MTHFR Gene: What’s real, what’s not and what does it actually mean?

In today's conversation, Kate Wilson welcomes Emalyn Cork to explore the complexities of the MTHFR gene, a topic that has sparked curiosity and confusion alike in both clinical settings and the general public. Emalyn explains the complexities of the MTHFR gene, debunks common misconceptions, and discusses when genetic testing is truly necessary.

Key words:

MTHFR, genetics, homocysteine, genetic testing, medical misinformation, folic acid, genetic variants, health risks, clinical utility, genetic counseling

Key Topics:

What the MTHFR gene does in the body

Common misconceptions about MTHFR variants

When genetic testing for MTHFR is clinically relevant

Risks of unnecessary genetic testing and treatments

How to interpret genetic test results responsibly

Guest bio:

Emalyn is the Assistant Director of Genetic Counseling at Emory Healthcare. She works with pediatric and adult clinical genetics patients in the inpatient and outpatient settings. She graduated from Mount Sinai's genetic counseling training program in 2018 and worked as a genetic counselor in their clinic for inborn errors of metabolism before moving to Atlanta to join Emory's team in 2021. She has a special interest in metabolic and mitochondrial diseases and is passionate about the education and mentorship of genetics trainees.

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