Integrating Molecular Genetics and Clinical Biochemistry in Precision Laboratory Medicine: A Framework for Multimodal Diagnostics and Clinical Implementation
Year: 2026
Type: article
Abstract: Background: Advances in molecular genetics, proteomics, metabolomics, and clinical biochemistry have expanded the information available for precision medicine. Nevertheless, inherited genomic susceptibility and dynamic biochemical phenotypes are often assessed within separate analytical, computational, and clinical frameworks, limiting their integrated interpretation. Integrated Precision Laboratory Medicine (IPLM) is proposed as a translational framework for connecting these complementary information sources to support clinically contextualized diagnostic assessment and decision-making. Methods: This narrative review examines the scientific, analytical, computational, and implementation requirements for integrating inherited genomic information with dynamic biochemical and other molecular phenotypes. It addresses polygenic risk, gene–environment interactions, analytical standardization, metrological traceability, laboratory quality management, digital interoperability, computable electronic health records, and artificial intelligence-enabled clinical decision support. It also considers clinical validation, health technology assessment, governance, and equitable implementation. Results: Integrating relatively stable genomic information with temporally dynamic molecular measurements may improve the contextual interpretation of susceptibility in relation to current biological state, environmental exposures, and clinical circumstances. Realizing this potential requires more than combining heterogeneous datasets. Analytical validity, clinical validity, and clinical utility must be evaluated separately, with particular attention to measurement harmonization, data provenance, transparent computational methods, longitudinal interpretation, and appropriate clinical oversight. Interoperable infrastructure, prospective evaluation, workforce preparedness, reimbursement pathways, and validation across diverse populations are also necessary for responsible implementation. Conclusions: IPLM offers a framework for coordinating molecular genetics and clinical biochemistry within a longitudinal, clinically oriented diagnostic process. Its contribution to precision healthcare will depend on demonstrating incremental value over established clinical and laboratory approaches, validating performance across populations and settings, and establishing meaningful effects on patient outcomes and health-system value. IPLM should therefore be regarded as a testable translational framework whose clinical adoption requires staged validation rather than as an established model of improved clinical outcomes.
Source: Bioengineering
Author: Amr A. Amin
Institutions: Ain Shams University, Umm al-Qura University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,258
OpenAlex ID: W7225828079