Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics
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Raffaele Di Francia
Abstract
Background: Genotyping is crucial for the identification of genetic markers underlying the development of neoplastic diseases and for determining individual variations in response to specific drugs. Technologies which can accurately identify genetic polymorphisms will dramatically affect routine diagnostic processes and future therapeutic developments in personalized medicine. However, such methods need to fulfill the principles of analytical validation to determine their suitability to assess nucleotide polymorphisms in target genes.
Approach: This article reviews recent developments in homogeneous technologies for the genotyping of single nucleotide polymorphisms. Here, homogeneous methods essentially refer to “single-tube” assays performed in a liquid phase. For the appropriate choice of any method, several criteria must be considered: 1) detection of known genetic variations; 2) analytical performance including specificity, sensitivity and robustness of the method; 3) availability of large platforms and required equipment; 4) suitability of platforms and tests for routine diagnostics; 5) suitability for high throughput implementation.
Content: This review is intended to provide the reader with an understanding of these various technologies for pharmacogenomic testing in the routine clinical laboratory. A brief overview is provided on the available technologies for the detection of known mutations, a specific description of the homogeneous platforms currently employed in genotyping analysis, and considerations regarding the proper assessment of the analytical performance of these methods. Based on the criteria proposed here, potential users may evaluate advantages and limitations of the various analytical platforms and identify the most appropriate platform according to their specific setting and diagnostic needs.
Clin Chem Lab Med 2010;48:447–59.
©2010 by Walter de Gruyter Berlin New York
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Articles in the same Issue
- Editorials
- Molecular biology and genetics in clinical chemistry and laboratory medicine
- Improving the post-analytical phase
- Reviews
- State of the art in therapeutic drug monitoring
- Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics
- Reference Values and Biological Variations
- Assessment of critical values policies in Italian institutions: comparison with the US situation
- Genetics and Molecular Diagnostics
- Performance evaluation of the Abbott RealTime HCV Genotype II for hepatitis C virus genotyping
- Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions
- FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
- Low expression of human β-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet
- General Clinical Chemistry and Laboratory Medicine
- Evaluation of C-reactive protein and serum amyloid A in the detection of inflammatory and infectious diseases in children
- Procalcitonin measurement in routine emergency medicine practice: comparison between two immunoassays
- Clinical application of a lectin-antibody ELISA to measure fucosylated haptoglobin in sera of patients with pancreatic cancer
- Simultaneous determination of serum tryptophan metabolites in patients with systemic lupus erythematosus by high performance liquid chromatography with fluorescence detection
- Beware of carryover in modern chemistry analyzers
- Correlation between glucose and bupivacaine levels in cerebrospinal fluid after spinal anesthesia: glycorrhachia as predictor for duration of sensory block
- Comparison of different depletion strategies for improving resolution of the human urine proteome
- Cardiovascular Diseases
- Pregnancy-associated plasma protein-A as a marker for long-term mortality in patients with peripheral atherosclerosis: inconclusive findings from the Linz Peripheral Arterial Disease (LIPAD) study
- Association of matrix metalloproteinase 9 genotypes and cardiovascular disease risk factors with serum matrix metalloproteinase 9 concentrations in Taiwanese individuals
- C-reactive protein variants are not associated with susceptibility to stroke and stroke recurrence
- Association of hyperhomocysteinemia with left ventricular dilatation and mass in human heart
- A methodological reappraisal of total and high molecular weight adiponectin determination in human peripheral circulation: comparison of four immunometric assays
- Letters to the Editor
- High specificity but low sensitivity of the cartilage oligomeric matrix protein (COMP) test in rheumatoid arthritis and osteoarthritis
- Disparity in estimated average glucose due to different hemoglobin A1c methods and hemoglobin S trait
