Integrative Biochemical Diagnostics: From Prenatal Genomics to Environmental and Behavioral Biomarkers

ABSTRACT: Biochemical diagnostics are undergoing a profound transformation driven by advances in genomics, bioinformatics, environmental biosensing, and circadian physiology. This short review synthesizes emerging developments across these domains to propose an integrative framework for modern diagnostic practice. Non-invasive prenatal testing using cell-free fetal DNA and RNA has expanded early detection of genetic and developmental abnormalities, while bioinformatics-driven identification of salivary and metabolic biomarkers has enabled accessible, low-burden assessment of detoxification pathways and metabolic phenotypes. Environmental exposures such as microplastics and endocrine-disrupting chemicals add a critical external dimension to biochemical variation, interacting with culturally mediated behaviors and dietary patterns to shape population-level metabolic traits. Circadian rhythms introduce a temporal layer of physiological regulation, with artificial intelligence now capable of modeling hormonal and metabolic oscillations to improve diagnostic accuracy and chronotherapy planning. Together, these interconnected domains highlight the need for comprehensive, multidimensional diagnostic strategies that reflect the complexity of human biology. Integrating genetic, environmental, cultural, and temporal determinants offers a more precise and equitable pathway toward personalized medicine and population health monitoring.