The Financial Burden of Unnecessary MTHFR Gene Testing

Introduction:

Polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene have controversially been associated with an increased risk of venous thromboembolic event(s) VTEs and cerebrovascular accidents (CVAs). However, as per consensus guidelines and evidence-based recommendations, routine testing of the MTHFR gene has not been recommended for workup of thrombophilia and stroke. Despite these existing guidelines, testing of the MTHFR gene mutation is still frequently performed. We aim to analyze the financial burden of this unnecessary and clinically irrelevant testing.

Methods:

At our institution, we conducted an Institutional Review Board (IRB)-approved retrospective study, collecting data on 196 patients who had undergone testing for MTHFR gene mutations between 12/2019 to 12/2022. We excluded patients with these tests performed for indications other than workup for thrombophilia(s) and cerebrovascular accidents (CVAs). Our data collection included patient demographics, indications for testing, and insurance coverage. We incorporated this data to calculate the financial implication on our institution, associated with unnecessary testing of MTHFR gene mutations in patients with elevated thrombotic risk and stroke(s).

Results:

The median age of testing for the MTHFR gene was 42+/-6 years, with females contributing (58) 64.6% and males (32) constituting 35.5%. Gene testing was done for 24 patients with TIAs and CVAs and in 66 patients with VTEs. Out of all the 90 patients tested for the gene mutations, 16 were covered by Medicare, 27 by Medicaid and 47 benefitted from private-based insurance. MTHFR testing costs approximately $300 to a patient willing to get tested for it at our institution, with prices being higher, around $400, if the testing was done outpatient.

Conclusions:

We found that over three years, an expenditure of $27,000 was spent on testing MTHFR gene mutations. We aim to publish this data within our institution and conduct educational sessions across various departments, and physician education regarding clinical insignificance and excessive costs of this single test. This initiative is focused on minimizing unnecessary testing to decrease patient costs and reduce overall healthcare expenses.

No relevant conflicts of interest to declare.