Medical Decision Support to Reduce Unwarranted Methylene Tetrahydrofolate Reductase ( MTHFR ) Genetic Testing
- PDF / 656,293 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 101 Downloads / 191 Views
SYSTEMS-LEVEL QUALITY IMPROVEMENT
Medical Decision Support to Reduce Unwarranted Methylene Tetrahydrofolate Reductase (MTHFR) Genetic Testing Emily Parkhurst 1
&
Elise Calonico 1 & Grace Noh 2
Received: 1 May 2020 / Accepted: 15 July 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
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 postalert 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 Methylenetetrahydrofolate reductase (MTHFR) . Guideline adherence . Decision support systems . Genetics
Background The MTHFR gene is responsible for the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme which, with adequate levels of folate, helps regulate homocysteine levels in the blood [1, 2]. There are two common genetic polymorphisms, C677T and A1298C; up to 40% of individuals in the United States are heterozygous carriers and approximately 10–25% are homozygous [3, 4].
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10916-020-01615-5) contains supplementary material, which is available to authorized users. * Emily Parkhurst [email protected] 1
Genetics Department, Southern California Kaiser Permanente, 6041 Cadillac Ave, Los Angeles, CA 90034, USA
2
Genetics Department, Southern California Kaiser Permanente, 9985 Sierra Ave, MOB2, 2nd floor, Fontana, CA 92335, USA
The evidence and recommendations for MTHFR testing have changed over the last twenty years. Initial studies suggested that MTHFR deficiency, and subsequent elevated homocysteine levels, increased the risk for thrombosis including venous thrombosis, corona
Data Loading...
