Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics



Pharmacogenomic biomarkers are increasingly listed on medication labels and authoritative guidelines but pharmacogenomic-guided prescribing is not yet common. Our objective was to assess the potential for incorporating knowledge of patients’ genomic characteristics into prescribing practices.


We performed a retrospective analysis of claims data for 2,096,971 beneficiaries with pharmacy coverage from a national, commercial health insurance plan between January 2017 and December 2019. Children between 0 and 17 years comprised 21% of the cohort. Adults were age 18 to 64. Medications with actionable pharmacogenomic biomarkers (MAPBs) were identified using public information from the US Food and Drug Administration (FDA), Clinical Pharmacogenomics Implementation Consortium (CPIC), and PharmGKB.


MAPBs were dispensed to 63% of the adults and 29% of the children in the cohort. Most frequently dispensed were ibuprofen, ondansetron, codeine, and oxycodone. Most common were medications with CYP2D6, G6PD, or CYPC19 pharmacogenomic biomarkers. Ten percent of the cohort were codispensed more than one MAPB for at least 30 days.


The number of people who might benefit from pharmacogenomic-guided prescribing is substantial. Future work should address obstacles to integrating genomic data into prescriber workflows, complex factors contributing to the magnitude of benefit, and the clinical availability of reliable on-demand or pre-emptive pharmacogenomic testing.

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Data availability

Raw data for this study were pharmacy claims and membership and enrollment information from a private insurer. The Data Use Agreement does not allow the investigators to share these beneficiary level data. The supplementary materials contain counts derived from the raw data files. In particular, Supplementary Table 2 has counts of the number of enrollees who were dispensed each MAPB by age group and for the whole cohort.


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This study was supported by a postdoctoral fellowship from Aetna (D.L.), funding from the Boston Children’s Hospital PrecisionLink Initiative, and by cooperative agreement U01TR002623 from the National Center for Advancing Translational Sciences (NCATS)/National Institutes of Health (NIH) and R01GM104303 from The National Institute of General Medical Sciences (NIGMS), NIH. None of the funding organizations influenced the design of the study, or the collection, analysis, or interpretation of the data.

Author information




Conceptualization: K.D.M. Methodology D.L., K.L.O. Data curation: S.F.M., D.L., K.L.O. Formal analysis: D.L., K.L.O. Writing: D.L., K.L.O., S.F.M., K.D.M.

Corresponding author

Correspondence to Kenneth D. Mandl MD, MPH.

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Ethics declaration

Boston Children’s Hospital Institutional Review Board approved waiving consent for this study. Risks were determined to be minimal with no potential for direct benefit. Aetna gave approval for the manuscript submission, confirming that no beneficiaries were identifiable.

Competing interests

S.F.M. is a Scientific Advisory Board member at Global Gene, Inc. Quest Diagnostics sponsors research for and contributes philanthropy for K.D.M.’s research program at Boston Children’s Hospital. The other authors declare no competing interests.

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Liu, D., Olson, K.L., Manzi, S.F. et al. Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics. Genet Med (2021).

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