Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases

Ye Zhu, Kristi M. Swanson, Ricardo L. Rojas, Zhen Wang, Jennifer L. St. Sauver, Sue L. Visscher, Larry J. Prokop, Suzette J. Bielinski, Liewei Wang, Richard Weinshilboum, Bijan J. Borah

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations


Purpose: To examine the evidence on the cost-effectiveness of implementing pharmacogenomics (PGx) in cardiovascular disease (CVD) care. Methods: We conducted a systematic review using multiple databases from inception to 2018. The titles and abstracts of cost-effectiveness studies on PGx-guided treatment in CVD care were screened, and full texts were extracted. Results: We screened 909 studies and included 46 to synthesize. Acute coronary syndrome and atrial fibrillation were the predominantly studied conditions (59%). Most studies (78%) examined warfarin–CYP2C9/VKORC1 or clopidogrel–CYP2C19. A payer’s perspective was commonly used (39%) for cost calculations, and most studies (46%) were US-based. The majority (67%) of the studies found PGx testing to be cost-effective in CVD care, but cost-effectiveness varied across drugs and conditions. Two studies examined PGx panel testing, of which one examined pre-emptive testing strategies. Conclusion: We found mixed evidence on the cost-effectiveness of PGx in CVD care. Supportive evidence exists for clopidogrel–CYP2C19 and warfarin–CYP2C9/VKORC1, but evidence is limited in other drug–gene combinations. Gaps persist, including unclear explanation of perspective and cost inputs, underreporting of study design elements critical to economic evaluations, and limited examination of PGx panel and pre-emptive testing for their cost-effectiveness. This review identifies the need for further research on economic evaluations of PGx implementation.

Original languageEnglish (US)
Pages (from-to)475-486
Number of pages12
JournalGenetics in Medicine
Issue number3
StatePublished - Mar 1 2020


  • cardiovascular disease
  • cost-effectiveness
  • disease management
  • economic evaluation
  • pharmacogenomics

ASJC Scopus subject areas

  • Genetics(clinical)


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