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ISSN: 2472-128X

Journal of Clinical & Medical Genomics
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Research Article

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

Erica Oberg1,2*, Chris Givant3, Briana Fisk4, Carina Parikh2 and Ryan Bradley1,2,5
1Pacific Health in Practice, LLC. La Jolla, CA.
2National College of Natural Medicine, School of Research and Graduate Studies, Portland
3La Vita Compounding Pharmacy, San Diego, CA
4George Washington University, Milken Institute School of Public Health, Washington D.C
5National College of Natural Medicine, Helfgott Research Institute, Portland
Corresponding Author : Erica Oberg, ND, MPH
Pacific Health in Practice, La Jolla CA
Tel: 858 459 6919 858 459 6933
E-mail: [email protected]
Received: July 13, 2015 Accepted: August 26, 2015 Published: September 04, 2015
Citation: Oberg E, Givant C, Fisk B, Parikh C, Bradley R (2015) Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate. J Clin Med Genomics 3:124. doi: 10.4172/2472-128X.1000124
Copyright: © 2015 Oberg E, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

Background: Observational research associating methylenetetrahydrofolate reductase (MTHFR) polymorphisms with risk of autism, depression, cancer and cardiovascular disease has led to increased diagnoses of MTHFR, however, doctors lack knowledge about safety, effectiveness, and clinical implications of MTHFR treatment. Treatment strategies are hypothetical and mechanistically-based, including methylfolate with or without other B vitamins.

Aims: This study was designed to formally describe patient and healthcare provider experiences with the diagnosis and clinical management of MTHFR.

Methods: Guided by a structured interview guide, a qualitative study queried patients’ and providers’ observations regarding: testing indications, reaction to results, treatment protocols, and clinical response including adverse effects.

Results: Thirty patients and eight doctors participated. Patient themes included emotionality associated with diagnosis, classification of signs and symptoms, and challenges with treatment. They expressed confusion over their diagnosis, and frustration with the state of knowledge their providers had regarding MTHFR. Testing indications included: fatigue (21%), hormone imbalances (13%), and neurological symptoms (13%) including brain fog (8%). Patients reported improvements in physical (60%) and mental/behavioral symptoms (36%) following treatment. A minority of participants reported side effects but they occurred in almost every body system and ranged in severity. Doctors relied on trial and error to determine treatment doses, frequency and components.

Conclusions: MTHFR testing results in variable clinical processes in domains related to delivery of diagnosis and prognosis, and therapeutic options. However, patients report largely positive experiences. Clinicians and patients would benefit from therapeutic algorithms based on rigorous research.

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