Rare diseases framework flags role for data, tech and collaboration

Those themes, along with putting patients at the heart of decision making and aligning the whole of public policy to support those with rare conditions, form the basis of a new rare diseases framework that the four governments have developed in partnership.

The framework sets out four overarching priorities that all four national governments have agreed to work towards over the next five years. These priorities are to help patients get a final diagnosis faster; increase awareness of rare diseases among healthcare professionals; deliver better coordinated care to patients, and; improve access to specialist care, treatments and drugs.

Separate action plans are to be developed in England, Scotland, Wales and Northern Ireland to achieve the priorities, reflecting the fact that much of health policy is devolved in the UK.

"The development of the new framework is good news for patients and for companies developing diagnostics and medicines in this area – in particular companies developing cell and gene therapies which show such promise in the treatment of rare diseases particularly since 80% of the identified rare diseases have a genetic origin," said life sciences expert Nicole Jadeja of Pinsent Masons, the law firm behind Out-Law.

A rare disease is defined as a condition which affects less than 1 in 2,000 people – more than 7,000 such diseases have been identified, with Huntington’s disease or cystic fibrosis among the most well-known.

In the UK, 3.5 million people have a rare disease. Rare diseases affect small numbers of people who often live far apart, meaning medical practitioners that encounter patients with those conditions may not have the knowledge or experience to make an accurate diagnosis. Rare diseases can also cut across different medical specialities and care providers, with the result being that it can take multiple referrals over several years in some cases for conditions to be accurately diagnosed. This "long diagnostic odyssey" is acknowledged in the governments' new framework.

Jadeja said: "The development of treatment for rare diseases is an area which continues to challenge the traditional model of incentivising innovation. Hopefully, the framework will translate into action plans that will explore incentives for companies in this space – and, importantly, it looks like there will be an opportunity for companies to engage in the debate and shape the action plans at least through the industry associations."

The publication of rare diseases framework is a continuation of concerted efforts across the four nations of the UK in respect of rare diseases, following the agreement of the first UK strategy for rare diseases in 2013. Subsequent developments, including the challenges faced by patients suffering rare diseases during the Covid-19 outbreak and the lessons learned from that, have shaped the new framework.

The UK government said that the aim is for each of the four governments to set out their action plans later this year.

"Key to the achievement of the priorities is an environment in the UK that can attract investment and the right talent for R&D in emerging life sciences fields, such as genomics and cell and gene therapy," said life sciences expert Krishna Kakkaiyadi of Pinsent Masons. "By recognising these needs, the government has hopefully signalled that favourable fiscal and policy initiatives will follow."

The Association of the British Pharmaceutical Industry (ABPI), a trade association representing the interests of pharmaceutical companies in the UK developing new medicines, has welcomed the new framework, as has the UK BioIndustry Assocation (BIA).

Haseeb Ahmed president of the ABPI said: "Cutting edge research means that there will be even more exciting, new treatments developed for rare disease patients."

Steve Bates, chief executive of the BIA said: "Ensuring appraisal processes are ready to deal with the next generation of treatments will be vital." The BIA's recent report, entitled 'A Rare Chance for Reform', set out proposals for change in relation to access to medicines for rare diseases. Both the BIA and ABPI will work with all four UK nations as they develop their action plans. 

Lord Bethell, health minister in England, said: "I want the experiences of those living with a rare disease to shape the priorities of government to make sure our policies work for them. We can harness the potential of new technologies, including genomics, to support earlier detection and faster diagnosis of disease, tailor and target treatments."