Evaluation of the iPLEX® ADME PGx Pro Panel and allele frequencies of pharmacogenetic markers in Danes

Jensen, Line Due; Børsting, Claus; Dalhoff, Kim; Morling, Niels

doi:10.1016/j.clinbiochem.2016.07.014

Cited by 10 publications

(4 citation statements)

References 7 publications

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“…This panel analyzes 192 relevant ADME markers in 36 genes to detect SNPs, INDELs, and CNVs. An alternative high‐throughput approach is the use of capture libraries for sequencing of PGx genes through NGS technology with reduction in cost and increased coverage 15 . The Ion AmpliSeq PGx Panel is an example of multiplex PCR assay performed for NGS library construction focused on selected genomic regions, including 136 markers in 40 relevant PGx genes and sequenced on Ion Torrent platform (Thermo Fisher Scientific).…”

Section: Pgx Genotyping Strategiesmentioning

confidence: 99%

Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice

Arbitrio

Scionti

Martino

et al. 2020

Clinical Translational Sci

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Interindividual variability in drug efficacy and toxicity is a major challenge in clinical practice. Variations in drug pharmacokinetics (PKs) and pharmacodynamics (PDs) can be, in part, explained by polymorphic variants in genes encoding drug metabolizing enzymes and transporters (absorption, distribution, metabolism, and excretion) or in genes encoding drug receptors. Pharmacogenomics (PGx) has allowed the identification of predictive biomarkers of drug PKs and PDs and the current knowledge of genome‐disease and genome‐drug interactions offers the opportunity to optimize tailored drug therapy. High‐throughput PGx genotyping, from targeted to more comprehensive strategies, allows the identification of PK/PD genotypes to be developed as clinical predictive biomarkers. However, a biomarker needs a robust process of validation followed by clinical‐grade assay development and must comply to stringent regulatory guidelines. We here discuss the methodological challenges and the emerging technological tools in PGx biomarker discovery and validation, at the crossroad among molecular genetics, bioinformatics, and clinical medicine.

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Section: Pgx Genotyping Strategiesmentioning

confidence: 99%

Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice

Arbitrio

Scionti

Martino

et al. 2020

Clinical Translational Sci

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“…Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) has been employed in the field of biochemical analysis for over two decades [ 43 ]. In recent years, a MALDI-TOF MS system named MassArray ® has provided sensitive and rapid detection of single-nucleotide polymorphisms (SNPs) and has gained popularity in pharmacogenetics [ 44 ], tumor profiling [ 45 ], liquid biopsy [ 46 ], hereditary genetics [ 47 ], and methylation analysis [ 48 ]. The principle of MassArray ® for genotyping assays is that the designed oligonucleotide primers would anneal directly to the target DNA in front of the SNP, followed by extension by one base in the presence of all four dideoxy nucleotides (ddNTPs).…”

Section: Innovative Analysis Platforms and Methods Used For Sma Genet...mentioning

confidence: 99%

Current Advances in Genetic Testing for Spinal Muscular Atrophy

Zhou,

Jiang

2023

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pinal muscular atrophy (SMA) is one of the most common genetic disorders worldwide, and genetic testing plays a key role in its diagnosis and prevention. The last decade has seen a continuous flow of new methods for SMA genetic testing that, along with traditional approaches, have affected clinical practice patterns to some degree. Targeting different application scenarios and selecting the appropriate technique for genetic testing have become priorities for optimizing the clinical pathway for SMA. In this review, we summarize the latest technological innovations in genetic testing for SMA, including MassArray®, digital PCR (dPCR), next-generation sequencing (NGS), and third-generation sequencing (TGS). Implementation recommendations for rationally choosing different technical strategies in the tertiary prevention of SMA are also explored.

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“…Recruited participants provided written informed consent and sent a questionnaire and buccal swab samples to the Deutsche Knochenmarkspenderdatei Life Science Lab GmbH (Dresden, Germany) for sample collection and DNA extraction. DNA samples were genotyped via the pharmacogenomics services of Agena Bioscience Inc. (Hamburg, Germany) for the application of the iPLEX ® PGx 74 and the VeriDose ® CYP2D6 CNV panel [ 17 ].…”

Section: Methodsmentioning

confidence: 99%

Evaluation of the EMPAR study population on the basis of metabolic phenotypes of selected pharmacogenes

et al. 2022

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The impact of genetic variability of pharmacogenes as a possible risk factor for adverse drug reactions is elucidated in the EMPAR (Einfluss metabolischer Profile auf die Arzneimitteltherapiesicherheit in der Routineversorgung/English: influence of metabolic profiles on the safety of drug therapy in routine care) study. EMPAR evaluates possible associations of pharmacogenetically predicted metabolic profiles relevant for the metabolism of frequently prescribed cardiovascular drugs. Based on a German study population of 10,748 participants providing access to healthcare claims data and DNA samples for pharmacogenetic assessment, first analyses were performed and evaluated. The aim of this first evaluation was the characterization of the study population with regard to general parameters such as age, gender, comorbidity, and polypharmacy at baseline (baseline year) as well as important combinations of cardiovascular drugs with relevant genetic variants and predicted metabolic phenotypes. The study was registered in the German Clinical Trials Register (DRKS) on July 6, 2018 (DRKS00013909).

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Evaluation of the iPLEX® ADME PGx Pro Panel and allele frequencies of pharmacogenetic markers in Danes

Cited by 10 publications

References 7 publications

Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice

Pharmacogenomics Biomarker Discovery and Validation for Translation in Clinical Practice

Current Advances in Genetic Testing for Spinal Muscular Atrophy

Evaluation of the EMPAR study population on the basis of metabolic phenotypes of selected pharmacogenes

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