Evidence map›Paper›PMID 37669183›Full record

ReviewClinical pharmacology and therapeutics2023

PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.

Amy J Turner, Charity Nofziger, Bronwyn E Ramey, Reynold C Ly, Chad A Bousman, José A G Agúndez, Katrin Sangkuhl, Michelle Whirl-Carrillo, Simone Vanoni, Henry M Dunnenberger and 7 more

Open access · bronzeAbstract readReview
In one paragraph

Review in Clinical pharmacology and therapeutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 4 pooled it
11.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

31 citing papers in PubMed, 4 syntheses or guidelines pooled it, 45 citations in OpenAlex.

  1. Guideline
  2. Guideline
  3. A systematic review of real-world evidence on the clinical relevance, characterization, and utility ofJournal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques · 2025
    Pooled it
  4. Guideline
  5. Review
  6. PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.Clinical pharmacology and therapeutics · 2026
    Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025
    Article
  17. Review
  18. Article
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 13 institutions in 5 countries.

Amy J TurnerDepartment of Pediatrics, Children's Research Institute, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA.ORCID 0000-0003-0867-7545
Charity NofzigerPharmGenetix GmbH, Niederalm, Austria.ORCID 0000-0002-7550-2633
Bronwyn E RameyLet's Get Checked, New York, New York, USA.ORCID 0000-0002-4483-1530
Reynold C LyDivision of Diagnostic Genomics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0002-3016-6859
Chad A BousmanDepartment of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.ORCID 0000-0001-6303-8696
José A G AgúndezUniversity of Extremadura, Cáceres, Spain.ORCID 0000-0001-6895-9160
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0001-7880-5843
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0003-2414-9312
Simone VanoniPharmGenetix GmbH, Niederalm, Austria.ORCID 0000-0002-4464-2959
Henry M DunnenbergerMark R. Neaman Center for Personalized Medicine, NorthShore University Health System, Evanston, Illinois, USA.ORCID 0000-0002-6211-1713
Gualberto RuañoInstitute of Living, Hartford Hospital, Hartford, Connecticut, USA.ORCID 0000-0002-5348-4702
Martin A KennedyDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.ORCID 0000-0002-6445-8526
Michael S PhillipsPrecision Medicine Advisers, Montreal, Quebec, Canada.ORCID 0000-0002-3688-9601
Houda HachadDepartment of Clinical Operations, AccessDx Laboratories, Houston, Texas, USA.ORCID 0000-0001-9953-6398
Teri E KleinDepartment of Biomedical Data Science and Medicine (BMIR), Stanford University, Stanford, California, USA.ORCID 0000-0001-5527-6475
Ann M MoyerDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0003-2590-7218
Andrea GaedigkChildren's Mercy Research Institute (CMRI), Kansas City, Missouri, USA.ORCID 0000-0001-6968-1893
Stanford University · USCheck Point (Israel) · ILChildren's Hospital of Wisconsin · USCore Laboratories (United States) · USHartford Hospital · USIndiana University School of MedicineMayo Clinic · USMD Precision (Canada) · CAMercy Research · USNorthShore University HealthSystem · USUniversidad de Extremadura · ESUniversity of Calgary · CAUniversity of Otago · NZ

Funding

PharmGKB: pharmacogenomics discovery and implementationU24HG010615 · NHGRI · STANFORD UNIVERSITY · PI TERI Ellen KLEIN, Michelle Whirl-Carrillo · 2020 to 2026
$9.5M
Clinical Pharmacogenetics Implementation Consortium (CPIC)U24HG010135 · NHGRI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CAUDLE, KELLY E., KLEIN, TERI ELLEN · 2018 to 2022
$5.4M
NHGRI NIH HHS U24 HG010135NHGRI NIH HHS U24 HG010615NIH HHS U24HG010135NIH HHS U24 HG010615
6 · The paper itself

Abstract

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.

Indexed as

Cytochrome P-450 CYP2D6AllelesGenotypeHumansPhenotypeCytochrome P-450 CYP2D6

Identifiers

PMID37669183
PMCPMC10840842
OpenAlexW4386462042

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.