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Technological breakthroughs have ushered in the next generation of genomics, making it possible to decipher the genetic code of human beings rapidly and cost-effectively. As a result, clinicians today can deliver hyper-personalized, evidence-based prevention and treatment solutions to patients based on their unique genetic profiles.
Next-generation sequencing (NGS) provides efficient, holistic insights into the human genome, including applications for newborn screening (NBS). A recent study conducted by Revvity Omics has shown the clinical value of proactive, sequencing-based screening in apparently healthy newborns and children for medically actionable conditions. How might these findings impact the current NBS landscape and what does it mean to the healthcare system on the global level? To begin to answer these questions, we should look first at NGS as a technology and the improved clinical outcomes it has enabled thus far.
NGS technologies are used today in multiple forms, from more targeted single gene to panels, to more comprehensive assays used for whole exome sequencing (WES) and whole genome sequencing (WGS). While WES focuses on the coding regions of the DNA, certain variants affecting gene function and protein production can occur outside these regions, which are oftentimes left out of WES. With WGS, these variants are detected, providing a wider range of coverage and eventually helping with earlier diagnosis and treatment. In the UK, a well-known example of WGS put into action is the 100,000 Genomes Project. While research and analysis is still ongoing, 18.5% of genetic data generated by the Project has turned into actionable insights for NHS patients with a rare disease or cancer.
When it comes to NBS, similarly, WGS has been shown to provide invaluable insights to families – particularly in the detection of rare diseases. Most, though not all, rare diseases are genetic (72%) and may be apparent at birth. But of the roughly 7,000 known rare diseases, signs and symptoms of certain conditions may not be present until later in development. In cases when a rare disease goes undetected for months or years at a time, critical opportunities for treatment or medical interventions may have been missed. This can lead to life-long health complications that could have been prevented. For seemingly healthy newborns and critically ill babies alike, the potential of WGS to improve long-term health outcomes is clear.
In July 2023, JAMA Network Open published findings from a study conducted by Revvity Omics that illustrate the clinical value of using genome sequencing (GS) to proactively screen apparently healthy newborns. The objective of this research was to assess the clinical utility of genome sequencing versus an exome-based gene panel for a curated set of medically actionable childhood-onset conditions. All screening was initiated by parents and families who received pretesting and post-testing genetic counseling, and all tests were processed at the Revvity Omics laboratory in Pittsburgh, Pennsylvania.
Of the 562 children to undergo GS, researchers identified potential diagnoses in 8.2% of cases. In comparison, 2.1% of babies screened with the gene panel were found to be at risk for childhood-onset diseases. Among the identified risks, approximately half of the GS cohort’s findings were associated with high-penetrance conditions, while only 18.2% in the gene panel group were so. This shows a large number of conditions could have remained undetected with gene-panel testing alone.
Study authors acknowledge that the widespread use of GS for NBS involves many ethical, legal and societal considerations that are not accounted for in their report. Still, with this being the largest, consumer-driven screening of apparently healthy children and newborns to date, it does suggest to the medical community and other involved parties that more patients could stand to benefit from this becoming a more normal practice.
In addition to the immediate benefits of leveraging NGS for NBS, these technologies and the insights they produce could have a more profound impact on the health and well-being of families and future generations. As the price of GS gradually decreases alongside continued improvements in technology, additional studies in the field of proactive GS of apparently healthy individuals could further cement this approach as a valuable one in healthcare.
Public and private sector health organizations will have roles to play in making this happen. For example, apart from advancing research, Revvity Omics maintains a global network of laboratories in China, India, the United States, Sweden and the United Kingdom to deliver “in country, for country” omics-based services to healthcare providers and patients. In doing so, the company is also generating a wealth of information to add to the diversity of genomics databases. This is incredibly important to continue to further our understanding of the genetic underpinnings of health and disease.
Looking ahead, NGS will continue to revolutionize NBS by making early detection more accessible to more patients around the world. By increasing awareness of the benefits of proactive screening, we can expect to see progress in helping more babies get a healthier start to life.
Hiscript About the author: Dr. Madhuri Hegde, FACMG, is the SVP and chief scientific officer of Revvity, responsible for setting the strategic scientific direction of Revvity. As both a medical geneticist and American Board of Medical Genetics and Genomics (ABMGG) certified diplomat in clinical molecular genetics, Madhuri is also the head of Revvity Omics and its global network of laboratories offering innovative, omics-based services in more than 155 countries worldwide.