Browsing by Author "Hachad, Houda"

Now showing 1 - 8 of 8
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    CYP3A4 and CYP3A5 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase
    (Elsevier, 2023) Pratt, Victoria M.; Cavallari, Larisa H.; Fulmer, Makenzie L.; Gaedigk, Andrea; Hachad, Houda; Ji, Yuan; Kalman, Lisa V.; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; van Schaik, Ron H. N.; Whirl-Carrillo, Michelle; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    The goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations for a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The Association for Molecular Pathology PGx Working Group considered functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations. The goal of this Working Group is to promote standardization of PGx gene/allele testing across clinical laboratories. This document will focus on clinical CYP3A4 and CYP3A5 PGx testing that may be applied to all CYP3A4- and CYP3A5-related medications. These recommendations are not to be interpreted as prescriptive but to provide a reference guide.
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    Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
    (Wiley, 2016-02) Kalman, Lisa V.; Agúndez, José A.G.; Appell, Malin Lindqvist; Bell, Gillian C.; Boukouvala, Sotiria; Bruckner, Carsten; Bruford, Elspeth; Bruckner, Carsten; Caudle, Kelly; Coulthard, Sally; Daly, Ann K.; Del Tredici, Johan T.; Drozda, Katarzyna; Everts, Robin; Flockhart, David; Freimuth, Robert; Gaedigk, Andrea; Hachad, Houda; Hartshorne, Toinette; Ingelman-Sundberg, Magnus; Klein, Teri E.; Lauschke, Volker M.; Maglott, Donna R.; McLeod, Howard L.; McMillin, Gwendolyn A.; Meyer, Urs A.; Müller, Daniel J.; Nickerson, Deborah A.; Oetting, William S.; Pacanowski, Michael; Pratt, Victoria M.; Relling, Mary V.; Roberts, Ali; Rubinstein, Wendy S.; Sangkuhl, Katrin; Schwab, Matthias; Scott, Stuart A.; Sim, Sarah C.; Thirumaran, Ranjit K.; Toji, Lorraine H.; Tyndale, Rachel; van Schaik, Ron HN; Whirl-Carrillo, Michelle; Yeo, Kiang-Teck J.; Zanger, Ulrich M.; Department of Medical & Molecular Genetics, IU School of Medicine
    This manuscript provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
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    PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting
    (Wiley, 2023) Turner, Amy J.; Nofziger, Charity; Ramey, Bronwyn E.; Ly, Reynold C.; Bousman, Chad A.; Agúndez, José A. G.; Sangkuhl, Katrin; Whirl-Carrillo, Michelle; Vanoni, Simone; Dunnenberger, Henry M.; Ruano, Gualberto; Kennedy, Martin A.; Phillips, Michael S.; Hachad, Houda; Klein, Teri E.; Moyer, Ann M.; Gaedigk, Andrea; Medical and Molecular Genetics, School of Medicine
    The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation. CYP2D6 contributes to the metabolism of numerous drugs and, thus, genetic variation in its gene impacts drug efficacy and safety. To accurately predict a patient's CYP2D6 phenotype, testing must include structural variants including gene deletions, duplications, hybrid genes, and combinations thereof. This tutorial offers a comprehensive overview of CYP2D6 structural variation, terms, and definitions, a review of methods suitable for their detection and characterization, and practical examples to address the lack of standards to describe CYP2D6 structural variants or any other pharmacogene. This PharmVar tutorial offers practical guidance on how to detect the many, often complex, structural variants, as well as recommends terms and definitions for clinical and research reporting. Uniform reporting is not only essential for electronic health record-keeping but also for accurate translation of a patient's genotype into phenotype which is typically utilized to guide drug therapy.
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    Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology
    (Elsevier, 2018) Pratt, Victoria M.; Del Tredici, Andria L.; Hachad, Houda; Ji, Yuan; Kalman, Lisa V.; Scott, Stuart A.; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    This document was developed by the Pharmacogenetics (PGx) Working Group of the Association for Molecular Pathology Clinical Practice Committee, whose aim is to recommend variants for inclusion in clinical pharmacogenetic testing panels. The goals of the Association for Molecular Pathology PGx Working Group are to define the key attributes of PGx alleles recommended for clinical testing and to define a minimum set of variants that should be included in clinical PGx genotyping assays. These recommendations include a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing PGx assays. The Working Group considered variant allele frequencies in different populations and ethnicities, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations. These CYP2C19 genotyping recommendations are the first of a series of recommendations for PGx testing. These recommendations are not to be interpreted as restrictive, but they are meant to provide a helpful guide.
