Rare Disease Day 2023!

Department of Health and Social Care commits to improved diagnosis and education for rare conditions


A year on from the publication of the first Rare Diseases Action Plan for England, the Department of Health and Social Care has issued a 2023 action plan.

This second action plan includes 13 new actions “to ensure that everyone living with a rare disease gets the treatment, care and support they need”.

The action plan follows the Rare Disease Framework, which set out commitments to improve the speed of diagnosis, increase access to genetic testing and changes to the way medicines for rare conditions are accessed. The plan also included a welcome commitment to improve education and training frameworks for healthcare professionals working with people with rare conditions.

A recommitment to rare conditions

This recommitment to action on rare conditions is welcome.  

Today’s plan included actions to:

  • Increase data sharing between NHS England (NHSE), The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) and Genomics England. This aims to improve our understanding of equity of access to genomic testing and supporting interpretation of genomic test results
  • Ensure all new and revised service specifications for patients with rare conditions are mapped against the definition of care coordination as set out in Defining Coordinated Care for People with Rare Conditions: A Scoping Review. This will include providing co-ordinated pathways for access to specialist care, treatment, drugs, social care, mental health and special educational support. We are particularly pleased to see commitments to improve mental health support, given our previous concerns about this.
  • Improve the Be Part of Research platform, to make it easier for people living with rare conditions to participate in research, should they choose to do so.
  • Address health inequalities for people living with rare diseases by gathering the evidence needed to include rare diseases in NHS England’s Core20PLUS5 framework.
  • Hold a series of workshops, on topics including non-genetic rare conditions, the transition from paediatric to adult services, and registries.
  • Evaluate the effectiveness of the UK Rare Diseases Framework and England’s Action Plans in making a difference to people living with rare diseases.

However, we are concerned that many aspects of the plan have not yet been implemented.

More to do

  • We are concerned that workforce and services available for people affected by rare neurological conditions continue to fall short of providing the care and support they need. The action plan published today fails to address this.
  • There continues to be a lack of clarity about how many of the actions needed to support the implementation of the rare disease action plan will be funded.
  • We urge the government to ensure the actions identified in the plan have the resources necessary to achieve positive change for people affected by rare neurological conditions.
  • We are also concerned that indicators for measuring the success of the Rare Disease Action plan have not been specified. Without these, it will be impossible to assess whether care needs have been met or accurately measure any improvement in health outcomes.
  • We are concerned that people affected by neurological conditions, including rare neurological conditions, continue to experience a lack of coordinated care that negatively impacts their physical and mental health and quality of life. This must change.

Resource needed to make the rare disease action plan a reality

Georgina Carr, Chief Executive of The Neurological Alliance, said:

“More than half of rare conditions are neurological, and people with rare neurological conditions often report long waits for care, being unable to access support for their mental health and poor care coordination.

Today’s plan is a welcome commitment to the rare neurological community in England. But, without the right resource in place to support implementation, this commitment may not translate into improved quality of life. We urge the Government to use the forthcoming Budget and long-term health workforce plan to ensure the right systems, people and support are in place to make the ambitions of today’s plan a reality.”

Read the 2023 Rare Disease Action Plan here.