GENOMICS
into newborn genomic sequencing in England. (Business Wire, 2025) https://
news.revvity.com/press-announcements/ press-releases/press-release-details/2025/ Revvity-Expands-Alliance-with-Genomics- England-to-Drive-Research-into-Newborn- Genomic-Sequencing-in-England/default. aspx
2 Kingsmore SF, Cakici JA, Clark MM, et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio Rapid Whole Genome Sequencing in Ill Neonates. Am J Hum Genet. 2019;105(4):719–733. doi:10.1016/j.ajhg.2019.08.009
3 Genomics England. Newborn Genomes Programme. (Genomics England, 2024)
https://www.genomicsengland.co.uk/ initiatives/newborns
4 Glascock J, Sampson J, Haidet-Phillips A, et al. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. J Neuromuscul Dis. 2018;5(2):145-158. doi:10.3233/JND-180304
Analyses suggest that early genomic diagnosis can lead to significant long-term savings: by avoiding diagnostic odysseys, preventing disease progression, and reducing intensive care stays.
immediate newborn care, but also future decisions related to drug metabolism, disease risk, reproductive planning, and preventive health strategies. Over time, this approach has the potential to shift healthcare from reactive treatment to proactive prevention.
The integration of genomic data with electronic health records (EHRs) and clinical decision support tools will enhance longitudinal care, enabling more tailored and timely interventions. Additionally, large-scale newborn sequencing initiatives can accelerate the discovery of novel therapies and improve the classification of rare diseases; further bridging the gap between diagnostics and therapeutics. Emerging technologies such as gene editing are also expected to expand the number of rare conditions that may be treatable. Genomic insights gained at birth will support not just diagnosis but also the development of targeted treatments and better our understanding of rare diseases.
Building genomic readiness To fully realise the potential of genomic NBS, health systems must invest in education, workforce development, and public engagement. Clinicians, laboratory scientists, genetic counsellors, and policymakers all play vital roles in enabling the ethical and effective use of genomics.
Additionally, patient advocacy 26
groups and parents must be part of the conversation. Transparent communication about the benefits, limitations, and uncertainties of genomic screening is essential to building trust and ensuring informed decision-making. National genomic initiatives, supported by industrial and academic partners, are already contributing to this cultural shift, transforming how we think about health from the very start of life.
Conclusions
Genomic technologies are redefining newborn screening by offering earlier, broader, and more precise detection of rare diseases. When implemented responsibly, WGS-based screening has the potential to revolutionise paediatric care, reduce diagnostic delays, and improve long-term outcomes for affected families.
As shown by pioneering programmes in the UK and globally, genomics can be safely and effectively integrated into population health frameworks. The path forward requires collaboration across clinical, scientific, ethical, and policy domains. But the rewards are immense. Reimagining newborn screening
through the lens of genomics is not merely a technological advancement, it is a public health imperative.
References 1 Revvity. Revvity expands alliance with
Genomics England to drive research
5 Gorzynski JE, Goenka SD, Shafin K, et al. Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. N Engl J Med. 2022;386(7):700-702. doi:10.1056/ NEJMc2112090
6 Milko LV, O’Daniel JM, DeCristo DM, et al. Considerations for return of results in a large genomic sequencing study: Implications of the NCGENES experience for genomic medicine implementation. Genome Med. 2019;11(1):14.
7 Wright CF, McRae JF, Clayton S, et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med. 2018;20(10):1216-1223. doi:10.1038/ gim.2017.246
8 Schwarze K, Buchanan J, Fermont JM, et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Med. 2020;22(1):85-94. doi:10.1038/s41436- 019-0618-7
9 Genomes to people. The BabySeq Project. (G2P, 2025)
https://www.genomes2people. org/research/babyseq/
Dr Madhuri Hegde is the Senior Vice President and Chief Scientific Officer of Revvity and an Adjunct Professor of Pediatrics at Emory University School of Medicine. She has more than 25 years of experience in clinical diagnostics and is board-certified in clinical molecular genetics. She serves on the boards of the American College of Medical Genetics and Genomics Foundation and the American Board of Medical Genetics and Genomics, among others.
www.revvity.com SEPTEMBER 2025
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