Molecular diagnostics represents a set of techniques used for analyses of genomic and proteomic biomarkers. These techniques facilitate diagnostics of risk factors responsible for development of certain diseases which enables us to create therapies efficient only in cases of presence of such specific changes in patient’s organism (personalised medicine).
Molecular diagnostics methods are based on in vitro biological tests such as: Real Time PCR or fluorescence in situ hybridisation. These tests are able to detect molecules in very small concentrations originating from the patient’s sample, which is significant in cases where such molecules are markers of a disease.
Molecular diagnostics is also used for identification of infectious diseases, and its most frequent use is in detection of hereditary or acquired mutations responsible for disorders whose manifestations are not visible in the early stages. Monitoring of small changes in the patient’s genome, SNP-Single Nucleotide Polymorphism, helps us to predict the future behaviour/response of patient’s organism (drug metabolism) in application of a prescribed medication (pharmacogenomics).