From First Breath to Lifelong Care: How Newborn Screening Is Being Rebuilt Around Every Child

When the Society for Pediatric Research announced its 2026 Mary Ellen Avery Award, it honored more than an individual career. The award, named for the physician-scientist whose work transformed the survival of premature infants, recognizes a sustained effort to build systems of care that reach every child starting at birth. The 2026 recipient, Wendy K. Chung of Boston Children’s Hospital and Harvard Medical School, has spent her career arguing that the earliest days of life represent the single most powerful window for preventive medicine, and her published reflections in Pediatric Research trace how that conviction has been translated into population-scale programs.

Mary Ellen Avery’s legacy provides the intellectual template for this kind of work. In the 1950s, Avery demonstrated that respiratory distress syndrome in premature newborns was caused by a deficiency of pulmonary surfactant, the lipoprotein mixture that keeps the tiny air sacs of the lung from collapsing with each breath. That insight, derived from careful basic science, eventually produced surfactant replacement therapy, one of the most consequential interventions in modern neonatology. The lesson embedded in her career is that a mechanistic discovery, pursued patiently over decades, can be converted into a system delivered to every infant who needs it. It is precisely that conversion, from knowledge to infrastructure, that the award celebrates.

Chung’s own work sits at the intersection of genetics, pediatrics, and public health. As a human geneticist who has led large-scale genomic medicine initiatives, she has focused on a question that sounds simple but is operationally formidable: which conditions should be looked for in every newborn, and how should the results be delivered to families in a way that changes outcomes rather than merely generating anxiety? The answer determines whether a diagnosis arrives in time to alter the course of a disease or only in time to explain it retrospectively.

The clearest recent example comes from spinal muscular atrophy, a genetic disorder that was, until recently, the leading inherited cause of infant mortality. SMA is caused by loss or mutation of the SMN1 gene, which produces a protein survival motor neurons require. Infants with the most severe form lose motor neurons progressively in the first months of life, and before effective therapy existed, most died of respiratory failure before their second birthday. The disease, however, has a crucial property that makes it an ideal target for newborn screening: intervention is dramatically more effective when it begins before symptoms appear, because motor neurons that have not yet been lost can be preserved.

The therapeutic landscape changed with the development of disease-modifying treatments, most prominently nusinersen, an antisense oligonucleotide that alters splicing of the related SMN2 gene so that it produces more functional survival motor neuron protein. The pivotal randomized trial published in the New England Journal of Medicine in 2017 showed that infants treated with nusinersen had significantly better motor-function outcomes than those receiving a sham control procedure. Suddenly, a fatal diagnosis became a treatable condition, but only if it was identified early enough. Screening became the bottleneck: without systematic detection at birth, infants would still present with established weakness, at which point the therapeutic window had narrowed.

Chung and colleagues addressed this directly in New York State, where a pilot study of population-based newborn screening for spinal muscular atrophy demonstrated that molecular screening could be integrated into existing public health infrastructure. The technical approach relies on detecting the homozygous deletion of SMN1 in dried blood spots, the same heel-prick specimens already collected from every newborn for dozens of metabolic and genetic conditions. The pilot study, published in Genetics in Medicine, established feasibility, laboratory workflow, and the clinical pathway connecting a positive screen to confirmatory testing and rapid treatment initiation. New York subsequently moved from pilot to universal screening, and the model has since been adopted across a growing number of states and countries.

The same logic has been extended to Duchenne muscular dystrophy, another severe neuromuscular condition in which early identification may enable earlier access to emerging therapies. A two-year pilot study of newborn screening for Duchenne in New York, reported in Annals of Clinical and Translational Neurology, evaluated the performance of screening for elevated creatine kinase and confirmatory genetic testing in dried blood spots. These pilots illustrate a recurring pattern in Chung’s career: rigorous, unglamorous implementation science that determines whether a screening concept can actually function at population scale, with acceptable rates of false positives, clear follow-up protocols, and equitable reach across diverse communities.

Chung’s most ambitious project in this space is the GUARDIAN study, a genomic newborn screening program conducted in New York that screened tens of thousands of infants for hundreds of genetic conditions, many of which are actionable in early childhood. Unlike traditional newborn screening, which targets a fixed panel of biochemical markers, genomic screening reads the infant’s DNA directly, allowing a single platform to detect conditions ranging from metabolic disorders to hearing loss to cardiac arrhythmia syndromes. The study received in-kind contributions from GeneDx and Illumina, and its results are shaping the debate over how much genetic information should be gathered at birth and how families should be counseled about findings that range from urgently actionable to uncertain.

The GUARDIAN study also raises the ethical and logistical questions that any system of universal early care must confront. Screening an entire population inevitably identifies infants with variants of uncertain significance, conditions that may never cause symptoms, and incidental findings unrelated to the reason for testing. The design of the program, with defined gene panels focused on childhood-onset, actionable conditions, reflects an attempt to balance the promise of early intervention against the risks of overdiagnosis and medicalization of healthy infancy. Chung’s framing of the work, as building systems of care rather than simply tests, emphasizes that a screen is only as valuable as the clinical pathway behind it: confirmatory diagnostics, genetic counseling, treatment access, and long-term follow-up.

The deeper argument of the Avery Award lecture is historical and structural. Medicine tends to organize itself around the sick patient who arrives at the clinic, but the greatest gains in pediatric health have come from systems that reach children before illness declares itself: vaccination schedules, congenital hypothyroidism screening, hearing screening, pulse oximetry for critical congenital heart disease, and now genomic screening. Each of these required decades of persistence, coalition-building among scientists, public health officials, advocacy groups, and families, and a willingness to demonstrate value through pilot data before universal implementation. Chung’s career, from her leadership in identifying the genetic basis of conditions to her role in designing and executing population screening programs, exemplifies the long gestational period that careers in physician science often require before the birth of innovation reaches patients. In honoring that journey, the Society for Pediatric Research signals to the next generation of pediatrician-scientists that the highest-impact work may not be a single discovery but the patient construction of systems that ensure every child, starting at birth, benefits from what medicine already knows.

Subject of Research: Newborn screening and systems of early pediatric care, including genomic screening for treatable genetic conditions

Article Title: The journey to establishing systems of care for all children, starting at birth: the Society for Pediatric Research’s 2026 Mary Ellen Avery award

Article References: Chung, W. K. (2026). The journey to establishing systems of care for all children, starting at birth: the Society for Pediatric Research’s 2026 Mary Ellen Avery award. Pediatric Research. https://doi.org/10.1038/s41390-026-05580-6

Image Credits: AI Generated

DOI: 10.1038/s41390-026-05580-6

Keywords: newborn screening, spinal muscular atrophy, Mary Ellen Avery, Wendy Chung, GUARDIAN study, genomic medicine, nusinersen, Duchenne muscular dystrophy, pediatric research, public health, SMN1, early intervention