The Unique Utility of Newborn Dried Blood Spots for Driving Discovery in Childhood Cancer Research.
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BACKGROUND: Childhood cancer, though rare, remains the leading cause of disease-related death among children in the United States. The overall incidence has been rising for the past several decades, and the factors underlying the increasing rates are unclear. This unexplained increase underscores the critical need for high-quality, well-powered epidemiologic research to elucidate causes and the natural history of childhood cancers. CONTENT: Newborn screening (NBS) utilizes dried blood spots collected soon after birth to identify serious, treatable conditions and enable timely intervention, testing over 98% of infants born in the United States annually. Some NBS programs allow for the retention and release of residual dried blood spots (rDBS) for research. rDBS enable population-based assessment of both endogenous and exogenous factors, including genetic, epigenetic, metabolic, immune characteristics, and environmental exposures during the perinatal period. This resource can overcome challenges of recall bias, exposure misclassification, and the impracticality of prospective cohort studies for rare cancers. Investigators have successfully used rDBS in epidemiologic studies, substantially advancing knowledge of several types of childhood cancers. Despite variability in storage and analyte stability, rDBS remain an invaluable resource to promote child health and constitute the only widely available prediagnostic biospecimen source for studies of childhood cancers. SUMMARY: rDBS from NBS programs represent a population-based, widely collected, prediagnostic biospecimen to investigate genetic, epigenetic, metabolic, and immune pathways underlying childhood cancer. Despite variability in storage policies, rDBS offer an unparalleled resource to advance etiologic understanding. Their integration into research could transform knowledge of childhood cancer causes and inform strategies for prevention and surveillance.