Alongside the broader adoption of genomic data for clinical applications, doctors have increasingly relied upon insights from DNA sequencing to make informed management decisions for critically ill newborns, but what about its utility in screening apparently healthy newborns? This is a question that a team of scientists from Revvity Omics led by Madhuri Hegde sought to uncover in a study that recently appeared in JAMA Network Open.
Behind the Study
The objective of the study was to assess the clinical utility of genome sequencing versus a gene panel for a curated set of medically actionable pediatric-onset conditions in the largest-to-date cohort of apparently healthy newborns and children tested at a single clinical laboratory. Given that the exome-based panel included only 268 genes, more findings were expected from genome analysis (which analyzed 6,000 disease-associated genes); however, the extent of the additional findings remained unknown prior to this study.
Of the 562 apparently healthy children screened by genome sequencing at the Revvity Omics laboratory in Pittsburgh, Pennsylvania, 46 (8.2 percent) were found to be at risk for pediatric-onset diseases, including 22 (3.9 percent) at risk for being very likely to develop a disease. In contrast, only 2.1 percent of the 606 children screened with an exome-based panel were found to be at risk.
The risks uncovered by genome sequencing involved a wide range of pediatric-onset conditions likely to be missed on limited gene panels. Many of these risks involve high-penetrance, often neurodevelopmental disorders that may benefit from early interventions, leading to better prognosis and clinical outcomes.
Future Approach to Newborn Screening
The starkest difference was not so much in the percentage of children found to be at risk (8 percent versus 2 percent), but the heterogeneity of the risks uncovered by genome sequencing, and the fact that close to 50 percent were associated with high-penetrance conditions. The gene panel, when compared to genome sequencing, would have picked up only one-fifth of the high-penetrance conditions, many of which are neurodevelopmental disorders that could potentially benefit from early interventions. Discussions are already underway among the medical community on what genes should be included when screening newborns by sequencing, and the study provides real-world data that may inform these decisions.
The authors of the study believe that the research underscores the power of genomic technologies to revolutionize early disease detection. They noted that the use of proactive genomic screening would enable healthcare professionals to uncover a wide range of risks for looming pediatric onset conditions, allowing for earlier interventions and personalized treatment plans based on individual genetic make-up.
They added that introducing genome sequencing for newborns universally could have an immense impact on population health, heralding a new era of pediatric healthcare. For one, beyond sequencing at birth, recording genomes allow families to keep going back to the data to look for answers to medical issues as they need it — whether it be for immediate care or family planning. The cost of sequencing continues to gradually decrease and soon may be more economical to implement, especially given the costs associated with delayed diagnosis of a rare disease.
Each year, Revvity’s solutions help screen approximately 40 million babies for life-threatening disorders. Revvity Omics has established itself in the world of newborn screening and rare disorders testing, including genomic testing. With access to cutting-edge technologies and experience in offering a broad menu of testing services, its team of experts are providing comprehensive WGS via a global network of laboratories, which includes laboratories in China, India, United States, Sweden, and its newest lab in the United Kingdom. Revvity Omics, under the umbrella of Revvity, Inc., is a key player in advancing health outcomes given its expertise in conceiving or ideating, developing, and then manufacturing instruments and kits, testing to assist clinical trials, and navigating the regulatory approvals process.
There is no doubt that with technological advancements in the fields of genomics and precision medicine, the rate of detection and introduction of treatments for rare conditions has grown considerably, but there is still more to be done. As clinical sequencing continues to evolve, it’s important to conduct studies to better inform the development of screening programs and diagnostic tools. But science alone is not enough — continuous collaboration between healthcare system authorities and governments is needed to ensure that real-world practices can keep step with new findings.
Learn more about Revvity’s solutions for genomic analysis.