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The RareCare Project
Aim
Our study will determine 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 will work together to determine the impact of the government’s RD Framework. We will work collaboratively on the following activities making sure that our work is timely and impactful.
Our Approach
1. Measuring what matters
First we will look at how the government defines success. Then we will look at the evidence and find out which datasets can help us measure success. We will involve affected individuals and families through interviews, surveys and focused (co-design) groups to learn what matters most to them, and how we can measure that. We will cover the whole patient journey from diagnosis to end of life. We will pay 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 will analyse data to find out how long it takes for people living with a rare disease to get the right diagnosis. We will conduct interviews and focus groups to test our approach. We will assess whether the NHS is making progress in diagnosing people with rare diseases.
3. Support - (Led by Cambridge University)
We will support 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 will use 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 will determine whether Action Plans are achieving meaningful progress and evaluate the overall impact of the current approach on individuals, families and carers. Evaluation will focus 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 will use real-world data to select tracker conditions and design a process for estimating the time to diagnosis (TTD), obtaining evidence on age at diagnosis and death. Qualitative analyses will be 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