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Clin Genet. 2017 Apr;91(4):545-556. doi: 10.1111/cge.12820. Epub 2016 Jul 28.

EMR documentation of physician-patient communication following genomic counseling for actionable complex disease and pharmacogenomic results.

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Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH, USA.
Coriell Personalized Medicine Collaborative, Coriell Institute for Medical Research, Camden, NJ, USA.
School of Communication, Ohio State University, Columbus, OH, USA.
Department of Biomedical Informatics, Center for Biostatistics, Columbus, OH, USA.
Geisinger Health System, Genomic Medicine Institute, Precision Health Center, Forty Fort, PA, USA.
Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.
Department of Biology, Temple University, Philadelphia, PA, USA.
Department of Health Behaviour & Health Education, University of Michigan School of Public Health, Ann Arbor, MI, USA.


Genomic risk information for potentially actionable complex diseases and pharmacogenomics communicated through genomic counseling (GC) may motivate physicians and patients to take preventive actions. The Ohio State University-Coriell Personalized Medicine Collaborative is a randomized trial to measure the effects of in-person GC on chronic disease patients provided with multiplex results. Nine personalized genomic risk reports were provided to patients through a web portal, and to physicians via electronic medical record (EMR). Active arm participants (98, 39% female) received GC within 1 month of report viewing; control arm subjects (101, 54% female) could access counseling 3-months post-report viewing. We examined whether GC affected documentation of physician-patient communication by reviewing the first clinical note following the patient's GC visit or report upload to the EMR. Multivariable logistic regression modeling estimated the independent effect of GC on physician-patient communication, as intention to treat (ITT) and per protocol (PP), adjusted for physician educational intervention. Counselees in the active arm had more physician-patient communications than control subjects [ITT, odds ratio (OR): 3.76 (95% confidence interval (CI): 1.38-10.22, p < 0.0094); PP, OR: 5.53 (95% CI: 2.20-13.90, p = 0.0017). In conclusion, GC appreciably affected physician-patient communication following receipt of potentially actionable genomic risk information.


complex disease; counseling; electronic medical record; genetic; genomic; pharmacogenomics; physician-patient communication

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