Innovative Diagnostic Technologies and Their Significance for Personalized Medicine
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Innovative Diagnostic Technologies and Their Significance for Personalized Medicine Kewal K. Jain Jain PharmaBiotech, Basel, Switzerland
Abstract
Molecular diagnostics plays an important role in the development of personalized medicine. Innovative diagnostic technologies that are increasingly utilized in personalizing treatment include novel polymerase chain reaction (PCR), direct molecular analysis without amplification, DNA sequencing, biochips/ microarrays, and nanobiotechnologies. Technologies for detection of copy number variations, single nucleotide polymorphisms, and cytogenetic alterations provide basic information for personalized medicine. Molecular diagnostic technologies are used for the detection of biomarkers, which may form the common basis of diagnostics and therapeutics. Finally, integration of diagnostics with therapeutics is an important component of personalized medicine.
1. Introduction Personalized medicine, also referred to as ‘individualized therapy,’ simply means the prescription of specific treatments and therapeutics best suited to an individual, taking into consideration both genetic and environmental factors that influence response to therapy.[1] The concept of personalized medicine facilitates translation and integration of new technologies for biomarkers/molecular diagnostics and their integration with therapeutics to improve healthcare. Innovations in molecular diagnosis are playing an important role in the development of personalized medicine. Use of diagnostics to understand the molecular mechanisms of an individual patient’s disease will be pivotal in the delivery of safe and effective therapy for many diseases in the future.[2] The role of molecular diagnostics in personalized medicine and the interaction of various technologies is shown in figure 1.
development of personalized medicine is closely linked to biomarkers, which may serve as the basis for diagnosis, drug discovery, and monitoring of diseases. Cancer biomarkers can aid in patient stratification for risk assessment, identification of response to treatment, and prediction of metastatic invasion and survival, thus contributing to the development of personalized therapy for cancer.[4] Identification and characterization of a large number of genetic polymorphisms (biomarkers) in drug-metabolizing enzymes and drug transporters in an ethnically diverse group of individuals may provide substantial knowledge about the mechanisms of inter-individual differences in drug response. Pharmacogenetics is used in preclinical investigations for biomarkers of drug response or drug-induced toxicity, identification of genes with variants that may define patient populations, or comparison of the responses in human and clinical animal models. The application of pharmacogenetic biomarkers should assist in predicting adverse reactions in clinical trials.
2. The Role of Biomarkers in Personalized Medicine Biomarkers are ushering in the age of personalized medicine. A
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