MTHFR and Beyond:
Genomic Assessment

Many people have now heard of MTHFr and want to know if they have it and how it might affect them. 

Many companies now provide direct-to-consumer MTHFr and genetic SNP testing.  While these new profiles are great, it can seem like alphabet soup and it can still be hard to navigate all the information online and figure out what, if anything, you should do to support your unique situation.  

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If you have gone down the MTHFR "and more" rabbit hole at all, you have discovered that genomics are more complex than they appear. I have been working with genomic reports since 2009, and over the years I have learned that it is NOT a good idea to "treat the gene" just because there is a mutation.  Most genomic systems are much more dynamic than you would suspect, and the “mutations” shown on reports must be put in context to identify the best way to support them. Sometimes they don't need to be "treated" at all. Over-treating can be just as problematic as under-treating.

 

Because of this, a genomic interpretation is very complicated and requires a lot more time and focus than any other lab tests I review, and I cannot make recommendations based only on a genomic report.  Genomics MUST be put in context of diet, chemical exposures, family history, current symptoms, and how someone feels NOW.  

 

With this in mind, I require a full first visit to really understand a person's presentation BEFORE I look at their genomics.  Reviewing a report and writing up my interpretation takes a minimum of an hour (many take me 3 or more hours for longer reports or with more complex cases). Explaining the report (and my interpretation) happens during a follow up visit, and often requires an entire 60-90 min session. 

 

I offer two options for your Genomic review:

 

Option 1: Expert Site-Reading (deep, but less in-depth)

    1) 90-minute new patient visit to fully understand symptoms / history

    2) One hour of research time at $150 / hr resulting in:

• A half to one-page summary of the stand-out SNPs (written up in the Treatment Summary on the patient portal) that includes:

• A very brief explanation of what they do

• A list of symptoms they may cause when they are actively causing problems

• A list of supplements that can be used for support

    3) 60-90 minute follow up visit to go over the report and verbally explain findings, implications, supplements

 

 

Option 2:  Genomic Deep Dive (more in-depth)

    1) 90-120 minute new patient visit to fully understand symptoms / history

    2) 2-3 hours of research time at $150 / hr resulting in:

• A customized 5-10 page summary discussing

• All major SNPs on your report, what they do, how they affect each other and how your combination maps onto your symptom patterns.

• This is a separate, full color document written just for you, and can be printed or saved on your patient portal.

• A list of supplements that would be used for support, and how often / when you might want to take them

    3) 90 – 120 min follow up visit to go over the report and verbally explain findings, implications, supplements