Clinical evidence supporting pharmacogenomic biomarker testing provided in US Food and Drug Administration drug labels

JAMA Intern Med. 2014 Dec;174(12):1938-44. doi: 10.1001/jamainternmed.2014.5266.


Importance: Genetic biomarkers that predict a drug's efficacy or likelihood of toxicity are assuming increasingly important roles in the personalization of pharmacotherapy, but concern exists that evidence that links use of some biomarkers to clinical benefit is insufficient. Nevertheless, information about the use of biomarkers appears in the labels of many prescription drugs, which may add confusion to the clinical decision-making process.

Objective: To evaluate the evidence that supports pharmacogenomic biomarker testing in drug labels and how frequently testing is recommended.

Data sources: Publicly available US Food and Drug Administration databases.

Main outcomes and measures: We identified drug labels that described the use of a biomarker and evaluated whether the label contained or referenced convincing evidence of its clinical validity (ie, the ability to predict phenotype) and clinical utility (ie, the ability to improve clinical outcomes) using guidelines published by the Evaluation of Genomic Applications in Practice and Prevention Working Group. We graded the completeness of the citation of supporting studies and determined whether the label recommended incorporation of biomarker test results in therapeutic decision making.

Results: Of the 119 drug-biomarker combinations, only 43 (36.1%) had labels that provided convincing clinical validity evidence, whereas 18 (15.1%) provided convincing evidence of clinical utility. Sixty-one labels (51.3%) made recommendations about how clinical decisions should be based on the results of a biomarker test; 36 (30.3%) of these contained convincing clinical utility data. A full description of supporting studies was included in 13 labels (10.9%).

Conclusions and relevance: Fewer than one-sixth of drug labels contained or referenced convincing evidence of clinical utility of biomarker testing, whereas more than half made recommendations based on biomarker test results. It may be premature to include biomarker testing recommendations in drug labels when convincing data that link testing to patient outcomes do not exist.

MeSH terms

  • Biomarkers*
  • Databases, Factual
  • Drug Labeling / standards*
  • Evidence-Based Medicine
  • Genetic Testing*
  • Humans
  • Pharmacogenetics*
  • Prescription Drugs / standards*
  • Reproducibility of Results
  • United States
  • United States Food and Drug Administration


  • Biomarkers
  • Prescription Drugs