Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate

Principal Investigators: Erica Oberg, ND & Ryan Bradley ND, MPH

Abstract: Wide availability of genetic testing and increasing consumer demand for personalized medicine has lead to an increase in the diagnosis of genetic polymorphisms. One of the most commonly tested genes is MTHFR. This gene has been implicated in numerous medical conditions ranging from depression to autism to increased risk of cancer and cardiovascular disease.

Pharmacogenetics is the area of medicine that is evolving to treat genetic polymorphisms.  In the case of MTHFR polymorphisms, treatment with methylated forms of folate bypasses the defect on folic acid metabolism, supplying the patient with usable methylfolate that participates in numerous metabolic pathways that involve methylation.  These critical pathways range from DNA synthesis to detoxification to blood clotting to fetal development in utero.

Because treatment with methylfolate is recommended based on lab testing for MTHFR polymorphisms rather than solely being based clinical expertise, we hypothesize that people may have unique experiences that warrant reporting in the literature.  For example, patients may feel relief at having a therapeutic option to compensate for the polymorphism. Doctors may have unique insights into clinical situations that respond to methylfolate treatment that were previously unresponsive to folic acid. No reports of adverse events have been made in the literature; we will specifically ask about adverse events to address this knowledge gap.

Link to paper