August 2024
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This conference discussed next steps for diagnosis, treatment and care of rare diseases in England.
Stakeholders and policymakers assessed key issues for improving health outcomes for patients with rare diseases, as well as priorities for clinical research and access to innovative treatments.
Delegates discussed strategic direction for rare disease policy in the new parliament, following the 2024 England Rare Diseases Action Plan for delivering the wider UK Rare Diseases Framework.
As well as looking at ambitions in the framework, delegates discussed the way forward for issues being raised as a focus by stakeholders and policymakers including:
- equity in access to specialised care that is close to home for patients, tackling geographical variation, and supporting patients without a diagnosis or genetic condition
- improving the delivery of clinical research and communication around genomics within the workforce
Looking at next steps for earlier detection and diagnosis of rare diseases, delegates assessed strategies for reducing waiting times for genetic testing, developing materials and training for the workforce to understand genomic processes and results, and more efficient ways of utilising data.
Those attending also discussed the newborn screening programme, including the scope of conditions that are covered, as well as practicalities for rolling out whole genome sequencing for babies as part of future iterations of the programme. They also considered how to address challenges in the transition between child and adult services following the recently updated NICE quality standard, as well as developing innovative treatments for children.
The delivery of care for rare diseases was examined, including strategies for monitoring progress in highly specialised care across the country, developing best practice in holistic care for patients, and next steps for fair access to mental healthcare across types of rare conditions.
Further sessions included discussion on progress of the Innovative Medicines Fund in patient access to innovative treatments for rare diseases and the engagement of pharmaceutical companies with the scheme so far. Delegates discussed the role of the Rare Therapies Launch Pad in piloting a pathway to support future development and regulation, as well as funding and considerations on improving models and delivery of clinical trials for rare conditions.
We are pleased to have been able to include keynote sessions with: Dr Graham Shortland, Vice-Chair, UK National Screening Committee; Ana Lisa Tavares, Clinical Lead, Rare Disease Research, Genomics England; Professor Timothy Barrett, Director, Centre for Rare Disease Studies, University of Birmingham; Dr Lucy McKay, CEO, Medics4RareDiseases; and Dr Lincoln Tsang, Partner, Ropes and Gray.
The conference was an opportunity for stakeholders to consider the issues alongside key policy officials who attended from DHSC; MHRA; OLS; UK NSC; and DBT.
The proceedings of the conference will be circulated more widely, to Parliamentarians, ministerial offices, and government and regulatory officials with an interest in the issues being discussed. All delegates will also receive a video recording of the conference.
