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J Thromb Haemost. 2016 May;14(5):982-6. doi: 10.1111/jth.13284. Epub 2016 Mar 23.

Clinical adherence to thrombophilia screening guidelines at a major tertiary care hospital.

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Weill Cornell Medical College, New York, NY, USA.
Departments of Pathology and Laboratory Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Division of Hematology-Oncology, Weill Cornell Medical College, New York, NY, USA.


Essentials Thrombophilia screening has significantly increased but has limited clinical utility. We evaluated the positive rate of thrombophilia screening and adherence to published guidelines. Both the positive rate for thrombophilia screening and the adherence to guidelines were low. Guidance implementation is essential to improve current thrombophilia screening practice.


Background Thrombophilia screening is widely performed but provides limited clinical utility in managing patients predisposed to venous thromboembolism. Although guidelines to limit testing have been published, adherence to those guidelines in the outpatient clinical setting has not been assessed. Objective To evaluate outpatient thrombophilia screening practices at a tertiary academic medical center. Methods We performed a retrospective review of the electronic medical records and a computational analysis of thrombophilia tests collected during a 3-year period (August 2010 to June 2013) at a large teaching hospital. Our primary outcome measures were positive diagnostic yield for thrombophilia and clinician adherence to published thrombophilia screening guidelines in the outpatient setting. Results and Conclusions We found a positive diagnostic yield of 13.8% (95% confidence interval 12.3% to 15.3%) for outpatient thrombophilia screening at our institution. Of the screening tests requiring a second confirmatory assay for definitive diagnosis, only 12% (95% confidence interval 10.3% to 13.7%) were appropriately obtained. We also observed that 73% of patients in our electronic medical record review were inappropriately tested based on existing screening guideline criteria. When parsed by specialty, we identified that hematologists had a higher adherence rate to guideline criteria than do physicians from other specialties. Our study confirms low adherence to thrombophilia screening guidelines across disciplines and indicates the need for continued clinician education.


educational activities; guideline adherence; mass screening; practice guideline; thrombophilia

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