Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what steps his Department is taking to support early (a) diagnosis and (b) treatment for people with (i) spinal muscular atrophy and (ii) other rare, genetic and neuromuscular conditions.
Answered by Will Quince
The 2021 UK Rare Diseases Framework includes priorities on ‘helping patients get a final diagnosis faster’ and ‘improving access to specialist care, treatment and drugs’. NHS England commissions a national network of specialist services offering an integrated clinical and investigative diagnostic and advisory service for patients with specified forms of rare inherited neuromuscular diseases. The network enables all patients with these disorders to access specialised diagnosis and advice on management and treatment. Genomic testing for spinal muscular atrophy (SMA) is currently offered in NHS England under the clinical indications R70, R71 and R311. Genomic testing is also available for a number of other rare, genetic neuromuscular conditions, the full list of which can be found in the National Genomic Test Directory. As with many National Health Service services, the COVID-19 pandemic has had an ongoing impact on the genomic testing pathway. NHS England is working to support recovery to reduce reporting times.
Evidence presented to the UK National Screening Committee (UK NSC) in June provided reasonable grounds for more formal exploration of a United Kingdom newborn screening programme for SMA. The health impacts of time to diagnosis will be considered as part of the UK NSC’s work on SMA.
NHS England is also developing a proposal for a pilot ‘syndromes without a name’ clinic, the aim of which will be to provide better opportunities for diagnosis and to shorten the time to diagnosis through multidisciplinary review and enhanced access to tests. Additionally, the Genomics England Newborn Genomes Programme has been allocated £105 million of Departmental funding to explore whether whole genome sequencing can diagnose rare diseases earlier and improve outcomes for newborns.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what steps his Department is taking to reduce (a) diagnosis and (b) treatment waiting times for people with rare diseases which present in childhood.
Answered by Will Quince
The 2021 UK Rare Diseases Framework includes priorities on ‘helping patients get a final diagnosis faster’ and ‘improving access to specialist care, treatment and drugs’. NHS England commissions a national network of specialist services offering an integrated clinical and investigative diagnostic and advisory service for patients with specified forms of rare inherited neuromuscular diseases. The network enables all patients with these disorders to access specialised diagnosis and advice on management and treatment. Genomic testing for spinal muscular atrophy (SMA) is currently offered in NHS England under the clinical indications R70, R71 and R311. Genomic testing is also available for a number of other rare, genetic neuromuscular conditions, the full list of which can be found in the National Genomic Test Directory. As with many National Health Service services, the COVID-19 pandemic has had an ongoing impact on the genomic testing pathway. NHS England is working to support recovery to reduce reporting times.
Evidence presented to the UK National Screening Committee (UK NSC) in June provided reasonable grounds for more formal exploration of a United Kingdom newborn screening programme for SMA. The health impacts of time to diagnosis will be considered as part of the UK NSC’s work on SMA.
NHS England is also developing a proposal for a pilot ‘syndromes without a name’ clinic, the aim of which will be to provide better opportunities for diagnosis and to shorten the time to diagnosis through multidisciplinary review and enhanced access to tests. Additionally, the Genomics England Newborn Genomes Programme has been allocated £105 million of Departmental funding to explore whether whole genome sequencing can diagnose rare diseases earlier and improve outcomes for newborns.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what assessment he has made of the adequacy of the resources available to the UK National Screening Committee to (a) adequately engage with the rare disease stakeholder community and (b) ensure it takes account of the specific considerations relating to rare diseases.
Answered by Will Quince
The UK National Screening Committee (UK NSC) has dedicated experienced members of the Secretariat to increased and sustained stakeholder engagement, who have been especially focused on rare diseases. They meet regularly with interested organisations to keep them informed of the ongoing work of the UK NSC. The Departmental screening team also attends the Rare Diseases Framework Delivery group meetings where discussions with stakeholders can address specific issues.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what steps his Department plans to take to support the needs of people with (a) spinal muscular atrophy and (b) other rare neurological conditions as part of its implementation of the Rare Diseases Action Plan.
Answered by Will Quince
The UK Rare Diseases Framework and England’s Rare Disease Action Plans are high-level documents containing overarching priorities and underpinning themes for rare disease policy. The documents are focused on improving the lives of all people living with rare conditions, so there are no specific plans to support the needs of people with spinal muscular atrophy (SMA) and other rare neurological conditions in isolation. There are around 7,000 rare conditions, and whilst each is different, people living with rare conditions often face common challenges with the healthcare system and wider services, which the Department seeks to address through the implementation of the England Rare Disease Action Plans.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, with reference to the report by the All-Party Parliamentary Group for Muscular Dystrophy entitled Newborn Screening for Rare Conditions, published in May 2023, what assessment he has made of the implications for his policies of the recommendations of that report that the UK National Screening Committee should (a) give greater consideration to existing real-world evidence and (b) consider international evidence from countries with similar health systems during its review of new conditions to be included within the NHS newborn screening programme.
