May 2023
Price: £95 PLUS VAT
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This conference discussed the next steps for diagnosis, care and treatment for rare diseases.
It was timed to take place following the expected publication of England’s second Rare Diseases Action Plan, and was an opportunity to discuss progress so far on the first action plan and the wider UK Rare Diseases Framework.
Key stakeholders and policymakers discussed priorities for increasing the diagnosis rates of rare diseases, coordinating and personalising care, and the options for utilising digital health methods to support care delivery and accessibility.
Discussion also examined latest developments in genomic technology that can support earlier diagnosis and treatment of rare disease patients, looking at developing new-born screening and the NHS Genomic Medicine Service, which takes forward initiatives in the NHS Long Term Plan to offer whole-genome sequencing as part of routine care.
Further sessions assessed the outlook for developing innovative treatments and therapies for rare diseases, following new assessment processes for highly specialised technologies at NICE, and the launch of the Innovative Medicines Fund.
We are pleased to have been able to include keynote sessions with Dr Kath Bainbridge, Head of Rare Diseases and Emerging Therapies, Department of Health and Social Care; Dr Ellen Thomas, Deputy Chief Medical Officer, Genomics England; Professor Sir Mark Caulfield, Chief Scientist, Queen Mary University of London; and Samantha Barber, Chief Executive, Gene People.
Overall, areas for discussion included:
- progress: assessing efforts so far in delivering the Rare Diseases Framework - taking forward the second Rare Diseases Action Plan
- personalised and coordinated care: transition from paediatric to adult care systems - developing an integrated clinical genomics service - applying patient feedback to improve services
- diagnosis: use of genomics to increase the number of patients who receive a diagnosis for their disease - increasing the speed of diagnosis - utilising new approaches to diagnosis and digital tools
- screening: insights so far - enabling earlier diagnosis - options for inclusion of diseases in new-born screening panels - addressing stakeholder concerns over increased use of genomic services
- treatment access: addressing access challenges - incentivising the manufacture of treatments, including orphan drugs - impact of assessment changes for highly specialised technologies
- R&D: investment and research priorities for novel treatments - optimising the innovative medicines fund - collaboration and patient involvement - connecting patients to research
- genomics: infrastructure and workforce requirements for the delivery of whole-genome sequencing - ethical considerations in genetic testing - the future for genetic therapies
- workforce: next steps for improving workforce awareness and knowledge of rare diseases
The conference was an opportunity for stakeholders to consider the issues alongside key policy officials from the DBT; DHSC; DWP; HSE; MHRA; OHID; and OLS.
