February 28th 2021, marked Rare Disease Day, a day aimed to raise awareness amongst policy makers and the wider public around rare diseases and the impact they have on patients’ lives. Earlier this year, the UK government announced the Rare Diseases Framework, outlining strategy to improve the delivery of care to the 3.5 million people living within the four nations of the UK with a rare disorder. The framework was developed in consultation with rare disease patients, following the National Conversation on Rare Diseases and builds on the successes of the previous 2013 strategy including advances in genomics and diagnostics, Early Access to Medicines Schemes and Ultra-Orphan Medicines Pathway.
The UK Rare Disease Framework sets our four priorities for improving the care of rare disease patients for the next five years:
- Helping patients get a final diagnosis faster
- Increasing awareness of rare diseases amongst healthcare professionals
- Better coordination of care
- Improving access to specialist care, treatments and care
The UK framework recognises the need for “patients to have access to expertise in treatment and care of their rare disease”, adding that “treatment and drugs will require innovation and [that the UK] must harness opportunities to fully realise our global potential”. Roadmaps to adopting evidence-based treatments including EAMS and the Accelerated Access Collaborative (AAC) are amongst initiatives subject to a public engagement exercise in the first quarter of 2021, as well as the ongoing review by NICE to optimise their approach to the HTA evaluation process and highly specialised technology programme.
Underpinning the future success of these priorities are key themes alluding to patient voice, national/international collaboration, scientific research and innovation, greater use of digital, data and technology, in particular within the COVID-19 environment, and wider policy alignment.
However, success is still limited by a number of key challenges and unmet need within the rare disease space. The National Conversation on Rare Disease survey, comprising of 6,000 responses from patients, family, healthcare professionals and life sciences industry revealed that amongst individuals living with rare disease: getting the right diagnosis (30%); awareness amongst healthcare professionals (19%); access to specialist medical care and treatment (17%); coordination of care (16%) were seen as the top 4 challenges (fig.1), whilst the same 4 top challenges were identified amongst healthcare professionals.
Meanwhile, within the life industry: technology appraisals and evaluations (27%); pricing and NHS affordability (17%); cost of research and development (14%); access to relevant data sets and registries (11%) were the top 4 challenges (fig.2).
There is significant awareness amongst healthcare and the pharmaceutical industry to facilitate innovation and access to therapies. It is hoped the framework will address some of these needs as well as overcoming the access and evidence barriers associated with smaller rare disease patient cohorts.