Abstract
Personalized medicine is the use of biomarkers, most of them molecular markers, for detection of specific genetic traits to guide various approaches for preventing and treating different conditions. The identification of several genes related to heredity, oncology and infectious diseases lead to the detection of genetic polymorphisms that are involved not only in different clinical progression of these diseases but also in variations in treatment response. Currently, it is possible to detect these polymorphisms using several methodologies: detection of single nucleotide polymorphisms using polymerase chain reaction methods; nucleic acid microarray detection; and nucleic acid sequencing with automatized DNA sequencers using Sanger-derived methods and new generation sequencing. Personalized medicine assays are directed towards detecting genetic variations that alter interactions of drugs with targets or the metabolic pathways of drugs (upstream and downstream) and can be utilized for the selection of drug formulations and detect different immunogenicities of the drug. Personalized medicine applications have already been described in different areas of Medicine and allow specific treatment approaches to be applied to each patient and pathology according to the results of these assays. The application of such a protocol demands an increasing interaction between the clinical laboratory and the clinical staff. For its implementation, a coordinated team composed of basic researchers and physicians highly specialized in their areas supported by a highly specialized team of clinical analysts particularly trained in molecular biology assays is necessary.
Highlights
Personalized medicine is the use of biomarkers, most of them molecular markers, for the detection of specific genetic traits to guide different approaches for preventing and treating various pathologies
The identification of several genes related to heredity, oncology, and infectious diseases leads to the detection of genetic polymorphisms that are involved in different clinical progression of these diseases and in variations in treatment response
Philadelphia chromosome detection by fluorescent in situ hybridization (FISH) or the detection and quantification of the BCR/ABL gene translocation are routinely used in patients with chronic myeloid leukemia (CML)(18) or acute lymphoblastic leukemia (ALL).(19) Imatinib mesylate, dasatinib, or nilotinib are indicated for patients with BCR/ABL and the disease should be followed up by serial quantitative measures of the BCR/ABL.[18]. Patients treated with nilotinib who carry a UGT1A1*28 mutation have a high risk of hyperbilirubinemia.[20]
Summary
Personalized medicine is the use of biomarkers, most of them molecular markers, for the detection of specific genetic traits to guide different approaches for preventing and treating various pathologies. Routine detection of single nucleotide polymorphisms (SNPs) can be achieved in clinical laborator ies using real time polymerase chain reaction (PCR) Other techniques, such as microarray detection or nucleic acid sequencing can be routinely applied, especially when several different polymorphisms might be relevant to predict a particular genotype.[1] New generation sequencing methodologies have been incorporated into clinical laboratories, as they allow the simultaneous analysis of large regions of the genome and even the whole genome sequence, enabling the concurrent identification of different mutations in several genes.[2,3]. Personalized medicine allows specific treatment approaches to be used for each patient and disease according to the results of these genetics assays The application of such a protocol demands increasing interaction between the clinical laboratory and clinical staff. Some examples of clinical situations in which personalized medicine is already being used are detailed below
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