The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction

Rebsamen, Michela; Desmeules, Jules Alexandre; Daali, Youssef; Chiappe, Alberto; Diemand, Alexander; Rey, C.; Chabert, Jocelyne; Dayer, P.; Hochstrasser, Denis F.; Rossier, Michel F.

doi:10.1038/tpj.2008.7

Cited by 117 publications

(90 citation statements)

References 26 publications

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“…The only other relevant evidence published on the AmpliChip to date has focused on its analytical sensitivity and specificity. 43,[136][137][138][139][140][141] Perhaps the most significant finding from the cohorts using the AmpliChip is that one cohort 109 has reported that differences in RFS between PMs and EMs are significant only when the AmpliChip is used and not when testing for just four common alleles (*4, *5, *10 and *41). More recently, a paper by Schroth et al 121 re-analysed data from German patients in the large Schroth et al cohort 108 and reported that one-third of patients identified as PMs by the AmpliChip were also identified as PMs by testing for only *4 instead.…”

Section: Discussionmentioning

confidence: 99%

The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review.

Fleeman

Saborido²,

Payne³

et al. 2011

Health Technol Assess

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An electronic version of this title, in Adobe Acrobat format, is available for downloading free of charge for personal use from the HTA website (www.hta.ac.uk). A fully searchable DVD is also available (see below).Printed copies of HTA journal series issues cost £20 each (post and packing free in the UK) to both public and private sector purchasers from our despatch agents.Non-UK purchasers will have to pay a small fee for post and packing. For European countries the cost is £2 per issue and for the rest of the world £3 per issue. How to order:-fax (with credit card details) -post (with credit card details or cheque) -phone during office hours (credit card only).Additionally the HTA website allows you to either print out your order or download a blank order form. Contact details are as follows:Synergie UK (HTA Department) Digital House, The Loddon Centre Wade Road Basingstoke Hants RG24 8QW Email: orders@hta.ac.uk Tel: 0845 812 4000 -ask for 'HTA Payment Services' (out-of-hours answer-phone service) Fax: 0845 812 4001 -put 'HTA Order' on the fax header Payment methods Paying by chequeIf you pay by cheque, the cheque must be in pounds sterling, made payable to University of Southampton and drawn on a bank with a UK address.Paying by credit card You can order using your credit card by phone, fax or post. SubscriptionsNHS libraries can subscribe free of charge. Public libraries can subscribe at a reduced cost of £100 for each volume (normally comprising 40-50 titles). The commercial subscription rate is £400 per volume (addresses within the UK) and £600 per volume (addresses outside the UK). Please see our website for details. Subscriptions can be purchased only for the current or forthcoming volume.How do I get a copy of HTA on DVD?Please use the form on the HTA website (www.hta.ac.uk/htacd/index.shtml). HTA on DVD is currently free of charge worldwide.The website also provides information about the HTA programme and lists the membership of the various committees. HTAThe clinical effectiveness and costeffectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review NIHR Health Technology Assessment programmeThe Health Technology Assessment (HTA) programme, part of the National Institute for Health Research (NIHR), was set up in 1993. It produces high-quality research information on the effectiveness, costs and broader impact of health technologies for those who use, manage and provide care in the NHS. 'Health technologies' are broadly defined as all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long-term care. The research findings from the HTA programme directly influence decision-making bodies such as the National Institute for Health and Clinical Excellence (NICE) and the National Screening Committee (NSC). HTA findings also help to improve the quality of clinical practice in the NHS indirectly in that they form a key component of the 'National Knowledge Service' . The HTA programme is needs led...

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Section: Discussionmentioning

confidence: 99%

The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review.

