House of Commons · Westminster Hall
09 March 2023 · 3 other contributors · 10,763 words
Opened by Jim Shannon DUP Strangford
Responding minister: Helen Whately
Summarised by AI from the official record, so it can contain mistakes.
Jim Shannon raised concerns about patients with rare diseases — [mr virendra sharma in the chair] in Westminster Hall. A government minister responded.
Key points
Key requests to Government
Shannon asks the government to provide more funding for rare disease research and support the development of effective treatment pathways across the UK. He also requests that discussions take place between the devolved Administrations to collaborate on addressing rare diseases.
MPs spoke in turn to share their views and ask questions. Here's what each person said.
Opened the debate
Mr. Jim Shannon is concerned about the challenges faced by individuals and families dealing with rare diseases, such as Miller Fisher syndrome and pemphigus. He highlights that approximately 3.5 million people in the UK will be affected by a rare disease at some point, yet 95% of rare diseases lack approved treatments. Shannon raises issues like diagnostic delays, the need for better awareness among healthcare professionals, and inadequate funding for research and care.
Rare diseases, though individually rare, collectively affect over 412,000 people in Scotland. Deidre Brock highlighted the challenges faced by those with rare conditions, such as long wait times for diagnosis and difficulties accessing support services. She also emphasized the importance of longer-term funding for research to avoid leaving researchers unable to progress their work due to short-term funding constraints.
Feryal Clark welcomed the Government's 2023 rare diseases action plan but raised questions about funding and implementation, particularly regarding newborn screening with whole genomic sequencing for up to 200 rare genetic conditions. She also highlighted workforce challenges and called for more information on how digital educational resources would be delivered to healthcare professionals.
Ms Liz Twist highlighted the challenges faced by patients with rare diseases, including long diagnostic wait times, difficulties in accessing treatment due to lack of awareness among healthcare professionals, and a need for newborn screening expansion. She also discussed the importance of care co-ordination, mental health support, and research funding for undiagnosed conditions, citing specific cases such as spinal muscular atrophy (SMA) and sickle cell anaemia. Expressed concern that the newborn screening programme may not be rigorous enough compared to other countries, highlighting SMA as an example of a condition where testing progress is slow. Discussed challenges faced by people with rare diseases, including long wait times for diagnoses and difficulties in accessing treatments. Highlighted the importance of research screening and access to the innovative medicines fund.
Government Response
Helen WhatelyAcknowledged the importance of rare disease issues raised by MPs, including the need for faster diagnosis and better care coordination. Noted progress made on diagnosing rare diseases through Genomics England's clinical research interface which helped identify over 1,000 new complex diagnoses in 2022. Emphasised continued efforts to improve awareness among healthcare professionals, co-ordination of care, and access to treatments through initiatives like the innovative medicines fund. Mentioned ongoing work to reduce health inequalities faced by people with rare diseases and committed to further steps for easier participation in research. Announced £12 million funding for the UK rare disease research platform and a £790 million investment from the National Institute for Health and Care Research.