Evidence map›Paper›PMID 35931343›Full record

ReviewThe Journal of molecular diagnostics : JMD2022

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.

Victoria M Pratt, Larisa H Cavallari, Makenzie L Fulmer, Andrea Gaedigk, Houda Hachad, Yuan Ji, Lisa V Kalman, Reynold C Ly, Ann M Moyer, Stuart A Scott and 3 more

Open access · greenAbstract readReviewConsensus Statement
In one paragraph

Review in The Journal of molecular diagnostics : JMD, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 5 pooled it
13.0field-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

42 citing papers in PubMed, 5 syntheses or guidelines pooled it, 71 citations in OpenAlex.

  1. Guideline
  2. Guideline
  3. Pooled it
  4. Guideline
  5. Saudi consensus guidance for the diagnosis and management of inflammatory bowel disease in children and adolescents.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association · 2025
    Guideline
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  20. The history and future of pharmacogenetics in Aotearoa/New Zealand.Journal of the Royal Society of New Zealand · 2025
    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

13 authors at 11 institutions in 3 countries.

Victoria M PrattThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address: victoria.pratt@optum.com.
Larisa H CavallariThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Center for Pharmacogenomics and Precision Medicine, Department of Pharmacotherapy and Translational Research, University of Florida, Gainesville, Florida.
Makenzie L FulmerThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah.
Andrea GaedigkThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children's Mercy Kansas City, School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri.
Houda HachadThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Clinical Operations, AccessDx, Houston, Texas.
Yuan JiThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah.
Lisa V KalmanThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia.
Reynold C LyThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Ann M MoyerThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Stuart A ScottThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Pathology, Stanford University, Stanford, California; Clinical Genomics Laboratory, Stanford Health Care, Palo Alto, California.
R H N van SchaikThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Clinical Chemistry/International Federation of Clinical Chemistry and Laboratory Medicine Expert Center Pharmacogenetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands; European Society of Pharmacogenomics and Personalized Therapy (ESPT), Milan, Italy; Dutch Pharmacogenetics Working Group (DPWG), The Hague, the Netherlands.
Michelle Whirl-CarrilloThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Biomedical Data Science, Stanford University, Stanford, California.
Karen E WeckThe Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee, Association for Molecular Pathology (AMP), Rockville, Maryland; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina.
Indiana Spine Group · USUniversity of Utah · USCenters for Disease Control and Prevention · USDiagnostics Research Group · USErasmus MC · NLMayo Clinic · USStanford Health Care · USStanford University · USUniversity of Florida · USUniversity of Missouri–Kansas City · USUniversity of North Carolina at Chapel Hill · US

Funding

Using social networks to map and evaluate team science across CTSA hubsUL1TR001427 · NCATS · UNIVERSITY OF FLORIDA · PI MITCHELL, DUANE A. · 2015 to 2024
$37.2M
North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7M
Sparking Advancements in Genomic MedicineU01HG007269 · NHGRI · UNIVERSITY OF FLORIDA · PI CAVALLARI, LARISA HUMMA, JOHNSON, JULIE A. · 2013 to 2024
$17.0M
Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective EvaluationR01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, Vaidehi Jobanputra · 2007 to 2026
$16.5M
PharmGKB: pharmacogenomics discovery and implementationU24HG010615 · NHGRI · STANFORD UNIVERSITY · PI TERI Ellen KLEIN, Michelle Whirl-Carrillo · 2020 to 2026
$9.5M
Implementing genomic medicine through pragmatic trials in diverse and underserved populations across Indiana.U01HG010245 · NHGRI · INDIANA UNIVERSITY INDIANAPOLIS · PI DEXTER, PAUL, SKAAR, TODD C. · 2018 to 2024
$9.4M
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
NCATS NIH HHS UL1 TR001427NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG007269NHGRI NIH HHS U01 HG010245NHGRI NIH HHS U24 HG010135NHGRI NIH HHS U24 HG010615NICHD NIH HHS R01 HD055651
6 · The paper itself

Abstract

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.

Indexed as

Pathology, MolecularPharmacogeneticsGenotypeHumansKnowledge BasesMethyltransferasesNudix HydrolasesPathologistsPharmacistsPyrophosphatasesMethyltransferasesNudix HydrolasesNUDT15 protein, humanPyrophosphatasesthiopurine methyltransferase

Identifiers

PMID35931343
PMCPMC9808500
OpenAlexW4289525431

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.