GENOMICS
Reimagining newborn screening: the future of population health
As new technologies emerge, integrated, automated genomic workflows are set to revolutionise newborn screening. Here, Madhuri Hegde considers the transformative potential of these new advances, along with the ethical and policy frameworks required for responsible implementation.
Newborn screening (NBS) stands as one of the most successful public health initiatives of the 20th Century, credited with saving countless lives through early identification of treatable conditions. The current gold standard of NBS includes techniques such
as biochemical assays and targeted molecular testing, which have enabled clinicians to initiate, identify and guide life-saving interventions for disorders such as phenylketonuria (PKU). With the expansion of genomic disease knowledge, it is becoming increasingly
clear that traditional gold standard screening methods are unable to identify and diagnose many newer childhood onset genetic conditions.
Genomic technologies – particularly whole genome sequencing (WGS) – are emerging as powerful tools that can broaden the scope, accuracy and impact of NBS programmes. These technologies enable the detection of hundreds of rare inherited conditions before symptoms arise, presenting opportunities for timely intervention, improving not only long-term health outcomes and better use of scarce healthcare funding. At the forefront of this transformation
The Newborn Genomes Programme, led by Genomics England, plans to sequence up to 100,000 genomes to identify more than 200 rare but actionable genetic conditions.
WWW.PATHOLOGYINPRACTICE.COM SEPTEMBER 2025
is Revvity, leveraging its global clinical laboratory testing expertise and advanced capabilities in DNA extraction on difficult samples such as dried blood spots (DBS) and PCR free WGS workflow at its CAP and ISO15189-certified facility in Manchester. As a key partner in the Genomics England Generation Study – which aims to sequence 100,000 newborn genomes – Revvity is demonstrating how high-throughput, automated genomic workflows can enable earlier, more accurate detection of over 200 rare genetic conditions.1 This article explores how integrated, automated genomic workflows are revolutionising NBS, its transformative potential in clinical care and population health, the ethical and logistical
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AdobeStock / Kanishka
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