This seminar will consider the priorities for rare disease outcomes and specialised commissioning in England - looking at utilising genomics, priorities for research and improving access to medicines.
The agenda includes keynote contributions from: Professor Dame Sue Hill, Chief Scientific Officer, NHS England; Dr Richard Scott, Clinical Lead, Rare Diseases, Genomics 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 includes case study contributions 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 her experience 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 and key issues for patients;
- Specialised services for rare diseases: workforce and training, patient engagement and co-ordinating care;
- Rare disease research: investment, collaboration and innovation;
- Utilising genomics and personalised medicine in diagnosis and treatment;
- Improving access to medicines for rare diseases;
- The role of NICE in improving treatment for rare diseases: cost effectiveness, value and evaluation; and
- Specialised commissioning: funding, integration and reducing variation.