Building a better future for people with rare diseases in all four UK nations

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How has rare disease care changed over the last few years? And what might we expect from the next five? We attended the Rare Disease Day Virtual Parliamentary Event to find out.

The rare disease community has a golden opportunity to transform the way care is delivered across all four UK nations – that’s according to speakers at a parliamentary reception held to mark 2021’s Rare Disease Day.

Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework.

Published in January, the document replaces 2013’s UK Strategy for Rare Diseases and sets out four priorities for the next five years: faster diagnosis, increasing awareness among healthcare professionals, the better coordination of care, and improving access to specialist care, treatments, and drugs.

Nick Meade, director of policy at Genetic Alliance UK, said the framework, based on a survey of more than 6,000 people with rare diseases, their families, advocates, and healthcare professionals, represented an opportunity.

“The challenge now is to get the most out of this opportunity. The framework is a UK-wide commitment from the four nations to make progress on these priorities. The detail remains to be written,” he said, explaining that all four nations would now develop their own action plans for the implementation of the framework.

“We need action plans to be comprehensive and ambitious. We want to see measurable commitments because we need to be able to see progress being made.”

“We need action plans to be comprehensive and ambitious. We want to see measurable commitments because we need to be able to see progress being made.”


Mairi Gougeon MSP, minister for public health, sport and wellbeing in Scotland said the country had seen “great advances” in the diagnosis, treatment, and care of rare disease since adopting the UK Strategy for Rare Diseases in 2013.

The Congenital Anomalies and Rare Diseases Registration and Information Service for Scotland (CARDRISS) is in the process of establishing a register of all babies affected by a major structural or chromosomal anomaly, or recognised syndrome, for example.

Although it is not yet complete the dataset is already informing the planning of services. In the future, Gourgeon went on, the data will help NHS Scotland to understand the impact of antenatal screening and to better support research.

“The Scottish Government has supported the transition of genomic testing for inherited rare disease from the research setting into routine care,” she went on.

“As a result of that investment, more families have been able to get the right genetic test and receive an often-long-awaited diagnosis, enabling them to get the support and the treatment they need.”

In terms of next steps, Gougeon said Scotland would establish a Rare Disease Framework Implementation Board to “help oversee” the action plan, which will “take account of the population needs and health systems that we have here in Scotland”.

The board, which will work closely with patient organisations, will hold a series of virtual patient engagement workshops over the summer, she said.


In building their action plans, said minister for innovation Lord Bethell of Romford, teams will strive to use digital tools and data technology, while also striving to maximise collaboration and ensure the patient voice is always heard.

“Beyond the framework we are also currently developing proposals for an innovative medicines fund,” said Lord Bethell, describing it as an extension of the Cancer Drugs Fund.

“It will enable doctors to use highly advanced, life-saving treatments for a range of conditions while NICE, which sets NHS clinical guidelines, will continue to review methods so that the guidance can keep pace with developments.”

On genomics, he added, the country is going “further and faster”, and ensuring synergy between the Rare Disease Framework and the UK Genomic Healthcare Strategy.

“We now know that 80% of rare diseases have a genetic origin. Genomic technology, therefore, has a key role to play in our work,” he said.

“The NHS genomic medicine service, launched in 2018, is leading the drive for more personalised treatment, making genomic sequencing a routine part of diagnosis and treatment, and giving all patients the chance to participate in research.

“When fully rolled out the NHS will be the only integrated healthcare system in the world to routinely offer whole genome sequencing. That is a remarkable feat and I'm extremely proud of it.”


The framework is about giving people with rare diseases a fair and level playing field, said Angela Burns MS, chair of Wales’ CPG on Rare, Genetic and Undiagnosed Conditions.

“Our role is to ensure that those living with a rare disease or an unknown syndrome have a voice, that their voice is heard, and that we raise the bar in ensuring equitable and fair treatment,” she said.

Burns added that a CPG repot had highlighted several priorities for people with rare diseases, including mental health, access to medicines, and the impact of COVID-19. These, she said, would help inform Wales’ action plan.

Dr Graham Shortland, chair of the country’s Rare Diseases Implementation Group, said his team had achieved much since its inception in 2013. Projects have focused on access to medicines, newborn screening and research, he said.

“We are continuing to work with the Welsh government, and we would very much like to see funding for a ‘syndrome without a name’ (SWAN) clinic. I’m seeing lots of good practice with specialist centres being set up, but there is a danger of fragmentation,” he said, adding that a “detailed proposal” was currently being considered by the government.

“It has been strengthened hugely by the Genetic Alliance securing funding from the charitable sector for a SWAN co-ordinator in Wales. We need to push forward on that and confirm the process and timescales by which Wales will develop and publish the action plan.”

Northern Ireland

Rare Diseases Day is an opportunity to “pause and reflect on the achievements” of the rare disease strategy, before “setting our sights” on the framework, said Robin Swann, minister of health.

Northern Ireland’s participation in the 100,000 Genomes Project has been very successful, he said. “Firstly, we recruited patients from all five of our health trusts and sequenced around 1,700 samples from patients and relatives. So far, we have returned a diagnosis to over 50 families who would otherwise not have had one.”

The country has also improved access to new medicines by introducing clinically-led, regional scrutiny committees to the individual patient request process. This enables rapid assessment and decision making for requests that fall outside commissioned services, including off-label treatment.

Swann also spoke about Northern Ireland’s health IT infrastructure replacement project, which will “empower patients through an enhanced and fully integrated electronic healthcare record".

In turn, he went on, the new infrastructure will facilitate the “long overdue development” of a Northern Ireland Rare Disease and Cogenetic Anomaly Register.

Education and awareness have also been high on the team’s priority list, said Swann.

“We know one of the main challenges is the basic lack of awareness, and the frustration this can cause when people have to repeat their story at every step.

“Therefore, we have started to develop rare disease teaching sessions for our undergraduate medical, nursing, and biomedical university curriculum,” he said.

About the author

Amanda Barrell is a freelance health and medical education journalist, editor and copywriter. She has worked on projects for pharma, charities and agencies, and has written extensively for patients, healthcare professionals and the general public.