A Fairer Future: towards a more equitable delivery of care for those with rare diseases and conditions in the UK

27 July 2022

A Fairer Future: towards a more equitable delivery of care for those with rare diseases and conditions in the UK

In January 2021, the UK Rare Disease Framework was published by the Government. This identified four key priorities to be addressed if continued improvement in services and support for the approximately 1 in 17 UK citizens affected by a rare disease is to be realised in the lifetime of this Framework.

It is clear that successful delivery of the Framework will depend on engagement with, and commitment from, a wide range of key stakeholders. Of these, the voice of those most directly affected- the individuals and families living with and / or affected by a rare disease - is crucial to the achievement of this goal.

As a contribution to the evolution of the delivery plans by the four nations, Public Policy Projects convened a series of workshops, each targeted at a key framework priority. The SMA Community was represented at these workshops (by Charlie Mosey, mum of Rupert who has SMA Type 1), which were held to ensure that any proposals for change were pragmatic, achievable and addressed the expressed needs of the rare disease patient community. At each stage, ideas were developed between patient and family representatives and other expert stakeholders to ensure they remained relevant and responsive to the views of the patient community. This report is the culmination of this process, you can read a summary of the recommendations below. We are particularly pleased with recommendation 3.

A Fairer Future – Summary of recommendations

Diagnosis

  • Recommendation 1: As the Genomic Medicine Service is rolled out it is essential that healthcare professionals be informed on the impact this may have on the family.
     
  • Recommendation 2: Once implemented, the aims of the Newborn Screening Programme should be periodically reviewed to ensure the system is flexible enough to accommodate conditions for which new treatments are later developed and approved.
     
  • Recommendation 3: The list of conditions currently screened for, using the heel-prick test, should be expanded by the National Screening Committee to include those such as Spinal Muscular Atrophy (SMA) Type 1, for which a gene therapy exists. This should occur in addition to the ongoing Newborn Screening Programme.
     
  • Recommendation 4: Whole Genome Sequencing (WGS) in newborns may result in a potential 3000 more patients entering the healthcare system every year. It is essential that in ongoing consultations the system be prepared to absorb those diagnosed.
     

Clinical Development

  • Recommendation 5: To level up the delivery of care, building upon the lessons learned from the Covid-19 pandemic and the commitment to develop a toolkit for virtual consultations, a hybrid approach to clinical assessments must be adopted.
     
  • Recommendation 6: The increase in collected data as a result of the Newborn Screening Programme in England, could play a central role in deepening understanding of rare diseases. Building a federated dataset, available across the UK would begin to build the foundations on a UK rare disease patient registry
     

Engagement, Education and Awareness

  • Recommendation 7: Rare Disease Multidisciplinary Teams should be established, to promote the raising of education levels and awareness amongst current healthcare professionals. Cross-pollination of expertise is at the core of furthering professional education.
     
  • Recommendation 8: To harness widespread engagement and raise awareness of rare diseases beyond the healthcare ecosystem, the conversation must be rephrased. A collaborative and crosssectoral recasting of public perception and understanding through the lens of ‘population health impact and intervention’, should work towards harnessing an understanding of the health impacts of rare diseases beyond those directly affected.
     
  • Recommendation 9: Universities, Royal Colleges, Health Education England, and other professional bodies and academic institutions should promote the upskilling and further education of their students and healthcare professionals
     

Coordination of Care

  • Recommendation 10: The key findings and recommendations from the CoOrdiNated Care of Rare Diseases (CONCORD) study should be viewed as a foundation upon which the basis for the planning and delivery of coordinated care is established.
     
  • Recommendation 11: To deliver the maximum possible health gain to the patient and utilise resources to the highest level of efficiency possible, an interdisciplinary and holistic health economic evaluation must be undertaken of current services and resource allocation.
     
  • Recommendation 12: Living with a rare disease places substantial strain on mental health. In anticipation of the reforming of the Mental Health Act, a focus on effectively integrating mental health services and support into rare disease services is essential. Not only for the individual living with the rare disease or condition, but for their family and carers as well.