Documentation of medical decision-making for genetic testing in the health record. M. T. Scheuner1,2, J. Peredo1, T. J. Sale1, B. T. Tran1, A. T. Jones1, A. B. Hamilton1,3, L. Hilborne4,5, I. M. Lubin6 1) VA Greater Los Angeles Healthcare System, Los Angeles, California; 2) Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, Califonria; 3) Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine at UCLA, los Angeles, California; 4) Quest Diagnostics, West Hills, California; 5) Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California; 6) Division of Laboratory Sciences and Standards, Centers for Disease Control and Prevention, Atlanta, Georgia.
Objective: Errors in the genetic testing process most likely occur in the pre-analytic (ordering) and post-analytic (results interpretation) phases. We assessed documentation of medical decision-making for relatively common genetic tests (cystic fibrosis, HLA-B27, hemochromatosis, and thrombophilia). Methods: Health records were selected from 122 patients who had a genetic test of interest ordered by a non-geneticist (Apr-Sep 2011). Each record included progress notes from a 6-month period prior to and after the test collection date. Outcomes abstracted from the records included documentation of four pre-analytic (indication for testing, test name, relevant family history, and informed consent) and three post-analytic outcomes (test result, implications of the result, and management recommendations). Results: Mean age of patients was 50.5 years (SD 16.3), 36.1% were white, and 83.6% were male. Documentation of test indication was found in 98.4% of records, test name in 87.7%, family history in 52.4%, and informed consent in only 31.1%. Abnormal results were found in 18.0% of records. Documentation of the result was found in only 49.2%; more often when abnormal, 86% vs. 40%. Management recommendations were found in 50%, usually limited to the condition of concern and rarely specific to the result. Management was documented for abnormal results twice as often than normal results, 86% vs. 41%. Only 1 of 9 records had documentation of the implications of the result with respect to diagnosis, disease and reproductive risks, or the validity and limitations of the testing. Implications were only documented for a subset of abnormal results. Conclusions: Medical decision-making relating to genetic testing was documented more often for the pre-analytic than post-analytic outcomes. Family history was often lacking, which could compromise appropriate test selection and accurate interpretation of results. Documentation of informed consent was found in a minority of records, suggesting this may not be viewed as necessary by most clinicians. Lack of documentation of normal results and their implications raise concerns that clinicians may not recognize the limitations of the testing performed. There is a need for education and clinical decision support designed to improve clinician behavior and documentation during the pre- and post-analytic phases of genetic testing, which could result in improved utilization of genetic testing resources and health outcomes.
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