Curators' Favorite Papers

The first paper (Implementation of Standardized Clinical Processes for TPMT Testing in a Diverse Multidisciplinary Population: Challenges and Lessons Learned) describes the process of implementing systemwide thiopurine methyltransferase (TPMT) testing at the University of Florida Health Personalized Medicine Program (UF PMP). After the successful implementation of CYP2C19 testing for patients undergoing percutaneous coronary intervention in an inpatient setting, researchers opted to analyze test ordering patterns for TPMT in a large and more diverse group of patients. Pharamacogenetic (PGx) test results were incorporated into Electronic Health Records (EHR) using Clinical Pharmacogenetic Implementation Consortium (CPIC) guidelines. Data came over a period of three years from 834 patients for whom TPMT testing was ordered (February 2014 to February 2017). In general, enzymatic testing was ordered far more frequently than genetic testing (83% vs. 17%) and rates differed significantly (P< 0.0001) between outpatient (580) and inpatient orders (293). Significant differences were discovered between specialties with regards to TPMT test orders - for example,  hematology/oncology service providers ordered genotype testing more frequently in the inpatient setting (95% of tests from hematology/oncology vs. 60% of tests from other specialties; P< 0.0001). The study also discusses differences in testing between populations and breaks down test alert notification preferences by specialties in detail. You may find more information on TPMT, azathioprine, thioguanine,  or mercaptopurine on PharmGKB and PGx-guided dosing guidelines on PharmGKB or

The second paper (Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project) examines patient-subject understanding of informed consent, satisfaction with disclosure of results, and perception of whole genome sequencing utility (WGS) in cardiology and primary care patients. Patient-subjects were recruited by their cardiologists (already diagnosed with hypertrophic cardiomyopathy or dilated cardiomyopathy) or primary care physicians (PCP) (healthy adults) and were randomized to give family health history (FH) alone or undergo WGS too (FH + WGS). Results were discussed with their respective physicians, who had been counseled in genetics. A majority of subjects (N = 203) were White, non-Hispanic, had completed college and had annual household incomes of over $100K. Most subjects were able to adequately describe the study and demonstrated high genetics and health literacy, as well as an understanding of informed consent and experienced a high level of satisfaction. However, some differences emerged between the FH and the FH + WGS groups: subjects in the FH + WGS group were more likely to report feeling that they had received too much information, and subjects in the FH group reported less satisfaction and more decisional regret than the FH + WGS group. The authors suspect that FH subjects may have been disappointed at not having been randomized to receive WGS results. The primary care group was also more likely to feel that they had received too much information relative to the cardiology group. The authors note that the results are encouraging but suggest that similar efforts in future studies should aim to temper subjects’ expectations regarding WGS and that studies in more diverse cohorts will be necessary.

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