Asked by: Karin Smyth (Labour - Bristol South)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what stakeholder engagement she (a) has had and (b) plans to have to develop guidance on the Down Syndrome Act 2022; and whether she plans to engage stakeholder groups representing other genetic conditions with features that overlap with those in Down syndrome.
Answered by Maria Caulfield - Parliamentary Under Secretary of State (Department for Business and Trade) (Minister for Women)
We launched a National Call for Evidence in July 2022 to inform the development of the Down Syndrome Act Guidance, and this remained open for 16 weeks to ensure as many people as possible were able to contribute their views. As part of this call for evidence we also held in-person stakeholder engagement events, including with stakeholder groups representing other genetic conditions. We intend to publish the findings from the Call for Evidence shortly. More recently, on 20 November, the Department hosted a symposium for Down Syndrome leads within integrated care boards. The symposium included experts in Down Syndrome and people with lived experience.
The Department is establishing an advisory group, which I will oversee, to inform our work on the development of the guidance. We will continue to engage with stakeholder groups representing other genetic conditions. I attended and spoke at the 22q11 Syndrome All Party Parliamentary Group reception this month, hosted by the hon. Member for Banff and Buchan.
Asked by: David Duguid (Conservative - Banff and Buchan)
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 potential effect on the public purse of adding a test for 22q11 deletion syndrome to the newborn blood spot test.
Answered by Steve Brine
No assessment has been made on adding a test for 22q11 deletion syndrome to the newborn blood spot test as the United Kingdom National Screening Committee’s (UK NSC) had not previously been asked to look at this condition.
However, as part of the UK NSC`s annual call for topics 2018, a proposal was received to consider adding the condition of 22q11 deletion syndrome (also known as DiGeorge syndrome) to the new born blood spot programme.
This is the first time the UK NSC has been asked to consider screening for 22q11. The UK NSC will be reviewing the proposal at its meeting at the end of the month and to agree next steps. Minutes of the meeting will then be published six weeks after and be made available at the following link:
https://www.gov.uk/government/groups/uk-national-screening-committee-uk-nsc
Asked by: David Duguid (Conservative - Banff and Buchan)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what his Department’s policy is on adding a test for 22q11 deletion syndrome to the newborn blood spot test.
Answered by Steve Brine
No assessment has been made on adding a test for 22q11 deletion syndrome to the newborn blood spot test as the United Kingdom National Screening Committee’s (UK NSC) had not previously been asked to look at this condition.
However, as part of the UK NSC`s annual call for topics 2018, a proposal was received to consider adding the condition of 22q11 deletion syndrome (also known as DiGeorge syndrome) to the new born blood spot programme.
This is the first time the UK NSC has been asked to consider screening for 22q11. The UK NSC will be reviewing the proposal at its meeting at the end of the month and to agree next steps. Minutes of the meeting will then be published six weeks after and be made available at the following link:
https://www.gov.uk/government/groups/uk-national-screening-committee-uk-nsc
Asked by: Layla Moran (Liberal Democrat - Oxford West and Abingdon)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what recent steps he has taken to improve (a) awareness of and (b) diagnosis of 22Q11 deletion syndrome.
Answered by Steve Brine
22q11.2 deletion syndrome is a disorder that involves many different areas of the body and the severity can vary among patients. 22q11.2 deletion syndrome is an integral part of the immunodeficiency section of the training curriculum for paediatric and adult immunologists. In addition, cardiac aspects of 22q deletion syndrome are specifically included in the curriculum for paediatric cardiology.
There are 32 immunology centres accredited or working towards accreditation with the Quality in Primary Immunodeficiency Services programme including a number of paediatric immunology centres located across the United Kingdom, which provide services for patients affected by the disease. Such accreditation processes means that specialist expertise can be more readily available across the country and provide access to the services need in the diagnosis of this disease.
Asked by: Baroness Ritchie of Downpatrick (Labour - Life peer)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health, what assessment he has made of the effectiveness of medication given to patients with 22q11 syndrome; and if he will make a statement.
Answered by George Freeman
No such assessment has been made. There are no medicines currently licensed to treat 22q11 syndrome, but many of the problems experienced by people with the condition can be monitored and treated if necessary.