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The RareCare Project
Aim
Our study determined if the UK Rare Disease Framework is benefiting people affected by rare diseases in England, how we should measure its performance, and how we could improve it.
How?
Individuals and families, clinicians, policy experts and academics worked together to determine the impact of the government’s RD Framework. We worked collaboratively on the following activities making sure that our work is timely and impactful.
Our Approach
1. Measuring what matters
First we looked at how the government defines success. Then we looked at the evidence to find out which datasets can help us measure success. We involved affected individuals and families through interviews, surveys and focused (co-design) groups to learn what matters most to them, and how we could measure that. We covered the whole patient journey from diagnosis to end of life. We payed special attention to measuring inequalities in the healthcare system.
2. Measuring time to diagnosis
Getting the right diagnosis is a significant challenge faced by people with a rare disease. Reducing the time to diagnosis makes it possible for people to receive appropriate treatment, care, and support sooner. We analysed data to find out how long it takes for people living with a rare disease to get the right diagnosis. We conducted interviews and focus groups to test our approach. We then assessed whether the NHS is making progress in diagnosing people with rare diseases.
3. Support - (Led by Cambridge University)
We supported research being undertaken to improve the coordination of care by Professor Stephen Morris and NHS Cambridgeshire and Peterborough Integrated Care Board (ICB) by incorporating indicators of success in measuring what matters.
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Methodology
RareCare used a mixed-methods approach across Strands 1 and 2. Qualitative research includes two Delphi exercises; surveys; semi-structured interviews, and focus groups with people living with rare diseases, family members, carers and health care professionals.
Strand 1 : Designing high-level evaluation metrics
We determined whether Action Plans are achieving meaningful progress and evaluate the overall impact of the current approach on individuals, families and carers. Evaluation focussed specifically on generating policy-relevant insights, clearly flagging possible levers and opportunities for significantly improving people’s lives, including actionable recommendations for addressing health inequalities. This will cover the whole patient journey from diagnosis to end of life.
Strand 2 : Measuring time to diagnosis
We used real-world data to select tracker conditions and designed a process for estimating the time to diagnosis (TTD), obtaining evidence on age at diagnosis and death. Qualitative analyses was integrated to deliver insights into the performance of TTD models and identify required improvements.
Project Timeline
2026
Process for selecting indicator conditions
2025
Evidence Review
Framework Development
Identification of data sources and indicator conditions
Development of taxonomy
Trialling data sets
Additional data collection and analyses
Time to diagnosis models
Finalising methods
Data analyses
Final report
Primary data collection
Data analyses
Conduct of evaluation
Final Report
End of Project