Answered by Will Quince
The UK National Screening Committee (UK NSC) has published its evidence review process, which outlines the type of evidence taken into consideration when making a screening recommendation, and is available at the following link:
The UK NSC is clear that screening is introduced where the benefit to screen clearly outweighs the harm, this is underpinned by robust peer-reviewed evidence.
The UK NSC considers a wide array of evidence when making recommendations, including published peer-reviewed evidence, public, clinical and academic commentary and real-world evidence undertaken internationally. However, the UK NSC needs to be confident when making screening recommendations that the offer to screen is supported by robust evidence that clearly illustrates that the benefit outweighs the harms.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, with reference to the APPG for Muscular Dystrophy report entitled Newborn Screening for Rare Conditions, published May 2023, what assessment he has made for the implications for his policies of the recommendation that when conditions previously rejected for newborn screening are reassessed, there should be a clear expedited process that demonstrates how gaps will be filled rather than restarting a review process each time.
Answered by Will Quince
The UK National Screening Committee (UK NSC) has published its evidence review process, which is available at the following link:
As outlined in the process, an evidence map is commissioned first. This process deliberately builds on previous evidence and does not start again. This evidence map draws on uncertainties identified from the previous review to identify whether there has been any advancement in the evidence base for that topic before a more significant review is commissioned. The final evidence product (a map or a review) draws attention to the gaps in the evidence that mean the UK NSC cannot confidently recommend screening.
The UK NSC’s process using an evidence map is similar to a process used by the National Institute for Health and Care Excellence.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what assessment his Department has made of the impact of average (a) diagnosis and (b) treatment waiting times on people affected by spinal muscular atrophy.
Answered by Will Quince
NHS England has made no specific assessment of the impact of average diagnosis and treatment waiting times on people affected by spinal muscular atrophy (SMA). However, since the 2018 recommendation not to introduce newborn screening for SMA, there have been significant developments in the treatment of SMA, including the approval by the National Institute for Health and Care Excellence and the Scottish Intercollegiate Guidelines Network of several drugs to treat SMA in newborns. Evidence presented to the UK National Screening Committee (UK NSC) in June provided reasonable grounds for more formal exploration of a United Kingdom newborn screening programme for SMA. The health impacts of time to diagnosis will be considered as part of the UK NSCs modelling work on SMA. The UK NSC are currently in discussions on how best to take this forward.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what steps he plans to take to ensure an equitable uptake of new treatments for (a) spinal muscular atrophy and (b) other rare diseases once recommended by NICE.
Answered by Will Quince
NHS England has undertaken an assessment of uptake of drugs for patients with spinal muscular atrophy and some other rare diseases. The assessment concluded that uptake equalled or exceeded the estimated number of patients in the original National Institute for Health and Care Excellence assessment and that access was equitable regardless of where patients live.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, pursuant to the Answer of 27 June 2023 to Question 190694 on Respiratory Syncytial Virus, what assessment he has made of the implications for his policies of the advice on a universal infant RSV immunisation programme from the Joint Committee for Vaccination and Immunisation, published on 22 June 2023; and whether he has had discussions with the Chancellor of the Exchequer on the budgetary requirements of such a programme.
Answered by Maria Caulfield - Parliamentary Under Secretary of State (Department for Business and Trade) (Minister for Women)
Policy options based on the Joint Committee on Vaccination and Immunisation’s advice on a potentially expanded infant Respiratory Syncytial Virus vaccination programme are being developed. This process includes the Department engaging with HM Treasury to seek budgetary support for a potential programme.
Asked by: Peter Dowd (Labour - Bootle)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what steps he is taking to monitor the National Screening Committee’s progress on reviewing the case for including Spinal Muscular Atrophy in the NHS newborn screening programme; and what his timetable is for making a decision on that matter.
Answered by Will Quince
The review of whether to screen for spinal muscular atrophy (SMA) is under active consideration. At the June UK National Screening Committee (UK NSC) meeting this was tabled for discussion. Minutes of this meeting are available at the following link:
https://www.gov.uk/government/publications/uk-nsc-meeting-june-2023/uk-nsc-minutes-june-2023
The UK NSC supported the proposal to commission a cost effectiveness modelling study and to start planning a high-quality in-service evaluation to support a UK NSC recommendation. Due to these new decisions made at the June meeting, no timetable has yet been developed.
As per the UK NSC’s published process, the committee will hold a three-month public consultation on SMA inviting stakeholders and members of the public to comment and submit further evidence for consideration. It will keep the public abreast of developments via its blogs and ongoing stakeholder engagement activities.