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Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and
Erica Oberg1, Chris Givant, Briana Fisk
1Pacific Health in Practice, LLC, La Jolla, Calif., USA.
Journal of Nutrigenetics and Nutrigenomics
|October 21, 2015
Summary
Patients diagnosed with MTHFR polymorphisms report positive treatment experiences, despite clinician knowledge gaps. Further research is needed for standardized MTHFR treatment algorithms.
Area of Science:
- Genetics and Personalized Medicine
- Nutritional Biochemistry
- Clinical Psychology
Background:
- MTHFR polymorphisms are linked to various diseases, increasing diagnoses.
- Clinicians often lack knowledge on MTHFR treatment safety, effectiveness, and implications.
- Current MTHFR treatment strategies are largely hypothetical, focusing on methylfolate supplementation.
Purpose of the Study:
- To explore patient and healthcare provider experiences with MTHFR diagnosis and management.
- To identify challenges and successes in the clinical application of MTHFR testing.
Main Methods:
- A qualitative study using structured interviews with 30 patients and 8 doctors.
- Explored patient and provider perspectives on testing indications, diagnosis reactions, treatment protocols, and clinical outcomes.
- Investigated adverse effects and clinician approaches to treatment determination.
Main Results:
- Patients experienced emotional responses to diagnosis and confusion regarding MTHFR knowledge among providers.
- Common testing indications included fatigue, hormone imbalances, and neurological symptoms.
- A majority of patients reported symptom improvement (physical and mental/behavioral) with treatment, though side effects occurred across multiple body systems.
- Clinicians used trial-and-error methods for MTHFR treatment adjustments.
Conclusions:
- MTHFR testing leads to varied clinical practices in diagnosis, prognosis, and treatment.
- Patients generally report positive outcomes from MTHFR treatment.
- Development of evidence-based therapeutic algorithms is crucial for both clinicians and patients.
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