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On Tuesday, 28 February, England’s new Rare Diseases Action Plan will be published, aimed at providing better care and treatment to those living with rare diseases. The plan builds on the first-ever Rare Diseases Action Plan for England published in 2022, which provided digital tools to healthcare staff and helped diagnose 1,000 new complex cases of rare diseases. The new plan outlines 13 actions that focus on faster diagnosis, increased awareness among healthcare staff, better coordination of care, and improved access to specialist care, treatments, and drugs.
Although rare diseases are individually rare, they are collectively common, affecting one in 17 people at some point in their lives. There are over 7,000 rare diseases affecting an estimated 3.5 million people in the UK. Therefore, it is essential that healthcare professionals receive appropriate training to provide care for those affected by rare diseases. The new plan will also help identify health inequalities faced by those with rare diseases and address them through the healthcare system.
The plan also focuses on data sharing to get a full picture of how people are tested for genetic diseases across England, which will help diagnose patients faster. Furthermore, the plan will help people participate in research and join specialist services better, which will reduce health inequalities.
According to Health Minister Helen Whately, the Rare Diseases Action Plan will reduce health inequalities and improve research for patients with rare diseases. The Chief Scientific Adviser, Professor Lucy Chappell, highlights the crucial role of research in furthering the understanding, diagnosis, treatment, and care of people living with rare diseases.
The NHS England medical director, Professor Sir Stephen Powis, acknowledges the great progress made in securing new medicines and developing a strategic approach for future breakthroughs. Dr. Ellen Thomas, Deputy Chief Medical Officer at Genomics England, emphasized the potential of genomics in delivering benefits in diagnosis, treatment, and care for those with rare conditions.
The new Rare Diseases Action Plan for England is a significant step towards providing better care for those living with rare diseases. It is essential to continue working alongside national delivery partners and the rare disease community to improve the lives of those living with rare conditions across the UK.
Source: Gov[Dot]UK
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