that ‘the UK is at the cutting edge of research into rare diseases’. This may be the case, but it’s definitely not because of any concerted government funding.
That’s why the following sentence is so grating: ‘Research is carried out by universities, the NHS, and other organisations. It is funded by Government.’
As anyone in the UK working in rare disease research knows, there is no funding available from the government specifically for rare diseases. Having spoken to several government funding agencies, I can tell you that rare diseases are at the bottom of their priority list. They made it clear to me that rare diseases cannot compete successfully for funding against common diseases such as cancer or heart disease.
That’s been confirmed by our experience at the AKU Society and by other patient and academic groups. Our funding for research has come from private sources.
This is completely different for the clinical side, where the UK is well set up for the care of ultra rare conditions through its National Specialised Services, which has a pot of money specifically ring-fenced for these. Why can’t the UK government do the same for rare disease research?
There’s also little proposed in the consultation document for patient registries, despite the fact that it’s increasingly clear that a centralised registry for rare diseases would make a significant difference. Nor is there much about the need to carry out major public awareness campaigns to help the public understand rare diseases in more depth. The document mentions research that shows that ‘almost all United Kingdom respondents (93 percent) agreed that people are unaware of the real problems faced by those suffering from a rare disease’ – yet it does not present any strategy for remedying this.
A robust UK plan for rare diseases would include at the very least the following three action points:
- A long-term budgetary commitment to rare diseases, particularly a ring-fenced pot of money for rare disease research. This would kick-start research in the UK and prove that the government really does support this sector.
- A centralised registry for rare diseases. This would make a big difference for natural history and long term observational studies.
- A major, government-backed public campaign for rare diseases on the same scale as the awareness campaigns for cancer or heart disease. The UK public has very little understanding of the scale of the rare disease problem and how it affects patients. This needs to change.
You can download the consultation on the UK national plan for rare diseases here.
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