(To fill in the survey relating to this inquiry, please click here)
The focus of the inquiry is to gain a better understanding of the value of newborn screening to individuals with rare conditions and what an appropriate level of evidence should be to support the appropriate expansion of the list of conditions screened for in the programme. Although the inquiry will take an interest in rare conditions in general, there will be a specific focus on SMA given the imminent review of this condition by the UK National Screening Committee (UK NSC).
The UK NSC has set up a Blood Spot Task Group (BSTG) to identify practical and innovative approaches to facilitate research and evidence, which will inform evaluations of blood spot screening. The BSTG was set up in response to the problems of evidence development that has dogged the area of newborn and rare diseases for a long time. This inquiry has been designed to inform their thinking on this important topic.
We are keen to understand the rare condition community's perspective on newborn screening and whether current evidence requirements are appropriate for rare conditions, including feedback on the specific criteria. The current criteria for entry onto the newborn screening programme in the UK can be found here.
The APPG will be seeking evidence, views and experiences from a variety of expert stakeholders as well as people living with a rare condition themselves.
The objectives of the inquiry are:
- To assess the views of people living with rare conditions, particularly SMA, on the potential impact of newborn screening on families, society and the NHS.
- To understand what type of evidence should be considered to allow robust but timely decision-making about adding rare conditions to the UK national screening programme, and how uncertainty arising from evidence in rare disease settings should be handled by the Committee
The APPG invites all stakeholders with relevant knowledge and expertise to submit evidence. In particular, we welcome the input of:
- Children and young people with a rare condition themselves (whether on their own initiative or coordinated through young people’s organisations)
- Professionals and voluntary sector workers who work directly with young people, including neuromuscular care advisors and other healthcare professionals involved in treating people with a rare condition.
- Charities and NGOs that work with or on behalf of children and young people with a rare condition
- Charities and NGOs with expertise in rare conditions and newborn screening
- Academics and researchers involved in existing and ongoing research in this and related areas
- Parents and guardians
- General public
We would welcome your feedback, which can be provided by filling in our survey.
We estimate it will take up to 20 minutes to respond to this survey.
Please note you don’t need to answer all questions if you only have insights on particular sections of the survey. We thank you for your submissions and if you have any questions, please do not hesitate to contact us on campaigns@musculardystrophyuk.org