Pharmacogenomic Testing: Strategies and Technical Considerations for Clinical Laboratories.

* Context.--Clinical laboratories are increasingly implementing pharmacogenomic (PGx) testing. Although PGx is similar to genetic testing for other indications, there are unique aspects that laboratories should consider. Objective.--To aid clinical laboratories that are implementing clinical PGx tes...

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Publicado en:Archives of Pathology & Laboratory Medicine Vol. 150; no. 5; pp. 339 - 354
Autores principales: Ji, Yuan, Brunk, Lindsey, Bove, Betsy, Danyal, Karamatullah, Langman, Loralie J., Mot, Nicole, Mroz, Pawel, Natowicz, Marvin, Reddi, Honey, Shirts, Brian, Smock, Kristi, Wool, Geoffrey D., Zhang, Bing Melody, Moyer, Ann M.
Formato: tables/charts Journal Article
Publicado: College of American Pathologists May2026
Acceso en línea:Ver este registro en EBSCOhost
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      dt: May2026
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        atl: Pharmacogenomic Testing: Strategies and Technical Considerations for Clinical Laboratories.
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          Ji, Yuan
          Brunk, Lindsey
          Bove, Betsy
          Danyal, Karamatullah
          Langman, Loralie J.
          Mot, Nicole
          Mroz, Pawel
          Natowicz, Marvin
          Reddi, Honey
          Shirts, Brian
          Smock, Kristi
          Wool, Geoffrey D.
          Zhang, Bing Melody
          Moyer, Ann M.
        affil: Division of Clinical Pathology, Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City
      sug:
        subj:
          Pharmacogenetics
          Clinical Laboratories
          Quality Improvement
          Program Implementation
          Genetic Screening
          Rules and Regulations
          Nomenclature
          Reference Values
          Alleles
          Translations
          Genotype
          Phenotype
      ab: * Context.--Clinical laboratories are increasingly implementing pharmacogenomic (PGx) testing. Although PGx is similar to genetic testing for other indications, there are unique aspects that laboratories should consider. Objective.--To aid clinical laboratories that are implementing clinical PGx testing by describing characteristics of PGx test design and validation, as well as approaches to reporting. Resources that are useful for clinical laboratories performing PGx testing will be highlighted. Design.--The College of American Pathologists formed a workgroup composed of laboratorians with expertise in clinical PGx testing. The workgroup included representatives from the Association for Molecular Pathology and the American College of Medical Genetics and Genomics. The workgroup reviewed pertinent literature, as well as experience from proficiency testing and from members' laboratories. Results.--The workgroup recommends that laboratories implementing PGx consider the following concepts: testing platform, test design (ie, selection of pharmacogenes and variants/alleles), use of reference materials during test development and as controls during clinical runs, star allele and standard nomenclature systems, translations from genotype to predicted phenotype, and considerations for result reporting including making medication recommendations. The workgroup provides considerations when using report vendors, emphasizing the clinical laboratory's role and responsibility when implementing such reporting tools from vendors. Conclusions.--Clinical laboratories should be familiar with the fundamentals of PGx, ensure that PGx testing meets the applicable regulatory requirements for all aspects of the clinical laboratory testing process, and follow recommendations for standardization of nomenclature and reporting.
      pubtype: Academic Journal
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      ougenre: Article
    language: English
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