An Overview of Genomic Biomarker Use in Cardiovascular Disease Clinical Trials

Clin Pharmacol Ther. 2019 Oct;106(4):841-846. doi: 10.1002/cpt.1473. Epub 2019 Jun 20.


Clinical trial designs targeting patient subgroups with certain genetic characteristics may enhance the efficiency of developing drugs for cardiovascular disease (CVD). To evaluate the extent to which genetic knowledge translates to the CVD pipeline, we analyzed how genomic biomarkers are utilized in trials. Phase II and III trial protocols for investigational new drugs for CVD and risk factors were evaluated for prospective and exploratory genomic biomarker use; drug targets were evaluated for the presence of evidence that genetic variations can impact CVD risk or drug response. We identified 134 programs (73 unique drug targets) and 147 clinical trials. Less than 1% (n = 1/147) trials used a genomic biomarker prospectively for in-trial enrichment despite 32% (n = 23/73) of the drug targets having evidence of genetic variations. Additionally, 46% (n = 68/147) of the trials specified exploratory biomarker use. The results highlight an opportunity for more targeted CVD drug development by leveraging genomic biomarker knowledge.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cardiovascular Agents / pharmacology*
  • Cardiovascular Diseases* / drug therapy
  • Cardiovascular Diseases* / genetics
  • Clinical Trials as Topic
  • Genetic Markers*
  • Humans
  • Pharmacogenomic Testing / methods*
  • Procedures and Techniques Utilization
  • Risk Adjustment / methods
  • Translational Research, Biomedical


  • Cardiovascular Agents
  • Genetic Markers