Fleeman

Saborido²,

Payne³

et al. 2011

Health Technol Assess

View full text Add to dashboard Cite

show abstract

“…Al respecto, a partir de 2004, varios medicamentos incluyen información farmacogenética en sus fichas técnicas con datos suficientes para guiar decisiones en el tratamiento 65 . En 2005, la FDA emitió un documento de orientación para la industria sobre los datos de referencia para la determinación del genotipo en enzimas y en el mismo año aprobó la comercialización del primer test farmacogenético de laboratorio basado en genotipos del citocromo P450 66 . Sin embargo, en América Latina la prueba parece no tener resultados óptimos, lo que podría deberse a las diferencias étnicas.…”

Section: Discussionunclassified

Farmacogenómica como herramienta fundamental para la medicina personalizada: aplicaciones en la práctica clínica

et al. 2017

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Pharmacogenomics is an emergent field aimed at tailoring pharmacological therapy. Genetic polymorphisms can modify the expression and function of enzymes and proteins involved in drug metabolism, affecting absorption, distribution, biotransformation and excretion as well asU n hecho bien conocido es que los pacientes responden en forma diferente frente a la farmacoterapia y que ningún medicamento es 100% eficaz en todos los pacientes. Esta respuesta variable se debe, en gran medida, a factores genéticos, epigenéticos y ambientales, que afectan a las proteínas que metabolizan o transportan los fármacos, sus blancos terapéuticos (receptores) o ambos, influenciando tanto su eficacia como su seguridad, y en donde la contribución de cada factor varía en cada fármaco 1-4 . La Tabla 1 resume los factores que condicionan la variación interindividual en la respuesta a fármacos.Debido al desarrollo de técnicas no invasivas de ingeniería genética y biología molecular y a la necesidad de encontrar una explicación a las variaciones en la respuesta a la acción de fármacos es que actualmente la farmacogenómica ha adquirido gran relevancia en la investigación farmacológica. Es así como los resultados de los del Proyectos Genoma Humano 7 , Internacional HapMap 8 1.000 Genomas, el consorcio SNP 9 y los estudios GWAS (Genome-Wide Association Studies) 10 han aportado importantemente a nuestra comprensión de la variación genética humana 5,11,12 . Actualmente se sabe que existen 20.296 genes codificantes, 148.892.479 SNPs (polimorfismos de un solo nucleótido) y 4.363.564 variantes estructurales

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“…Quantitative real-time PCR (qRT-PCR) revealed heterozygosity for CYP2D6*5, which results in hemizygosity at the CYP2D6 locus and explains the apparent homozygosity for the variants defining alleles *4 and *10 in case 4. For heterozygous [20] § CYP2D6 rs3892097 genotype using the Taqman Drug Metabolism Genotyping Assay. ¶ CYP2D6 rs3892097 genotype using WES.…”

Section: Single-gene Testing Of Founder Mutations and Snpsmentioning

confidence: 99%

Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa

Kotze

2016

S Afr Med J

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Corresponding author: M J Kotze (maritha@sun.ac.za)Background. Genetic testing has evolved from a niche speciality for diagnosis of rare disorders and carrier screening to subtyping of complex medical conditions for targeted treatment. Genes causing monogenic disorders are well characterised, but risk management of multifactorial and polygenic disorders guided from the genetic background remains a challenge. Objective. This study describes the use of a pathology-supported genetic testing (PSGT) strategy designed to facilitate the move from single-to multi-gene testing and next-generation sequencing (NGS). Methods. In contrast to direct-to-consumer genetic testing, PSGT requires preselection of patients and data integration to determine current and future risk implications. To enable this process, a genomics database resource generated at the interface between the laboratory and clinic is available for clinical interpretation. Results. The PSGT approach led to the development of testing algorithms for improved clinical management of patients with cancer and other complex disorders with a genetic component. Local evidence is presented to demonstrate the application of PSGT for assessment of clinical relevance in patients with rare germline variants and functional polymorphisms underlying shared disease pathways. Conclusion. PSGT is ideally suited to serve as a screening step for microarray analysis and whole genome/exome sequencing as the next frontier in personalised medicine. Use of these advanced molecular technologies to match genotype with phenotype provides a resource for diagnosis and discovery over a lifetime.

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The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction

Cited by 117 publications

References 26 publications

The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review.

The clinical effectiveness and cost-effectiveness of genotyping for CYP2D6 for the management of women with breast cancer treated with tamoxifen: a systematic review.

Farmacogenómica como herramienta fundamental para la medicina personalizada: aplicaciones en la práctica clínica

Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa

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