Pompe Disease — House of Commons, 2017-10-31
Topic: Health
Stephen Charles Brine (Conservative, Centre-right): Yes, I absolutely agree. I also have ministerial responsibility for cancer—if only I had a pound for every time I heard early diagnosis mentioned in the office. I shall explain how I think the rare diseases strategy can help with that. Of course, it is important not just for rare diseases, but what the hon. Gentleman says is absolutely right The 100,000 Genomes Project addresses parts of the unmet diagnostic need I have described. It focuses on patients with a rare disease and their families and on patients with cancer. The sequencing of an individual’s genome is increasingly utilised as a diagnostic tool in cases where an individual has unrecognised signs and symptoms and to support the diagnosis of a rare disease. I am pleased to say that around 25% of patients whose genome is sequenced through the project now receive a diagnosis for the first time. In addition, despite their often chronic and progressive nature, the associated long-term complications of some rare diseases can be targeted and addressed early if they are diagnosed as such. That is clearly the holy grail. The UK rare diseases policy board has been tasked with looking at the diagnostic issues—the odyssey that I mentioned—and I look forward to it reporting its initial findings to me. I am told that they will come in early 2018, so I shall look out for them I assure the hon. Gentleman that the Government are and remain dedicated to improving the lives of all patients with rare diseases. The publication of the UK strategy for rare diseases in 2013 represented a significant milestone for all patients with rare diseases, and it is now being implemented throughout the country. The strategy set out our strategic vision and contains 51 commitments, concentrating on raising awareness, better diagnosis, which has been touched on, and patient care. It also has a strong emphasis on the importance of research in our quest to better understand and treat rare diseases. Research is so important. The Government are committed to implementing the strategy in full by 2020, and we know that the real test of success will be when patients and families affected by rare diseases experience real improvements The Minister of State, Department of Health, my hon. Friend the Member for Ludlow (Mr Dunne), announced in a 28 March Westminster Hall debate on the implementation of the strategy that NHS England will produce an implementation plan for the commitments in the strategy that it has lead responsibility for, and I shall hold NHS England to account ministerially. The Department of Health is now working collaboratively across stakeholders to produce the implementation plan for all those commitments that fall outside NHS England’s remit. Both NHS England and the Department are aligning the publication of those complementary plans, and I want them on my desk by the end of the year We appreciate the fact that any specific rare disease is, by its nature, very rare, so we should be honest about the fact that there is often a scarcity of patients and expertise in any single country. The diagnosis, treatment and management of rare diseases strongly benefit from cross-border collaboration. Through an EU initiative on patients’ rights in cross-border healthcare, European reference networks were set up throughout European countries earlier this year. These virtual networks act as centres of knowledge, skills and expertise in the field of rare diseases and complex conditions, and provide a platform to create partnerships between healthcare providers here in the UK and throughout Europe The UK is already a key player, leading six ERNs—more than any other member state—and participating in 23 of 24 networks, including what is known as the Metab ERN, which covers rare hereditary metabolic disorders such as Pompe disease. Six NHS trusts participate in the Metab ERN, which aims to ensure a joined-up approach to care by bringing together paediatric and adult metabolic physicians throughout the EU. That is really important. The ERNs are a cornerstone of the UK rare diseases strategy, and the Government are committed to ensuring that no patient should be put at a disadvantage through the UK’s exit from the EU—and that is a priority for me. Therefore, an important element of our future plan will be to continue to play a leading role in promoting and ensuring public health—I am also the Public Health Minister—both in Europe and around the world. Hopefully, that will further strengthen the long tradition of international collaboration, which our clinicians and scientific community have in this country, and often lead across Europe and the world Let me touch further on research. The full potential for improving our knowledge of rare diseases and our work towards better treatment and, hopefully, prevention can only be realised by continued research into rare diseases. That is why the National Institute for Health Research has established 20 biomedical research centres that develop new groundbreaking treatments, diagnostics and care for patients with a wide range of diseases The centres enrolled patients across 60 NHS trusts and, in partnership with Genomics England, led a pilot for the rare diseases element of the 100,000 Genomes Project that has delivered the sequencing of whole genomes of more than 12,000 bioresource participants.