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    Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists
    (Elsevier, 2019) Pratt, Victoria M.; Cavallari, Larisa H.; Del Tredici, Andria L.; Hachad, Houda; Ji, Yuan; Moyer, Ann M.; Scott, Stuart A.; Whirl-Carrillo, Michelle; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    The goals of the Association for Molecular Pathology Pharmacogenomics (PGx) Working Group of the Association for Molecular Pathology Clinical Practice Committee are to define the key attributes of PGx alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document provides recommendations for a minimum panel of variant alleles (Tier 1) and an extended panel of variant alleles (Tier 2) that will aid clinical laboratories when designing assays for CYP2C9 testing. The Working Group considered the functional impact of the variants, allele frequencies in different populations and ethnicities, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations. Our goal is to promote standardization of testing PGx genes and alleles across clinical laboratories. These recommendations are not to be interpreted as restrictive but to provide a reference guide. The current document will focus on CYP2C9 testing that can be applied to all CYP2C9-related medications. A separate recommendation on warfarin PGx testing is being developed to include recommendations on CYP2C9 alleles and additional warfarin sensitivity–associated genes and alleles.
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    Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy
    (Elsevier, 2021) Pratt, Victoria M.; Cavallari, Larisa H.; Del Tredici, Andria L.; Gaedigk, Andrea; Hachad, Houda; Ji, Yuan; Kalman, Lisa V.; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; van Schaik, R.H.N.; Whirl-Carrillo, Michelle; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    The goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing, and to determine a minimal set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations on a minimal panel of variant alleles (Tier 1) and an extended panel of variant alleles (Tier 2) that will aid clinical laboratories in designing assays for PGx testing. When developing these recommendations, the Association for Molecular Pathology PGx Working Group considered the functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations with regard to PGx testing. The ultimate goal of this Working Group is to promote standardization of PGx gene/allele testing across clinical laboratories. This document is focused on clinical CYP2D6 PGx testing that may be applied to all cytochrome P450 2D6-metabolized medications. These recommendations are not meant to be interpreted as prescriptive but to provide a reference guide for clinical laboratories that may be either implementing PGx testing or reviewing and updating their existing platform.
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    Recommendations for Clinical Warfarin Genotyping Allele Selection
    (Elsevier, 2020-07) Pratt, Victoria M.; Cavallari, Larisa H.; Del Tredici, Andria L.; Hachad, Houda; Ji, Yuan; Kalman, Lisa V.; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; Whirl-Carrillo, Michelle; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    The goal of the Association for Molecular Pathology (AMP) Clinical Practice Committee's AMP Pharmacogenomics (PGx) Working Group is to define the key attributes of PGx alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations for a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The AMP PGx Working Group considered functional impact of the variants, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations. The ultimate goal is to promote standardization of PGx gene/allele testing across clinical laboratories. These recommendations are not to be interpreted as prescriptive but to provide a reference guide. Of note, a separate article with recommendations for CYP2C9 allele selection was previously developed by the PGx Working Group that can be applied broadly to CYP2C9-related medications. The warfarin allele recommendations in this report incorporate the previous CYP2C9 allele recommendations and additional genes and alleles that are specific to warfarin testing.
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    TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase
    (Elsevier, 2022-10) Pratt, Victoria M.; Cavallari, Larisa H.; Fulmer, Makenzie L.; Gaedigk, Andrea; Hachad, Houda; Ji, Yuan; Kalman, Lisa V.; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; van Schaik, R. H. N.; Whirl-Carrillo, Michelle; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    The goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This article provides recommendations for a minimum panel of variant alleles (Tier 1) and an extended panel of variant alleles (Tier 2) that will aid clinical laboratories when designing assays for PGx testing. The Association for Molecular Pathology PGx Working Group considered the functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations. The ultimate goal of this Working Group is to promote standardization of PGx gene/allele testing across clinical laboratories. This article focuses on clinical TPMT and NUDT15 PGx testing, which may be applied to all thiopurine S-methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15)–related medications. These recommendations are not to be interpreted as prescriptive, but to provide a reference guide.