UK Rare Disease Strategy Overview

Why is a rare disease strategy needed? • Rare diseases are life threatening and chronic conditions affecting fewer than 5 in 10,000 which have a huge impact on patients’ and their families lives. • 1 in 7 people will be affected by a rare disease at some point in their life amounting to approximately 3.5 million people in the UK.1 • At least 80% of rare diseases have an identified genetic origin and 50% of new cases are in children. Overview and Recommendations The first ever UK Rare Disease Strategy was published by the Department of Health on Friday 22nd November 2013. The document sets out 51 recommendations, over 20 of which are focused on research, and aim to improve the care of those affected by a rare disease by putting the needs of patients first. Of the 51 recommendations, the following are key to improving patient outcomes: • Continue to develop service specifications for rare diseases. This will include country specific care pathways and a ‘generic’ care pathway that sets out best practice that can be applied to all patients with rare diseases in in the UK. • Support patients to register on databases, where these exist. • Consider how to give all patients with a rare disease clear and timely information about: their condition and its development; treatment and therapy options; practical support. • Work to achieve reduced times for diagnosis of rare diseases. • Standardise data collection, building upon existing NHS data standards, and develop standards where they do not exist, increasing the reliability of information for use in providing or commissioning care. • Work together to identify a selection of the rare diseases most suited to the development of best-care pathways. • Work with industry to set priorities and determine how best to support research into rare diseases and promote research collaboration.

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All four home nations have committed to implementing the recommendations which focus on 5 areas: • Empowering those affected by rare diseases Patients living with a rare disease must be listened to and provided with information on their condition every step of the way. • Identifying and preventing rare diseases It is important that each nation keeps an overview of prevention and management of rare diseases which can help earlier diagnosis. • Diagnosis and early intervention High quality education and training for health and social care professionals will be supported to help ensure that medical professionals are able to recognise the possibility of a rare disease so that quick referrals can be made to specialists in the relevant field. • Coordination of care Every patient should have a personal care plan which offers more support for the patient and their family. • The role of research The UK will continue to have a leading role in rare disease research to improve the health and wealth of the nation and all four nations will promote the UK as a first choice location for research into rare diseases. The publication of the strategy followed a recommendation by the European Council in 2009, that each EU state must have a rare disease strategy or plan in place by the end of 2013. In 2012, the DH launched a consultation on the UK Plan for Rare Diseases, which received over three hundred and fifty responses from a range of organisations which included individuals, patient organisations and pharmaceutical companies. NHS England will now work with stakeholders and hold a series of events where stakeholders, including patient organisations and commissioners, will be able to put forward changes to local services. Following these, the public will be asked for their opinions on the top priorities and NHS England will publish its plan for implementation in July 2014. Reaction The strategy was welcomed by Earl Howe, DH’s Parliamentary Under Secretary of State for Quality, who has responsibility for rare diseases, and Alastair Kent OBE, chair of Rare Disease UK, the National Alliance for people with rare diseases and all who support them. Earl Howe said; ‘For the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases. This is about putting those patients first, with
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better diagnosis, treatment and support for them and their families. The UK already leads the way with ground-breaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field’. Mr Kent, who was also a member of the stakeholder group that shaped the strategy, said; ‘We are very happy with how the Strategy has come together, patients can now have a clear expectation of what the NHS aspires to provide for them, wherever they live in the UK. This is a huge step forward, and the publication of the Plan will give hope and comfort to the 3.5 million people affected by rare diseases across the UK’. However, although the Specialised Healthcare Alliance welcome the strategy, director John Murray has stressed that 'a robust approach to monitoring must be developed to track the strategy’s impact on patient experience and outcomes'. Brendan Martin, general manager at Genzyme UK and Ireland, a Sanofi company, added ‘[The] publication of a UK-wide strategy is an important step in ensuring that patients affected by rare and complex conditions have the best possible care and are properly served by the NHS’. Political Intelligence’s View The main focus must now be on how the measures outlined in the strategy will become a reality. It will be essential for stakeholders to engage politically to ensure the rapid implementation of the 51 recommendations in the strategy and to potentially secure funding to support research.

Daniel Gooch Associate Director Political Intelligence T: 0203 397 33 00 E:

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