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

Emily Parkhurst 1, Elise Calonico 2, Grace Noh 3

Affiliations

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

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.

Keywords: Decision support systems; Genetics; Guideline adherence; Methylenetetrahydrofolate reductase (MTHFR).