A new framework developed by researchers from PenARC and the Exeter National Institute for Health and Care Research (NIHR) Policy Research Programme (PRP) Evidence Review Facility is helping NHS England gain a clearer understanding of the health inequities experienced by people living with rare diseases.
Presented in November 2025 by Dr Simon Briscoe – from the PRP facility led by Professor Jo Thompson Coon – at the national launch of NHS England’s Highly Specialised Services (HSS) Health Inequalities Toolkit, the framework maps the range of inequities faced across the rare disease care pathway. It builds on a commissioned scoping review for the Department of Health and Social Care’s Rare Diseases and Emerging Therapies Policy Team, completed as part of Action 28 of the England Rare Diseases Action Plan 2023. The review explores the extent and nature of the inequities people with rare diseases face during diagnosis, access to services, and ongoing care.
“People with a rare disease face many challenges in receiving a diagnosis and accessing services. Many of these challenges stem from avoidable, systemic, and unfair differences in how they experience the health care system compared to the wider population. Addressing these issues is essential for ensuring a fair and equitable health service.” (Dr. Simon Briscoe, Senior Research Fellow, Exeter Policy Research Programme Evidence Review Facility)
By linking documented experiences of inequity to specific mechanisms and outcomes across different care settings, the framework gives commissioners and service providers practical insight into where barriers exist, and where these experiences are exacerbated for sub-groups in the rare disease community, such as women and ethnic minorities.
More than 70 representatives from Highly Specialised Services across England attended the HSS toolkit launch webinar, where Dr Briscoe introduced the framework. He also shared the work with 60 members of Genetic Alliance UK, who are preparing for Rare Disease Day 2026, themed around equity.
The research has attracted strong interest across the policy landscape. Dr Briscoe presented the work at the annual in-person Rare Disease Action Plan delivery group meetings in London in both 2024 and 2025, where the policy team expressed enthusiasm for sharing findings more widely with the rare disease community. An executive summary of the scoping review is now included as an annex in the England Rare Diseases Action Plan 2025.
“The potential impact of this work comes from a combination of our methodological expertise and the strong links we’ve built with the rare disease community, who have been deeply engaged and opened many doors for us to share our findings. We hope that this collaboration will help ensure our research leads to meaningful improvements in policy and practice” (Professor Jo Thompson-Coon, Lead for the Exeter Policy Research Programme Evidence Review Facility)
A pre–peer review version of the framework and accompanying report is available to access here.
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