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Progress towards implementing a UK Strategy for Rare Diseases

rare disease progress
rare disease progress

1 in 17 people will be affected by a rare disease at some point in their life; this amounts to approximately 3.5 million people in the UK.

Progress in understanding rare diseases, year on year

Rare Disease Day 2016 marks a year of significant progress. It marks progress in our understanding of many aspects of rare diseases, but also of how they affect the millions of patients and families living with the daily consequences of these conditions, which are serious, chronic, life limiting and often poorly understood. Though we still have a lot of work to do to ensure confidence in an accurate diagnosis for all rare disease patients and their families, and to ensure the provision of comprehensive, well-coordinated care thanks to scientific research and best clinical practice, there are nevertheless signs of some green shoots emerging.

The UK Rare Disease Forum, established to monitor progress towards the implementation of the Commitments in the UK Strategy for Rare Diseases, publishes its report today. The strategy will run until 2020, so there is still much to be done, but it highlights the progress made so far, in each of the four nations of the UK.

In the research arena there has been significant investment in rare diseases by the National Institute for Health Research, mirroring global developments such as the International Rare Disease Research Consortium. Genomics England is starting to deliver diagnoses to hitherto undiagnosed patients and their families, opening up the possibility of insights into the future of their child, and of others in a similar situation. Of course, translation from research into the delivery of modern healthcare by the NHS is a big challenge. There will be intense public scrutiny of the steps taken by NHS England and its counterpart bodies elsewhere in the UK of all actions taken. However, all of this must be taken in stride to ensure that the insights generated by world class biomedical research, undertaken here in the UK, are able to give confidence to and ultimately be beneficial to patients and their families.

Successful regulations are in place

When the European Union enacted the Orphan Medicinal Products Regulations in 2000, they were something of a shot in the dark. No-one then could have foreseen how successful they would be in stimulating research and development into drugs for rare diseases. In fact, today there are over 1500 orphan designations and 111 drugs licensed for life-limiting rare diseases. The added value that comes from being able to draw on a population of over 500 million compared with the numbers in any single nation of the EU is substantial, and without this investment, rare disease research would undoubtedly be running at a fraction of its current level.

Extreme financial pressure for the NHS

We must not forget that these exciting scientific possibilities are coming to the fore at a time when the NHS is under extreme financial pressure. Just because something can be done does not mean that the NHS will be able to see that it is done. Considerations of cost and benefit are increasingly important when determining where scarce resources are to be allocated. This means that it is incumbent on the NHS, NICE and sister bodies across the UK to develop clear, robust and transparent decision-making frameworks which carry public confidence. At the same time, industry must recognise the need to be creative in its pricing strategy, and prepared to engage in managed access schemes as well as other measures that will secure sustainable access to effective innovations for all patients who need them. Patients and families too have a part to play in this. Patient organisations need to engage in the determination of fair and robust agreements that strike a balance between need, effectiveness and cost in order to enable the NHS to transit this innovation swiftly and sustainably to those who need to benefit, one of its great strengths.

So, as the ancient Chinese saying goes: “May you live in interesting times”. 2016 certainly promises to be interesting. It will require ingenuity, intelligence, determination and compassion to square the circle of novel scientific opportunity, increasing expectation, rising demand and finite resources but on the whole, these problems are a reflection of the success of UK R&D and the contribution this has made to advancing global knowledge. As such, these are challenges that we should welcome and be determined to rise to.

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