Rare Disease Screening Programme

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The Challenge

A pharmaceutical company needed to engage multiple GP practices in a Quality Improvement (QI) Initiative for rare disease screening. Their objectives were clear but challenging:

• Identify undiagnosed patients with a rare disease across a large primary care population
• Avoid the bureaucracy and timeline delays of a formal clinical trial
• Achieve rapid setup across multiple sites simultaneously
• Maintain flexibility to scale up or adjust the programme based on early results
• Generate real-world evidence while improving NHS care delivery

The sponsor wanted to achieve commercial objectives (patient identification and practice engagement) while genuinely improving patient outcomes and NHS service delivery.

Our Solution

Quality Improvement Framework Design

We structured the project as Quality Improvement rather than research, which meant:

• No Research Ethics Committee (REC) approval required
• Simplified governance while maintaining robust oversight
• Faster setup and more flexible implementation
• Practices could adapt protocols to their existing workflows

Network Engagement

We recruited 12 GP practices from our existing network who were willing and capable of participating:

• All practices had experience with clinical research or quality improvement
• Geographic spread across England to capture diverse populations
• Combined patient list size of over 220,000 patients
• Mix of practice sizes and demographics

Practice Support & Training

We provided comprehensive support to ensure consistent, high-quality delivery:

• Developed screening protocols and patient information templates
• Created training materials for all participating practices
• Provided online training sessions for practice staff
• Established clear data collection procedures
• Set up secure systems for reporting and monitoring

Real-Time Project Management

• Weekly progress tracking across all 12 sites
• Rapid problem-solving when practices faced barriers
• Regular communication with sponsor and practice teams
• Data quality monitoring and validation

Scalability & Adaptability

When initial sites showed slower uptake than anticipated, we rapidly onboarded additional practices mid-project to maintain momentum and achieve recruitment targets.

Key Results

Key Success Factors

Flexibility

The QI framework allowed practices to adapt screening methods to their existing workflows. Some practices used phone consultations, others integrated screening into routine appointments, and some used dedicated screening clinics. This flexibility was crucial to achieving high participation rates.

Speed

From initial sponsor contact to first patient screened: under 2 weeks. No REC process, no lengthy approvals – just straightforward GP engagement with appropriate governance. Regulatory simplicity enabled rapid deployment without compromising on quality or ethical oversight.

Legacy Impact

Multiple practices continued screening beyond project completion, creating lasting clinical behavior change – not just a one-off data exercise. The improved screening protocols have become embedded in routine care at several participating practices.

Why Quality Improvement Works

Quality Improvement initiatives offer a powerful alternative to traditional research studies when the primary goal is service improvement alongside evidence generation:

• No REC approval required: Faster setup with appropriate governance
• Practice flexibility: Protocols can be adapted to local workflows
• Genuine NHS benefit: Improves care delivery while meeting commercial objectives
• Patient identification: Identifies undiagnosed patients who may benefit from treatment
• Real-world evidence: Generates authentic data from routine care settings
• Practice engagement: Builds relationships with GPs for future studies

Impact

The pharmaceutical company achieved their commercial objectives – patient identification, practice engagement, and real-world evidence generation – while genuinely improving NHS care for patients with a rare disease.

Several practices have expressed interest in participating in future projects, and the screening protocols developed during this initiative continue to benefit patients beyond the original programme timeframe.