Genetic newborn screening improves case detection: 1 in 500 more affected infants identified

Genetic newborn screening supports early identification of a child’s critical condition, guiding to a better start in life. Large-scale evidence shows that adding next-generation sequencing (NGS) as a first-tier screen catches conditions that standard blood-spot tests miss. The study found one additional affected newborn in every 500 who would have been missed by routine biochemical screening.

Sequencing Catches What Biochemical Tests Miss

In a prospective study published in JAMA Network Open across eight newborn screening centers in China, researchers working with BGI Genomics found that gene-panel screening identified additional affected newborns—about one in every 500—who would have been missed by routine biochemical screening. That single number changes care pathways from day one.

Biochemical assays look for a handful of metabolites. Many actionable genetic diseases leave no clear biochemical trace in the first days of life. Genomic sequencing directly identifies disease-causing DNA variants. As a result, it shortens the diagnostic timelines and guides earlier, targeted care with clear counseling pathways.

The study cohort enrolled 29,601 newborns and ran gene-panel and biochemical screening in parallel. The panel flagged conditions both tests shared and conditions only genetics could see. By follow-up, 402 infants had a confirmed diagnosis. Fifty-nine of those cases were new detections added by the first-tier panel. The study reported a positive predictive value of about 50%, which helps teams move quickly to confirm and act.

In practice, this empowers care teams to spot endocrine, hemoglobin, neuromuscular, and select metabolic disorders before symptoms. They can tailor feeding, infection precautions, or surveillance on day one. It also allows to cut months off the diagnostic odyssey that many families endure.

From Evidence to Everyday Care

Hospitals also need a practical way to run this at scale. BGI Genomics NOVA™ Newborn Genetic Screening Test takes a dried blood spot and sequences 246 genes that cover 112 diseases and 254 subtypes, including metabolic disorders, hereditary deafness, thalassemia, and select neuromuscular diseases. This gives programs a ready path to integrate first-tier genetic screening alongside today’s workflows.

Further independent, recently published research points in the same direction. In New York City, the GUARDIAN trial (a NYC multisite pilot of supplemental newborn genome screening) reported interim results in JAMA: parents accepted sequencing at high rates (72%), labs completed sequencing for 99.6% of babies, and the screen-positive rate reached 3.7% on a predefined gene set that includes conditions without reliable blood biomarkers. These data show feasibility at scale and a route to expand screening where it brings clear clinical action.

Experts also see the clinical upside. “The results show us that genome sequencing can radically improve children’s medical care. It should be instituted as the next standard for newborn screening because it can detect so much more than current methods,” says Joshua Milner, a co-author of the GUARDIAN report and a pediatric immunologist at New York Presbyterian/Columbia University Irving Medical Center.

Programs don’t need to pick panels or genomes on day one. Many start with a targeted panel that adds proven, actionable conditions, then join pilots to assess broader genome approaches. Every positive screening still needs counseling and confirmation.

Newborn screening calls for action that parents can understand. Offer an expanded first-tier screen where evidence shows more children benefit. Use pragmatic tools like NOVA™ to widen the net inside existing workflows. Join pilots that study broader models. Most of all, it turns a routine newborn blood-spot sample into a timely answer that changes a child's childhood.

About BGI Genomics NOVA™ Newborn Genetic Screening

BGI Genomics NOVA™ Newborn Genetic Screening is an efficient genetic disease screening panel for your baby. One-stop screening for 254 common diseases subtypes involving 246 genes such as genetic metabolic diseases, hereditary deafness and thalassemia are provided for all newborns and children.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.