GSDs on list of conditions for inclusion in Newborn Genomes Programme research study.
Genomics England has published an initial list of conditions that will be screened for as part of their forthcoming Generation Study, which includes some GSDs.
The study will evaluate the utility and feasibility of screening newborns for a larger number of childhood-onset rare genetic conditions in the NHS, using whole genome sequencing.
Over 200 conditions caused by over 500 genes have been selected for screening as part of the research, which will sequence and analyse the genomes of 100,000 newborn babies in the UK.
The conditions have been selected on the basis of four criteria agreed through stakeholder engagement. These are:
A: There is strong evidence that the genetic variant(s) causes the condition and can be reliably detected.
B: A high proportion of individuals who have the genetic variant(s) would be expected to have symptoms that would have a debilitating impact on quality of life if left undiagnosed.
C: Early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms.
D: Conditions screened for are only those for which the interventions are equitably accessible for all.
On the basis of these criteria the following GSDs will be included in the study:
· GSD 1a: gene G6PC1
· GSD1b and 1c: gene SLC37A4
· GSD 2 (Pompe): gene GAA
· GSD 3: gene AGL
The list of conditions may be subject to further change during the study, in response to emerging research and evidence. Genomics England plans to consult further on whether any additional conditions could potentially be looked for in the future as part of the research and will publicise how this will take place early in 2024.
The Generation Study could potentially pave the way for an expansion in newborn screening that might contribute to more timely diagnoses, better access to care and improved outcomes for babies and their families.
You can find out more at: