Genetics, Personalized Medicine, and Clinical Epidemiology Series
- To provide a critical overview of gene expression profiling methodology and discuss areas of future development.
- Diverse methods of large-scale measurements of biological processes have emerged in the last 15 years and their list is growing rapidly. Almost invariably, these advances in omics have been associated with major expectations of transforming not only biological knowledge but also medicine and health. However, practical applications of omics in biomedicine have often suffered from poor attention to issues of validity. As a consequence, major promises of personalized medicine have not yet materialized in improving patient or population outcomes.
- Metabolic phenotyping of humans allows information to be captured on the interactions between dietary, xenobiotic, other lifestyle and environmental exposures, and genetic variation, which together influence the balance between health and disease risks at both individual and population levels.
- In this review, we discuss the potential expectations, validity, predictive ability, and reality of pharmacogenetics in (1) titration of medication dose, (2) prediction of intended (efficacy) drug response, and (3) dose prediction of unintended (adverse) drug response. We expound on what these potential genetic predictors tell us and, more importantly, what they cannot tell us. Although pharmacogenetic markers have been hailed as promising tools, these proclamations are based mainly on associations rather than their evaluation as predictors.