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Rare Diseases Q3 2023

Newborn genomes research study should answer important questions

iStock / Getty Images Plus / Ozgu Arslan

Nick Meade

Director of Policy, Genetic Alliance UK

The Newborn Genomes Programme will detect rare conditions earlier and find helpful ways to move forward. The first UK baby to be screened using genome sequencing at birth will be born in 2024.

Genomics England’s Newborn Genomes Programme is a research study, which proposes to sequence and analyse the genes of 100,000 babies. It explores the possibility of providing early diagnosis for a range of rare genetic conditions that affect babies’ early years.  

Boundaries of the newborn genomes study 

NHS care pathways for suspected conditions to be followed swiftly by confirmatory tests will be designed in collaboration with parents and healthcare professionals. Genomic data for each baby will be stored for research, with their parent’s consent. Privacy measures will be in place, ensuring responsible data use. The potential of lifelong genomic records will be explored, allowing reanalysis and access to cutting-edge developments throughout participants’ lives.  

The bottom line for rare condition support organisations is that around 1,000 babies are expected to be identified at birth with actionable conditions through the study — most of which might not have been identified so quickly without it. 

Potential benefits for rare conditions 

Timely treatment can mean the difference between a healthy life and the irreversible progression of a condition, particularly where treatments are available. The definition of ‘actionable’ can be broad; for example, parents of babies with fragile bones can be taught ways to handle their newborn baby as safely as possible. Parents of babies identified with a potential condition will be given the information they need to understand their baby’s future.  

Timely treatment can mean the difference
between a healthy life and the irreversible
progression of a condition.

Questions and risks of the study 

Genomics England found public support for this project following a rigorous engagement exercise, and only a comprehensive piece of work will maintain this. How should we handle unpredictable conditions? Do we understand the genomes of the diverse UK population enough to be equitable?  

Would genomic screening be a good use of NHS resources, or would it be better to invest in conventional newborn ‘bloodspot’ tests? These are fascinating and important questions — the best way to answer them is to push ahead and learn.  

Opportunity to treat rare conditions sooner 

Rare condition support organisations want progress in screening; UK adoption of the conventional screening approach is behind more than 20 European countries. This research study could be our opportunity to find more babies with rare conditions sooner to help them and their families. 

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