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Government Outlines Steps to Tackle Inequalities for Patients with Rare Diseases

A new policy paper "goes further than ever before" to support people living with rare diseases in England, according to the Government. Patients with conditions such as spinal muscular atrophy, haemophilia A, epidermolysis bullosa, or Huntington's disease would be assured of better care, fairer access to testing, and continued support, ministers said today.

Coinciding with Rare Disease Day, 28 February, the plan listed 13 actions developed with rare disease stakeholders that focused on faster diagnosis, increased awareness of rare diseases among healthcare staff, and better access to specialist treatments and drugs.

With more than 7000 rare diseases affecting an estimated 3.5 million people in the UK, it was vital that healthcare professionals have the right training to care appropriately for the needs of patients, NHS England and the Department of Health and Social Care (DHSC) said in a joint statement.

The strategy builds on England's first ever rare diseases plan published last year and the UK-wide Rare Diseases Framework of 2021. In a ministerial foreword, Helen Whately, minister for social care, said initiatives such as newborn screening, Genomics' England's clinical research interface, digital educational tools, and new treatments had contributed to "significant progress", but acknowledged there was "still more to do". 

Treatment and Care Inequalities

The second action plan was designed to help address continued problems many patients faced with poorer access to care and treatment. "We will work to reduce health inequalities faced by people living with rare diseases, lower barriers to participation in clinical research, and improve the way services are commissioned in NHS England," Ms Whately said. Those ambitions were being supported by funding that included "investments of nearly £790 million into biomedical research centres, and a £12 million UK Rare Disease Research Platform" that were essential for "furthering the understanding, diagnosis, and treatment of rare diseases", the minister added.

New commitments in the latest plan included:

  • Increasing data sharing between NHS England, the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) and Genomics England, to help improve understanding of equity of access to genomic testing and supporting interpretation of genomic test results
  • Improving the way in which services for rare diseases are commissioned, through ensuring service specifications support coordinated access to specialist care, treatment, drugs, social care, mental health and special educational support
  • Improving the Be Part of Research platform, to make it easier for people living with rare diseases to participate in research
  • Addressing health inequalities for people living with rare diseases by gathering the evidence needed to include rare diseases in NHS England’s Core20PLUS5 framework (that aims to reduce healthcare inequalities for the most deprived segments of the population), and enabling ICSs to develop targeted actions to reduce these inequalities
  • Evaluating the effectiveness of the UK Rare Diseases Framework and England's action plans in making a difference to people living with rare diseases

Professor Lucy Chappell, chief scientific adviser to the DHSC, said: "The action plan highlights significant advances in rare disease research supported through our funding. There is always more to do, and our commitments will be supported by the recently announced funding for ground-breaking research into the NIHR biomedical research centres and the Medical Research Council (MRC)-NIHR UK Rare Disease Research Platform. This research will continue to drive progress and foster collaboration to translate scientific breakthroughs into clinical advances."

Professor Sir Stephen Powis, NHS England medical director, said: "The NHS is developing a strategic approach to prepare for the breakthroughs of tomorrow and enable rapid patient access to future tests and treatments for rare conditions."

Louise Fish, chief executive of Genetic Alliance UK, commented: "We are particularly pleased that National Institute for Health and Care Research funding will be awarded in Autumn 2023 to develop the evidence base needed to operationalise better coordination of care in the NHS. Many rare conditions are life-long and complex, and we know from listening to people living with rare conditions and their families that well-coordinated care makes a real difference to their quality of life."