United Kingdom: First national Rare Diseases Action Plan published to mark Rare Disease Day
The UK Government has published England’s first Rare Diseases Action Plan to mark Rare Disease Day 2022. This follows the UK Rare Diseases Framework published in January 2021 which sets out priorities for all 4 nations to speed up diagnosis, raise awareness and improve treatment and care. The framework outlined 4 key national priorities, including helping patients get a final diagnosis faster, increasing awareness among healthcare professionals, better co-ordination of care as well as improving access to specialist care, treatment and drugs. England’s first Rare Diseases Action Plan has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council.
It sets out specific, measurable actions for the next year to be delivered by the Department of Health and Social Care and its partners under each of the 4 priority areas. Actions include improvements to newborn screening, a new digital tool called ‘GeNotes’, which will allow healthcare professionals to quickly access information on rare diseases, developing a toolkit for virtual consultations to increase the effectiveness of video conference and telephone clinic calls, supporting access to new treatments through new programmes like the Innovative Medicines Fund, monitoring uptake of drugs for patients with rare diseases to ensure equal access to treatment across the country, as well as new approaches to care for patients with undiagnosed rare conditions.
The second England Rare Diseases Action Plan will be published at the start of 2023 and will report on progress against the actions set out in the 2022 Action Plan.
