February 2022
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This conference discussed the next steps for rare diseases policy in the UK.
Delegates assessed:
- the Rare Diseases Framework - priorities going forward if its ambitions are to be delivered, as well as progress during its first year
- the impact of the pandemic
- the role of genomics in improving diagnosis and care
- the future for research, treatment access, and system readiness
It was also an opportunity to look at the impact of policy developments within the life sciences and health research landscape, as well as the opportunities these developments present for improving rare disease outcomes - including the Genome UK Implementation Plan, the Life Sciences Vision, the Future of UK Clinical Research Delivery, and the new Innovative Medicines Fund.
Key areas for discussion included:
- the UK Rare Diseases Framework - the way forward, and priorities improvement to diagnosis and care
- implementing Genome UK - what is required to harness genomics to improve the understanding, detection, and treatment of rare genetic conditions
- developing the UK’s research ecosystem - improving access to new and innovative medicine and treatment, and the potential for global leadership in this field
- rare diseases across the health system - raising awareness, meeting new workforce needs, and developing expertise to support high-quality care
We are pleased to have been able to include keynote sessions with: Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics, NHS England and NHS Improvement; Dr Kath Bainbridge, Head of Genomic Science and Emerging Technologies, Department of Health and Social Care; Dr Ellen Thomas, Clinical Director and Director of Quality, Genomics England; Dr Emma Baple, Medical Director, NHS South West Genomic Laboratory Hub; and Clinical Senior Lecturer in Genomic Medicine, University of Exeter; and Professor Kate Tatton-Brown, Clinical Lead, Genomics Education Programme, Health Education England; and Consultant Clinical Geneticist, St George’s University Hospitals NHS Foundation Trust.
The conference was an opportunity for stakeholders to consider the issues alongside key policy officials who attended from the DHSC; Government Office for Science; MHRA; CQC; OLS; DIT; and The Scottish Government.
