January 2020
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This seminar considered the priorities for rare disease outcomes and specialised commissioning in England - looking at:
- Utilising data and genomics;
- Priorities for research; and
- Improving access to medicines.
The seminar brought together key stakeholders and policymakers to assess progress in implementing the UK Strategy for Rare Diseases.
Delegates discussed the way forward for delivering the 51 commitments set out in the initial strategy to improve the care and treatment for people living with rare diseases - as well as the next steps for policy moving forward.
It was also an opportunity to consider the role of the National Genomic Healthcare Strategy and the impact of genomics on research, diagnosis, and patient outcomes.
Speakers
The agenda included keynote contributions from: Professor Dame Sue Hill, Chief Scientific Officer, NHS England; Dr Richard Scott, Clinical Lead, Rare Diseases, Genomics England; Dr Ayesha Ali, Medical Advisor, Highly Specialised Services, NHS England; Helen Knight, Programme Director, Technology Appraisals and Highly Specialised Technologies, NICE; Dr Jayne Spink, Chief Executive, Genetic Alliance UK and Richard Eaton, Rare Conditions Franchise Lead, Roche.
It also included case study insights from:
- Dr Anneke Seller, Health Education England - on increasing genomics training among healthcare professionals and its impact on delivering services for rare diseases; and
- Dr Larissa Kerecuk, Birmingham Women’s and Children’s NHS Foundation Trust - on developing the UK’s first Paediatric Rare Disease Centre and supporting research into rare diseases.
The agenda in summary
- Rare diseases policy in England and implementing the National Genomic Healthcare Strategy;
- Implementation of the UK Strategy for Rare Diseases;
- Utilising genomics and personalised medicine in diagnosis and treatment;
- The role of NICE in improving treatment for rare diseases - cost effectiveness, value, and evaluation;
- Access to medicines for rare diseases;
- Research priorities - investment, collaboration, and innovation;
- Specialised commissioning - funding, integration, and reducing variation; and
- Service delivery - workforce and training, patient engagement, and co-ordinating care.
