Biomarkers are commonly used in pediatric medicine to identify disease and guide clinical management for children. Biomarkers can be used to predict risk of disease, provide diagnostic clarification, and offer prognostic expectations. Specimens for biomarker testing might require noninvasive collection (eg, urine, exhaled breath) or invasive procedures (eg, blood, bronchoalveolar lavage) and testing might use various methodologies (eg, genomics, transcriptomics, proteomics, metabolomics). Specimen type and testing methodology depends on the disease of interest, ability to obtain sample, and availability of biomarker testing. To develop a new biomarker, researchers must first identify and validate the target, and then determine the test characteristics of the biomarker. Once it has undergone initial development and testing, a new biomarker is then tested in the clinical setting before being implemented into practice. An ideal biomarker is one that is feasible to obtain, readily quantifiable, and offers meaningful information that impacts care. Learning how to reliably interpret the performance and clinical application of a new biomarker is an important skillset for all pediatricians in the hospital setting. Here we provide a high-level overview of the process from biomarker discovery to application. In addition, we provide an example for the real-world application of biomarkers as an opportunity for clinicians to build on their ability to critically evaluate, interpret, and implement biomarkers in clinical practice.
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