We have some promising news we wanted to share.
Adrenoleukodystrophy (ALD) and Metachromatic Leukodystrophy (MLD) are going to be conditions that will be screened for as part of the Newborn Genomes Programme research study, the Generation Study.
What is the Generation Study?
The Generation Study is an NHS research study which will explore the benefits, challenges and practicalities of sequencing and analysing newborns’ genomes. The study will sequence and analyse the genomes of 100,000 newborn babies in the UK.
Which babies will be included in the study?
The study will take place between October 2023 until April 2025, with the first baby being sequenced in early 2024. In total 30 NHS trusts around the UK will be participating in the study. Parents will be informed about the study when the pregnancy reaches 20 weeks and will be given the choice whether to participate in the study.
Why is the study important?
It is a hybrid clinic-research study that aims to generate evidence on whether whole genome sequencing can be used to screen newborns for rare genetic conditions, and to assess the feasibility of doing this within the NHS.
Does this mean ALD and MLD will be added to the newborn screening programme in the UK?
Unfortunately not. However evidence generated could help to demonstrate how screening for conditions, including ALD and MLD, could contribute to timely diagnoses, access to care and treatment pathways, and support better outcomes and quality of life for babies and their families.
To find out more about the Generation Study: Newborn Genomes Programme