Evidence map›Paper›PMID 31647186›Full record

ArticleClinical and translational science2020

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.

Kelly E Caudle, Katrin Sangkuhl, Michelle Whirl-Carrillo, Jesse J Swen, Cyrine E Haidar, Teri E Klein, Roseann S Gammal, Mary V Relling, Stuart A Scott, Daniel L Hertz and 2 more

Registry-linked trialAbstract readConsensus Statement
In one paragraph

Article in Clinical and translational science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06700967 (A Precision Medication Guidance Model for Schizophrenia Based on Pharmacogenomics and Physiologically Based Pharmacokinetics), which is not on this map. Cited by 319 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
319citing papers in PubMed, 14 pooled it
–field-weighted citation impact
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.

NCT06700967 not yet recruitingnot on this mapstarted 2024, after this paper: background citation

A Precision Medication Guidance Model for Schizophrenia Based on Pharmacogenomics and Physiologically Based Pharmacokinetics: a Real-World Observational Study

TypeobservationalSponsorShanghai Mental Health CenterRan2024 to 2025Enrolled400ConditionsSchizophenia Disorder
3 · Its place in the literature

Who cites it

319 citing papers in PubMed, 14 syntheses or guidelines pooled it.

  1. Guideline
  2. Pooled it
  3. Guideline
  4. CYP2D6 Phenotype and Breast Cancer Outcomes: A Bias Analysis and Meta-Analysis.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
    Pooled it
  5. CYP2D6 genotype and associated 5-HTClinical and translational science · 2025
    Pooled it
  6. Pooled it
  7. Guideline
  8. Pooled it
  9. Pooled it
  10. Guideline
  11. Guideline
  12. Guideline
  13. Pooled it
  14. Guideline
  15. Acute effects of MDMA, MDA, lysine-MDMA, and lysine-MDA in a randomized, double-blind, placebo-controlled, crossover trial in healthy participants.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Trial
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  20. Trial

259 more citing papers are in PubMed but not listed here.

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

12 authors.

Kelly E CaudleDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Jesse J SwenDepartment of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
Cyrine E HaidarDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Roseann S GammalDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Mary V RellingDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Stuart A ScottDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Daniel L HertzDepartment of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, Michigan, USA.
Henk-Jan GuchelaarDepartment of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
Andrea GaedigkDivision of Clinical Pharmacology, Toxicology, & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri, USA.

Funding

PharmGKB: pharmacogenomics knowledge for precision medicineR24GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO, KLEIN, TERI ELLEN · 2010 to 2018
$25.2M
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
Clinical Pharmacogenetics Implementation Consortium (CPIC)R24GM115264 · NIGMS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI KLEIN, TERI ELLEN, RELLING, MARY V · 2015 to 2017
$3.6M
PHARMacogene VARiation ConsortiumR24GM123930 · NIGMS · CHILDREN'S MERCY HOSP (KANSAS CITY, MO) · PI GAEDIGK, ANDREA · 2017 to 2020
$1.9M
NHGRI NIH HHS U24 HG010135NIGMS NIH HHS R24 GM061374NIGMS NIH HHS R24 GM115264NIGMS NIH HHS R24 GM123930
6 · The paper itself

Abstract

Translating CYP2D6 genotype to metabolizer phenotype is not standardized across clinical laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines, such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG). The genotype to phenotype translation discordance between laboratories and guidelines can cause discordant cytochrome P450 2D6 (CYP2D6) phenotype assignments and, thus lead to inconsistent therapeutic recommendations and confusion among patients and clinicians. A modified-Delphi method was used to obtain consensus for a uniform system for translating CYP2D6 genotype to phenotype among a panel of international CYP2D6 experts. Experts with diverse involvement in CYP2D6 interpretation (clinicians, researchers, genetic testing laboratorians, and PGx implementers; n = 37) participated in conference calls and surveys. After completion of 7 surveys, a consensus (> 70%) was reached with 82% of the CYP2D6 experts agreeing to the final CYP2D6 genotype to phenotype translation method. Broad adoption of the proposed CYP2D6 genotype to phenotype translation method by guideline developers, such as CPIC and DPWG, and clinical laboratories as well as researchers will result in more consistent interpretation of CYP2D6 genotype.

Indexed as

AllelesCytochrome P-450 CYP2D6Delphi TechniqueDNA Copy Number VariationsGenetic Association StudiesHumansNetherlandsPharmacogenomic TestingPolymorphism, Single-Stranded ConformationalSurveys and QuestionnairesCytochrome P-450 CYP2D6

Identifiers

PMID31647186
PMCPMC6951851

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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 OpenQuestion graph.