UK first rare disease action plan
Insider Insights

UK: First Rare Diseases Action Plan for England


On 28th February 2022, Health and Social Care Secretary Sajid Javid launched England’s first Rare Diseases Action Plan. The plan has been developed in partnership with NHS England and NHS Improvement (NHSE/I), the National Institute for Health and Care Excellence (NICE), Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council and is intended to “bring about specific and measurable improvements for people living with a rare disease”.

Key Commitments

Among the key commitments included in the plan with respect to medicines are:

  • Improve access to (specialist care, treatment and) drugs through programmes like the planned Innovative Medicines Fund and the Early Access to Medicines Scheme (EAMS).
  • Monitor the overall uptake of drugs for patients with rare diseases and measure geographical access to ensure equal access to treatment across the country.
  • Capitalise on the changes made to NICE’s methods and processes ( NICE HTA changes) to ensure that “NICE continues to support the rapid adoption of effective new treatments for NHS [national health service] patients with rare diseases”.
  • Develop a strategic approach for gene therapies and other advanced therapy medicinal products (ATMPs).
  • Map the rare disease research landscape to identify gaps and priorities for future funding.

Other commitments include improving newborn screening to ensure diagnoses can be made earlier and introducing a new digital tool (‘GeNotes’) to allow healthcare professionals to quickly access information on rare diseases to improve diagnosis.

ABPI Response

Commenting on the plan, the Association of the British Pharmaceutical Industry (ABPI)’s Director of Value and Access policy, Paul Catchpole, stated, “Today’s action plan for England contains welcome commitments to ensure that people with rare diseases get the fast diagnosis, better care and timely access to treatments they desperately need. Without that timely diagnosis, people can miss the window of opportunity for receiving available treatments.

“Nearly 40% of the medicines now in development are for rare or very rare conditions, including many cell and gene therapies, so we very much welcome the commitments to help people get rapid access to them. We would urge all action plan delivery partners to work together, with industry, to make these plans a reality”.

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