Best Practices for Reporting Pharmacogenomics Studies: A PharmGKB Perspective
This review from PharmGKB examines what makes pharmacogenomic study publications maximally useful, covering study framing, variant nomenclature, phenotype definitions, and data reporting standards. Clear and reproducible reporting accelerates knowledge curation and guideline development. For laboratory professionals designing or interpreting PGx assays, the paper provides a checklist of essential reporting elements that support downstream clinical translation.
The original study
Essential Characteristics of Pharmacogenomics Study Publications.
- Authors
- Thorn CF, Whirl-Carrillo M, Hachad H, Johnson JA, McDonagh EM, Ratain MJ, et al.
- Journal
- Clinical pharmacology and therapeutics
- Type
- Journal Article, Research Support, N.I.H., Extramural, Review
- PMID
- 30406943
Original 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.