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Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort
  1. Jay G Ronquillo1,2,
  2. William T Lester3,4
  1. 1 Center for Biomedical Informatics and Information Technology, National Cancer Institute, Rockville, Maryland, USA
  2. 2 Office of Data Science Strategy, National Institutes of Health, Bethesda, Maryland, USA
  3. 3 Laboratory of Computer Science, Massachusetts General Hospital, Boston, Massachusetts, USA
  4. 4 Harvard Medical School, Boston, Massachusetts, USA
  1. Correspondence to Dr Jay G Ronquillo; jay.ronquillo{at}


Population databases could help patients with cancer and providers better understand current pharmacogenomic prescribing and testing practices. This retrospective observational study analysed patients with cancer, drugs with pharmacogenomic evidence and related genetic testing in the National Institutes of Health All of Us database. Most patients with cancer (19 633 (88.3%) vs 2590 (11.7%)) received ≥1 drug and 36 (0.2%) received genetic testing, with a significant association between receiving ≥1 drug and age group (p<0.001), but not sex (p=0.612), race (p=0.232) or ethnicity (p=0.971). Drugs with pharmacogenomic evidence—but not genetic testing—were common for patients with cancer, reflecting key gaps preventing precision medicine from becoming standard of care.

  • pharmacogenomic testing
  • information science

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  • Contributors All authors included in the manuscript provided substantial contribution to (1) conception and design, acquisition of data, or analysis and interpretation of data, (2) drafting the article or revising it critically for important intellectual content, and (3) final approval of the completed manuscript. JGR had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

  • Funding This work was supported by general cloud credits via the National Institutes of Health (NIH) Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability (STRIDES) Initiative; and the National Cancer Institute (NCI) Cancer Research Data Commons Cloud Resources. The All of Us Research Program is supported by the National Institutes of Health, Office of the Director: Regional Medical Centers: 1 OT2 OD026549; 1 OT2 OD026554; 1 OT2 OD026557; 1 OT2 OD026556; 1 OT2 OD026550; 1 OT2 OD 026552; 1 OT2 OD026553; 1 OT2 OD026548; 1 OT2 OD026551; 1 OT2 OD026555; IAA number: AOD 16037; Federally Qualified Health Centers: HHSN 263201600085U; Data and Research Center: 5 U2C OD023196; Biobank: 1 U24 OD023121; The Participant Center: U24 OD023176; Participant Technology Systems Center: 1 U24 OD023163; Communications and Engagement: 3 OT2 OD023205; 3 OT2 OD023206; and Community Partners: 1 OT2 OD025277; 3 OT2 OD025315; 1 OT2 OD025337; 1 OT2 OD025276. In addition, the All of Us Research Program would not be possible without the partnership of its participants.

  • Disclaimer The funder had no role in the design of the study; the collection, analysis and interpretation of the data; the writing of the manuscript; and the decision to submit the manuscript for publication.

  • Competing interests JGR reported being the developer and owner (via company grinformatics) of several precision medicine mobile health iPhone apps on the App Store that are unrelated to the current work.

  • Provenance and peer review Not commissioned; externally peer reviewed.