Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics
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 dia...
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Walter de Gruyter ; 2010 |
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13 |
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Walter de Gruyter Online Zeitschriften |
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Enthalten in: Clinical chemistry and laboratory medicine - Berlin [u.a.] : De Gruyter, 1998, 48(2010), 4 vom: 2. März, Seite 447-459 |
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volume:48 ; year:2010 ; number:4 ; day:2 ; month:03 ; pages:447-459 ; extent:13 |
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10.1515/CCLM.2010.112 |
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| 520 | |a 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. | ||
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10.1515/CCLM.2010.112 doi artikel_Grundlieferung.pp (DE-627)NLEJ246730196 DE-627 ger DE-627 rakwb Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics Walter de Gruyter 2010 13 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Walter de Gruyter Online Zeitschriften analytical validations criteria genotyping methods molecular diagnostics Di Francia, Raffaele oth Frigeri, Ferdinando oth Berretta, Massimiliano oth Cecchin, Erika oth Orlando, Claudio oth Pinto, Antonio oth Pinzani, Pamela oth Enthalten in Clinical chemistry and laboratory medicine Berlin [u.a.] : De Gruyter, 1998 48(2010), 4 vom: 2. März, Seite 447-459 (DE-627)NLEJ248235222 (DE-600)1492732-9 1437-4331 nnns volume:48 year:2010 number:4 day:2 month:03 pages:447-459 extent:13 https://doi.org/10.1515/CCLM.2010.112 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 48 2010 4 2 03 447-459 13 |
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10.1515/CCLM.2010.112 doi artikel_Grundlieferung.pp (DE-627)NLEJ246730196 DE-627 ger DE-627 rakwb Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics Walter de Gruyter 2010 13 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Walter de Gruyter Online Zeitschriften analytical validations criteria genotyping methods molecular diagnostics Di Francia, Raffaele oth Frigeri, Ferdinando oth Berretta, Massimiliano oth Cecchin, Erika oth Orlando, Claudio oth Pinto, Antonio oth Pinzani, Pamela oth Enthalten in Clinical chemistry and laboratory medicine Berlin [u.a.] : De Gruyter, 1998 48(2010), 4 vom: 2. März, Seite 447-459 (DE-627)NLEJ248235222 (DE-600)1492732-9 1437-4331 nnns volume:48 year:2010 number:4 day:2 month:03 pages:447-459 extent:13 https://doi.org/10.1515/CCLM.2010.112 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 48 2010 4 2 03 447-459 13 |
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10.1515/CCLM.2010.112 doi artikel_Grundlieferung.pp (DE-627)NLEJ246730196 DE-627 ger DE-627 rakwb Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics Walter de Gruyter 2010 13 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Walter de Gruyter Online Zeitschriften analytical validations criteria genotyping methods molecular diagnostics Di Francia, Raffaele oth Frigeri, Ferdinando oth Berretta, Massimiliano oth Cecchin, Erika oth Orlando, Claudio oth Pinto, Antonio oth Pinzani, Pamela oth Enthalten in Clinical chemistry and laboratory medicine Berlin [u.a.] : De Gruyter, 1998 48(2010), 4 vom: 2. März, Seite 447-459 (DE-627)NLEJ248235222 (DE-600)1492732-9 1437-4331 nnns volume:48 year:2010 number:4 day:2 month:03 pages:447-459 extent:13 https://doi.org/10.1515/CCLM.2010.112 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 48 2010 4 2 03 447-459 13 |
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10.1515/CCLM.2010.112 doi artikel_Grundlieferung.pp (DE-627)NLEJ246730196 DE-627 ger DE-627 rakwb Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics Walter de Gruyter 2010 13 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Walter de Gruyter Online Zeitschriften analytical validations criteria genotyping methods molecular diagnostics Di Francia, Raffaele oth Frigeri, Ferdinando oth Berretta, Massimiliano oth Cecchin, Erika oth Orlando, Claudio oth Pinto, Antonio oth Pinzani, Pamela oth Enthalten in Clinical chemistry and laboratory medicine Berlin [u.a.] : De Gruyter, 1998 48(2010), 4 vom: 2. März, Seite 447-459 (DE-627)NLEJ248235222 (DE-600)1492732-9 1437-4331 nnns volume:48 year:2010 number:4 day:2 month:03 pages:447-459 extent:13 https://doi.org/10.1515/CCLM.2010.112 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 48 2010 4 2 03 447-459 13 |
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10.1515/CCLM.2010.112 doi artikel_Grundlieferung.pp (DE-627)NLEJ246730196 DE-627 ger DE-627 rakwb Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics Walter de Gruyter 2010 13 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Walter de Gruyter Online Zeitschriften analytical validations criteria genotyping methods molecular diagnostics Di Francia, Raffaele oth Frigeri, Ferdinando oth Berretta, Massimiliano oth Cecchin, Erika oth Orlando, Claudio oth Pinto, Antonio oth Pinzani, Pamela oth Enthalten in Clinical chemistry and laboratory medicine Berlin [u.a.] : De Gruyter, 1998 48(2010), 4 vom: 2. März, Seite 447-459 (DE-627)NLEJ248235222 (DE-600)1492732-9 1437-4331 nnns volume:48 year:2010 number:4 day:2 month:03 pages:447-459 extent:13 https://doi.org/10.1515/CCLM.2010.112 Deutschlandweit zugänglich GBV_USEFLAG_U ZDB-1-DGR GBV_NL_ARTICLE AR 48 2010 4 2 03 447-459 13 |
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Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics |
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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. |
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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. |
| abstract_unstemmed |
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. |
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Di Francia, Raffaele Frigeri, Ferdinando Berretta, Massimiliano Cecchin, Erika Orlando, Claudio Pinto, Antonio Pinzani, Pamela |
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