Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate.
Background: Observational research associating 5,10-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 implica...
| Publicado en: | Journal of Nutrigenetics & Nutrigenomics Vol. 8; no. 3; pp. 137 - 151 |
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| Autores principales: | , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Karger AG
Nov2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=110747554&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 110747554 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 16616499 39R8 jtl: Journal of Nutrigenetics & Nutrigenomics issn: 16616499 maglogo: N pubinfo: dt: Nov2015 vid: 8 iid: 3 pid: 2485 pub: Karger AG artinfo: ui: 110747554 110747554 NLM26484755 110747554 10.1159/000440700 NLM26484755 110747554 ppf: 137 ppct: 14 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate. aug: au: Oberg, Erica Givant, Chris Fisk, Briana Parikh, Carina Bradley, Ryan affil: Pacific Health in Practice, LLC, La Jolla, Calif. sug: subj: Polymorphism, Genetic Oxidoreductases Genes Human ab: Background: Observational research associating 5,10-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 health care 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 8 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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