Adherence to thrombophilia screening guidelines appears low

Nearly three-quarters of patients who received thrombophilia testing at an academic medical center did not meet published criteria for screening, according to a brief report published in Journal of Thrombosis and Haemostasis.

Although hematologists had higher adherence rates to screening guidelines than physicians from other specialties, guideline adherence remained low across disciplines, results showed.

“Among patients presenting with venous thromboembolism, approximately half are found to have an underlying thrombophilia,” Maria T. DeSancho, MD, MSc, chief of benign hematology at Weill Cornell Medicine, and colleagues wrote. “In recent years, the development of various tests has allowed clinicians to identify the specific causes of thrombophilia, leading to significant increases in screening for these conditions.”

The British Society of Haematology, the American College of Pathologists and the International Society on Thrombosis and Haemostasis have published guidelines on screening practices for inherited and acquired thrombophilia.

“However, although the different guidelines share many similarities, no definitive consensus exists, largely due to the poor quality of supporting evidence,” DeSancho and colleagues wrote. “Unsurprisingly, the implementation of such screening guideless has not been extensively described in literature.”

DeSancho and colleagues retrospectively reviewed electronic health records and a computational analysis of 2,081 patients undergoing thrombophilia tests at NewYork-Presbyterian–Weill Cornell Medicine from August 2010 to June 2013.

Key study outcome measures included positive diagnostic yield for thrombophilia and clinical adherence to published guidelines.

The researchers observed a positive diagnostic yield of 13.8% (95% CI, 12.3-15.3), which they confirmed through a manual analysis of 100 patient records (point estimate, 18%; 95% CI, 10.5-25.5).

However, this yield was significantly lower than conservative estimates for diagnostic yield among high-risk populations, suggesting overperformance of testing and unnecessary screening for low-risk populations. For instance, another study showed that the diagnostic yield was 34% among patients meeting international consensus criteria for thrombophilia testing (Roldan V, et al. Thromb Res. 2009;124:174-177.).

Only 12% (95% CI, 10.3-13.7) of screening tests requiring a second confirmatory assay for definitive diagnosis were properly obtained.

Overall, 73% of patients received inappropriate testing based on current screening guideline criteria.

Hematologists and oncologists had the highest guideline adherence when analyzed by specialty (64.3%), followed by general internists (39.3%), transplant surgeons (34.3%), obstetricians and gynecologists (11.5%), neurologists (0%) and nephrologists (0%).

The study showed statistically significant differences in guideline adherence among specialized hematologists and oncologists when compared with all other specialists (P < .01), excluding general internists.

The researchers acknowledged the use of a single treatment center as a study limitation. Further, they noted that the exclusion of certain electronic medical records from the final analysis may have led to selection bias.

“Our study highlights the need for medical education regarding guidelines and practices for thrombophilia screening,” DeSancho and colleagues wrote. “With proper education and frequent reevaluation of adherence practices for thrombophilia screening, we hope to achieve higher diagnostic yield and more effectively treat our patients.” – by Cameron Kelsall

Disclosure: The researchers report no relevant financial disclosures.