Transforming Genomic Care Across the Perinatal–Neonatal Continuum: From Early Detection and Diagnosis to Lifelong Impact

Genomic medicine has profoundly influenced perinatal and neonatal care, offering the potential for earlier detection, precise diagnosis, and informed clinical management of genetic conditions presenting during pregnancy and early childhood. Recent years have seen significant advancements in genomic technologies—such as rapid genome sequencing—enabling faster diagnoses and actionable insights, especially in critical care environments like the NICU.Despite these developments, many healthcare systems maintain fragmented and siloed pathways to accessing genomic care and understanding its impact over the patient's life cycle: prenatal, neonatal, and childhood. This has led to unequal access, variable diagnosed rates, and few insights as to how an early diagnosis altered the patient's health trajectory. Ongoing debates persist regarding best practices for implementation, improving access to genomic care, consent and data management, and how to measure and maximize benefit for patients and families. This Research Topic aims to unify and advance approaches in genomic care spanning pregnancy, birth, and early childhood. Specifically, it seeks to gather and disseminate evidence-driven solutions for integrating genomic testing into routine clinical workflows; define and appraise criteria for testing in perinatal and neonatal populations; and address the ethical, logistical, and family-centered challenges at the intersections of genetics, obstetrical, neonatal, and pediatric care. Contributions are encouraged that clarify the longitudinal impacts of early genomic diagnosis on clinical outcomes, family experience, and health service utilization, as well as strategies to ensure equitable access.The focus is on studies that evaluate practical, scalable, and equitable methods for deploying genomic care from prenatal assessment through neonatal management and into long-term follow-up, within and across healthcare systems. To facilitate further progress, we welcome manuscripts that engage with—but are not limited to—the following themes:• Prenatal and perinatal genomic pathways, including risk assessment, diagnosis, care planning, and interdisciplinary collaboration• Rapid genomic testing in the NICU: workflows, diagnostic outcomes, and actionable results across diverse neonatal conditions• Standardization and clinical implementation: eligibility, integration across teams, and scalable workflows• Variant interpretation, genetic counseling, and strategies for family-centered communication and result return• Addressing equity: consent, data governance, improving access, resource allocation, and reducing disparities• Longitudinal and downstream impact: changes in clinical management, morbidity, neurodevelopment, family outcomes, health system utilization, and cost-effectiveness• Descriptions of phenotype evolution of known genetic conditionsWe encourage the submission of Original Research, Clinical Trials, Implementation or Quality Improvement studies, Systematic Reviews, Methods articles, Cases Series, and Perspectives that offer actionable, evidence-based solutions for advancing genomic care in maternal–newborn–child health. Topic editors: Bimal Pankaj Chaudhari, Kristen Fishler Malone, Kristen Suhrie Source: https://www.frontiersin.org/research-topics/77643/transforming-genomic-care-across-the-perinatal-neonatal-continuum-from-early-detection-and-diagnosis-to-lifelong-impact