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.

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