Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Jan;105(1):86-91.
doi: 10.1002/cpt.1279.

Essential Characteristics of Pharmacogenomics Study Publications

Caroline F Thorn  1 , Michelle Whirl-Carrillo  1 , Houda Hachad  2 , Julie A Johnson  3 , Ellen M McDonagh  4 , Mark J Ratain  5 , Mary V Relling  6 , Stuart A Scott  7   8 , Russ B Altman  9   10 , Teri E Klein  1
Affiliations
Review

Essential Characteristics of Pharmacogenomics Study Publications

Caroline F Thorn et al. Clin Pharmacol Ther. 2019 Jan.

Abstract

Pharmacogenomics (PGx) can be seen as a model for biomedical studies: it includes all disease areas of interest and spans in vitro studies to clinical trials, while focusing on the relationships between genes and drugs and the resulting phenotypes. This review will examine different characteristics of PGx study publications and provide examples of excellence in framing PGx questions and reporting their resulting data in a way that maximizes the knowledge that can be built on them.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest:

RBA is a stockholder in Personalis Inc. and 23andMe, and a paid advisor for Youscript. MJR is a coinventor on a pending patent application for a genomic prescribing system. SAS is a paid employee of Sema4. HH is a paid employee and stockholder in Translational Software.

Figures

Figure 1.
Figure 1.. Checklist for Authors of a PGx study
See this image and copyright information in PMC

References

    1. Yang SK, Hong M, Baek J, Choi H, Zhao W, Jung Y, et al. A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia. Nat Genet. 2014. September;46(9):1017–20. PubMed PMID: PMCID: PMC4999337. - PMC - PubMed
    1. Yang JJ, Landier W, Yang W, Liu C, Hageman L, Cheng C, et al. Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia. J Clin Oncol. 2015. April 10;33(11):1235–42. PubMed PMID: PMCID: PMC4375304. - PMC - PubMed
    1. Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther. 2012. October;92(4):414–7. PubMed PMID: PMCID: PMC3660037. - PMC - PubMed
    1. Percha B, Altman RB. Learning the Structure of Biomedical Relationships from Unstructured Text. PLoS Comput Biol. 2015. July;11(7):e1004216 PubMed PMID: PMCID: PMC4517797. - PMC - PubMed
    1. Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, et al. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017. October;19(10):1096–104. PubMed PMID: PMCID: PMC5600649. - PMC - PubMed

Publication types

MeSH terms