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减少不必要的亚甲基四氢叶酸还原酶(MTHFR)基因检测的医学决策支持。

Medical Decision Support to Reduce Unwarranted Methylene Tetrahydrofolate Reductase (MTHFR) Genetic Testing.

机构信息

Genetics Department, Southern California Kaiser Permanente, 6041 Cadillac Ave, Los Angeles, CA, 90034, USA.

Genetics Department, Southern California Kaiser Permanente, 9985 Sierra Ave, MOB2, 2nd floor, Fontana, CA, 92335, USA.

出版信息

J Med Syst. 2020 Jul 31;44(9):152. doi: 10.1007/s10916-020-01615-5.

DOI:10.1007/s10916-020-01615-5
PMID:32737598
Abstract

Most major national medical associations have advised against routine MTHFR testing since at least 2013. However, many providers continue to order this unwarranted genetic test. This study assessed the efficacy of an electronic best practice alert to aid ordering providers. We tracked the rate of MTHFR tests ordered per 1 million patients in the twelve months before and after the implementation of an alert that suggested an alternative test. Associated factors including the ordering department, diagnosis, patient sex, and patient age were also analyzed. Chi square analysis was used to compare the difference between pre- and post-alert test ordering rates. A total of 997 MTHFR analysis were ordered in Southern California Kaiser Permanente from January 2017 through December 2018. Overall, the average MTHFR monthly test ordering rates dropped significantly from 12.93 per million patients in 2017 to 7.08 per million patients in 2018 (p = 0.0056). However, testing rates in children were unchanged and, in some associated diagnoses, such as psychiatric illnesses and neurodevelopmental conditions, the testing rates increased. Recommending an alternate test in lieu of the unwarranted one significantly reduced the overall rate of MTHFR testing. The alert was most effective for specialties and diagnoses where MTHFR was historically medically indicated. This suggests such alerts are an effective intervention that health care systems can implement to serve as an educational update and to reduce unwarranted genetic testing.

摘要

大多数主要的国家医学协会自 2013 年以来一直建议不要常规进行 MTHFR 检测。然而,许多医生仍继续开这种不必要的基因检测。本研究评估了电子最佳实践警报辅助医嘱的效果。我们在实施替代检测建议的警报前后 12 个月内,追踪了每 100 万患者中 MTHFR 检测的订单率。还分析了与订单相关的科室、诊断、患者性别和年龄等因素。采用卡方分析比较了警报前后检测订单率的差异。2017 年 1 月至 2018 年 12 月,南加州 Kaiser Permanente 共开出了 997 次 MTHFR 分析。总体而言,MTHFR 每月检测订单率从 2017 年的 12.93/百万人显著下降到 2018 年的 7.08/百万人(p=0.0056)。然而,儿童的检测率保持不变,在某些相关诊断中,如精神疾病和神经发育状况,检测率反而增加。建议用替代检测代替不必要的检测,显著降低了 MTHFR 检测的总比率。该警报对 MTHFR 历来具有医学指征的专科和诊断最有效。这表明,这种警报是一种有效的干预措施,医疗保健系统可以实施,作为教育更新,并减少不必要的基因检测。

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