Unfortunately MTHFR is a source of a lot of exhaustion for us in medical genetics - sort of like the vaccine hesitancy discussion pediatricians are having to always address thanks to some loud influencers on the internet.
As a provider trained in medical genetics, if a patient came to me about MTHFR testing I would politely decline to order it, and explain my reasonings for doing so, while also listening to their experience and trying to find a better evidence-based way to address their problems.
I agree with you that bodies are complex. If you have found something that works for your ailments then by all means I’m not here to take it away from you.
A review article (not original research) from a group of medical students in Poland is not something I would put much weight on honestly.
I’ll be curious what the geneticist you find tells you.
It’s called the Common Disease-Common Variant hypothesis
MTHFR polymorphisms are in 40% of the population so it’s unlikely
the genotype alone would have anything more than the tiniest effect on one’s health. When we look at the large population studies, there’s no real evidence MTHFR hurts you
In your learning, you have probably also read that the two main MTHFR polymorphisms are incredibly common in the population. It’s this prevalence that actually counts against them in their credibility as a disease causing genotype. More common = less impactful effect on health
But now that you know your genetic status, what actually changes? You said yourself that your homocysteine is normal, so your homozygous genotype isn’t having a measurable effect on your folate processing.
Yes! Knowing one’s own family health information is so important but unfortunately not commonly shared amongst relatives.
Good luck to everyone traveling to see family this holiday with big genetic testing results to share. Bc genetics are a family thing, this is a key time to alert family if there’s a concern. Please show those who have tough news to break some grace. 🙏🏾 #genechat
I had an honestly inspiring experience at #NANETS2024 @nanets.bsky.social filled with great networking and confidence building from mentors. I’ve written goals, but any tips on keeping up that post-conference momentum? Especially heading into the holiday season work hiatus?
Optimist: the cup is half full
Pessimist: the cup is half empty
Genetic counselor: the cup isn’t sure why they are here in my office for an appointment
#genechat #genesky
This takes me back to our simulated patients in our genetic counseling training program 🙈
The best line… for me it’s the “well that’s TOO DAMN BAD!!” 😂
I just Googled it 🙈 Anything having to do with folate I’m not touching with a 9 foot pole
Genetic counselors are allied healthcare providers with training in medical genetics and counseling. We empower patients and families with the information and support they need to make healthcare decisions. Often we specialize in particular areas of medicine or industry #oncsky #genechat #genesky
Interesting. Is homocysteine really that commonly elevated? Or at least, is it less common than how prevalent MTHFR variants are? Usually I say homocysteine levels are a more informative test when I patient asks for MTHFR testing
Rather than order MTHFR gene testing, I tell the patients it’s more informative to check their homocysteine levels which MTHFR regulates. They will almost certainly be normal, and that puts a stopper in the MTHFR nonsense.
Rather than order MTHFR gene testing, I tell the patients it’s more informative to check their homocysteine levels which MTHFR regulates. They will almost certainly be normal, and that puts a stopper in the MTHFR nonsense.
Evicore claims it uses the latest evidence-based medicine to ensure that patients receive the care they need. Then why are so many of our patients who meet NCCN criteria getting their genetic testing denied? #gcchat #genechat
While in Chicago I had the pleasure of catching up with my former genetic counseling assistant who has been a full fledged genetic counselor for 2 years! We’re proud of you, Natalie!
Follow the zebras to our 2024 NANETS Multidisciplinary NET
Medical Symposium. The next few days in Chicago will be exciting!
#NANETS24
You inspired me to join Bluesky! I’m looking forward to the connections made here in Chicago and on social media. Thank you
Here at the #NANETS 2024 Medical Symposium in Chicago! 🦓
