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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:
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A half to one-page summary of the stand-out SNPs (written up in the Treatment Summary on the patient portal) that includes:
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A very brief explanation of what they do
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A list of symptoms they may cause when they are actively causing problems
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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:
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A customized 5-10 page summary discussing
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All major SNPs on your report, what they do, how they affect each other and how your combination maps onto your symptom patterns.
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This is a separate, full color document written just for you, and can be printed or saved on your patient portal.
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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
How to Prepare
It is now possible to get a large part of your genome mapped. There are many mapping services, each offering different insights into your genes, heritage and more. These direct-to-consumer services offer fun perspectives on where your ancestors lived, and show tendencies for various traits like eye and hair color, and may give you a few insights into risk factors for health issues. They are NOT diagnostic, nor are they useful as clinical tools. A few of those services also generate a “raw data” file that you can submit to third-party clinical services. These third-party services use your raw data to generate more clinically useful profiles.
The clinical profile I am most familiar with is generated by Sterling’s app on www.mthfrsupport.com
To get a raw data file of your genome we recommend using AncestryDNA. If you have a 23andMe report from before May 2023, you can use that as well. Both are direct-to-consumer services (no doctor’s order required).
Please follow the instructions below to obtain your genomic data and generate the report to submit to Dr. Becky for her review. (click here to download as a PDF)
Ancestry.com Reports
Step 1:
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Go to https://www.ancestry.com/dna/ and select the AncestryDNA kit.
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You will need to set up an account to do this.
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Once the kit arrives in the mail, follow the instructions for the saliva sample.
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Send in the sample and wait. This may take up to 8 weeks.
Step 2:
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When you get the email from AncestryDNA that your results are ready, download the results and double-click the zip file to create a txt file.
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The email link will only work once, so if you need to download your results again you can follow these instructions: https://support.ancestry.com/s/article/Downloading-DNA-Data?language=en_US
Step 3:
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In the red text box, select “Click here to log in or create an account”.
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Create your account, and click the blue “Click here to order a new report” button.
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Click the large blue “Upload My Genome File” and select the txt file of your results (not the zip file).
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Click Upload and wait.
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Once your file shows up in the list of reports, click it to select it.
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With it selected, the large “Generate Report from Selected File” button will turn blue.
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Click “Generate Report from Selected File” button and select “Variant Report”.
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Pay the fee via Paypal or credit or debit card.
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Generating the report will take a few minutes, and once it is generated, you can download it as a PDF.
Step 4:
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Send the pdf report to Joanna by attaching it to a message in the patient portal.
Please reach out to Joanna at info@doctorbecky.net or (512) 766-4237 if you have any questions about this process.
Older 23andMe.com Reports
Note:
23andMe is actually a research tool – because of this they periodically change what genes they map. In mid 2023 they made such a change and unfortunately eliminated some of the genes that we are most interested in for mapping mood and detox challenges. The instructions below are for 23andMe reports (health or ancestry) generated Before May 2023. We do not recommend using data sets generated after May 2023.
Step 1:
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Login to 23andMe.
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In the top navigation bar (main menu) select TOOLS
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Then select Browse Raw Data
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Under the large bold words “Your Raw Data” are a few sentences of text.
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The word “download” is in blue in the second sentence. Click that.
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Scroll down to the bottom of that page and click “download”
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Make sure you name and save the file so that you can find it again.
Step 2:
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In the red text box, select “Click here to log in or create an account”.
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Create your account, and click the blue “Click here to order a new report” button.
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Click the large blue “Upload My Genome File” and select the .txt file of your results (not the zip file).
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Click Upload and wait.
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Once your file shows up in the list of reports, click it to select it.
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With it selected, the large “Generate Report from Selected File” button will turn blue.
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Click “Generate Report from Selected File” button and select “Variant Report”.
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Pay the fee via Paypal or credit or debit card.
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Generating the report will take a few minutes, and once it is generated, you can download it as a PDF.
Step 3:
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Send the pdf report to Joanna by attaching it to a message in the patient portal.
Please reach out to Joanna at info@doctorbecky.net or (512) 766-4237 if you have any questions about this process.