Asked by: Baroness Wheeler (Labour - Life peer)
Question to the Department of Health and Social Care:
To ask His Majesty's Government, further to the England Rare Diseases Action Plan 2022, published on 28 February, what progress has been made in testing new approaches to diagnosing individuals with rare diseases.
Answered by Lord Markham - Shadow Minister (Science, Innovation and Technology)
In England, the NHS Genomic Medicine Service is provided by a national genomic testing network of seven NHS Genomic Laboratory Hubs. The Hubs deliver testing as directed by the National Genomic Test Directory, which outlines genomic testing offered by the National Health Service, including tests for 3,200 rare diseases and over 200 cancers. The Test Directory is regularly updated to reflect the latest scientific and technological developments, including new clinical indications for rare disease.
NHS England is developing a proposal for a ‘syndrome without a name’ pilot, which aims to reduce the time to diagnosis for patients with undiagnosed rare diseases. Genomics England and the NHS will deliver a study to explore the effectiveness of using whole genome sequencing to find and treat rare genetic diseases in newborn babies. Genomics England has engaged with parents, the public, people with lived experience of rare disease, researchers and healthcare professionals on the practical, ethical and societal issues raised by the study and how it can be delivered. The study will commence in 2023 and will sequence the genomes of 100,000 babies and will gather evidence to consider whether this technology could be deployed in England in the future.
Asked by: Baroness Wheeler (Labour - Life peer)
Question to the Department of Health and Social Care:
To ask His Majesty's Government what public engagement they carried out in 2022 for the NICE Listens programme; what topics NICE Listens will cover in 2023; and whether NICE Listens will include rare diseases in 2023.
Answered by Lord Markham - Shadow Minister (Science, Innovation and Technology)
The 2022 NICE Listens project is examining the public’s views on action for the National Institute for Health and Care Excellence (NICE) on the environmental sustainability of healthcare. NICE commissioned a research agency to conduct three online workshops on this topic in autumn 2022 and the project report will be published early in 2023. While the topic for the 2023 NICE Listens project has not yet been selected, NICE’s approach to rare diseases is one of several topics under consideration.
Asked by: Baroness Wheeler (Labour - Life peer)
Question to the Department of Health and Social Care:
To ask His Majesty's Government what steps they are taking to hold delivery partners, including NHS England, to account on the remaining incomplete actions in the England Rare Diseases Action Plan 2022, published on 28 February.
Answered by Lord Markham - Shadow Minister (Science, Innovation and Technology)
All delivery partners, including NHS England, report on progress at regular meetings of the England Rare Diseases Framework Delivery Group, which provides oversight and coordination for the delivery of England’s Action Plan. Progress reports are made available to stakeholders through the UK Rare Diseases Forum.
The next England Rare Diseases Action Plan is due to be published in early 2023 and will include a summary of progress to date against actions in the 2022 Action Plan and updated metrics and milestones for actions which are ongoing. The England Rare Diseases Framework Delivery Group will continue to meet regularly to monitor and report on progress against these ongoing actions.
Asked by: Baroness Wheeler (Labour - Life peer)
Question to the Department of Health and Social Care:
To ask His Majesty's Government, further to the England Rare Diseases Action Plan 2022, published on 28 February, what is the breakdown of the scope of the NHS’ annual report on the uptake of drugs for patients with rare diseases; and when it will be published.
Answered by Lord Markham - Shadow Minister (Science, Innovation and Technology)
NHS England will provide an annual report on the uptake of drugs recommended in the National Institute for Health and Care Excellence’s highly specialised technology programme for patients with rare diseases by the end of 2022/23. This will include data comparing the actual patients receiving a drug with expected numbers. Where the number of patients is sufficiently high for statistical analysis, this will be reviewed to determine whether uptake has been geographically equitable.
Asked by: Baroness Wheeler (Labour - Life peer)
Question to the Department of Health and Social Care:
To ask His Majesty's Government, further to the England Rare Diseases Action Plan 2022, published on 28 February, when the strategic approach on Advanced Therapy Medicinal Products will be published; and what engagement is being carried out as part of its development.
Answered by Lord Markham - Shadow Minister (Science, Innovation and Technology)
NHS England is continuing to develop its strategic approach on Advanced Therapy Medicinal Products (ATMPs), informed by engagement with patients, providers and the pharmaceutical industry. This is focused on the commissioning and implementation of ATMPs, including service readiness, redesign, investment and provider selection. While no formal publication is currently planned, progress will be reported in England’s Rare Diseases Action Plans.