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MTHFR and Beyond: Genomic Assessment
Why Test Your Genome?
You have health issues that don’t respond as expected to treatment.
You are curious about MTHFR or other SNPs.
You want to explore your genetic risk factors so you can be proactive about prevention.
You want to find out what forms of exercise might be best for you, or if your genetics are wired for a low carb diet.
Getting your genome mapped can be a valuable piece of the health mystery puzzle, and can be a powerful tool for prevention.
The Challenge
There are lots of gene testing services available now. Some are Direct to Consumer and some are practitioner moderated. All these test services look similar on the surface but they are not interchangeable. They all cover different genes, and the information provided on reports varies wildly.
We have over 20,000 genes, with billions of possible variants. Some variants matter, some don’t, some only matter some of the time. Some SNPs are protective, some magnify the impact of others.
If you want genomic testing to explore specific health issues it can be extremely difficult to figure out which test to use or to put the results in perspective.
Stuff to know
There is a difference between a whole gene, a gene SNP and epi-genetics.
There are 2 copies of each gene, each can have variations.
Genetic risk factors are only once piece of disease development.
Treat the "state" not the SNP. It is never about just one gene.
Genomic assessment MUST be put in context of health history, family history, diet, lifestyle, exposures and symptoms.
What I Offer
I have been working with MTHFR related issues since 2009 and do my best to stay current with this rapidly evolving body of information. I review and explain genetic reports, and combined with your symptom picture can make specific suggestions for diet and supplementation to support the re-balancing of your body.
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 test I review.
My Process
Onboarding New Patient Visit
I require a full "New Patient" visit to really understand a person's presentation BEFORE I look at their genomics. Genomics MUST be put in context of diet, chemical exposures, family history, current symptoms, and how someone feels NOW. If you are an established patient, you have already completed this step.
Test Selection
I can assist with selecting the best test panels, and ordering tests if necessary. If you already have a test, bring it to the first visit to make sure it contains the information you need.
Click HERE to see the testing products I work with.
Click HERE for a comprehensive review of the top 20+ testing services of 2024 (I do not work with most of the products in the review).
Select Review Depth
Reviewing a report and writing up my interpretation takes a minimum of an hour, and can take up to 4 hours for the longer reports, or more complex cases. We will discuss your needs and set a "research time" budget for me to work within.
Test Kit Processing
See instructions per test below.
Purchase Test, Collect Sample, Send to Lab
If test is Direct to Consumer, forward a copy to us
If test is Practitioner Moderated, we will contact you when results are in
Review and Plan Assembly
I will review your results and prepare a plan, completely unique to you, your current challenges and goals. This is much more specific than the (necessarily) generic advice produced by AI algorithms at the test companies. This will include all major SNPs on your report, what they do, how they interact with each other, and how they correlate to the themes in your health picture. I will also generate a list of diet, lifestyle and supplement recommendations. When to use them and when you shouldn't.
Follow Up Visit to explain results and support plan
Explaining the report (and my interpretation) happens during a follow up visit, and often requires between 1-2 hours.
Click HERE to see price estimates for this process.
How do I know which test is right for me?
After extensive review of the available products, I have found 6 products that offer test panels and reports that have clinical application. Some you can do yourself, some require an order from me. The 6 products I work with are listed below.
Reminder, all of these tests do not cover the same genes, and they are not interchangeable. If you want to know about specific genes, or specific types of health issues, I strongly suggest you work with the practitioner who will interpret them to help you choose the right test.
Direct to Consumer Options
Ancestry + MTHFR Support
Most affordable way to get large genome map, accuracy not guaranteed
Step 1: Gene Map Go to https://www.ancestry.com/dna/ and select the AncestryDNA kit. You will need to set up an account to do this. Once the kit arrives in the mail, follow the instructions for the saliva sample. Send in the sample and wait. This may take up to 8 weeks. Step 2: Raw Data 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. 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: MTHFR Support Report Go to the website https://mthfrsupport.com/sterlings-app/. In the red text box, select “Click here to log in or create an account”. Create your account, and click the blue “Click here to order a new report” button. Click the large blue “Upload My Genome File” and select the txt file of your results (not the zip file). Click Upload and wait. Once your file shows up in the list of reports, click it to select it. With it selected, the large “Generate Report from Selected File” button will turn blue. Click “Generate Report from Selected File” button and select “Variant Report”. Pay the fee via Paypal or credit or debit card. Generating the report will take a few minutes, and once it is generated, you can download it as a PDF. Step 4: 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 (888) 360-0403 if you have any questions about this process.
23andMe + MTHFR
The instrucitons below are only for 23andMe reports done before May 2023.
Note: 23andMe is a research tool, so periodically changes what genest they map. In mid 2023 they made a change that eliminated many of the genes my clients related to mood, methylation and detox. The instrucitons below are only for 23andMe reports done before May 2023. Step 1: Raw Data Login to 23andMe In the top navigation bar (main menu) select TOOLS Then select Browse Raw Data Under the large bold words "Your Raw Data" are a few sentences of text. The word "download" is in blue in the second sentence. Click that. Make sure you name and save the file so that you can find it again. Step 2: MTHFR Support Report Go to the website: https://mthfrsupport.com/serlings-app/ In the red text box, select "Click here to log in or create account". Create your account, and click the blue "Click here to order a new report" button. Click the large blue "Upload My Genome File" and select the .txt file of your results (not the zip file). Click Upload and wait. Once your file shows up in the list of reports, click it to select. With it selected, the large "Generate Report from Selected File" button will turn blue. Click "Generate Report from Selected File" button and select "Variant Report" Pay the fee via Paypal, credit or debit card. Generating the report will take a few minutes. Once it is generated you can download it as a PDF Step 3: Send the PDF report to Joanna by attaching it ot a message in the patient portal. Please reach out to Joanna at info@doctorbecky.net or (888) 360-0403 if you have questions about this process.
MaxGen
Function and Works panel very similar, Works has more interpretation on report
Step 1: Gene Map Order your test from MaxGen, select Works or Function report. When kit arrives collect sample and send back to lab. Lab will send your results when ready. Step 2: Send the PDF report to Joanna by attaching it ot a message in the patient portal. Please reach out to Joanna at info@doctorbecky.net or (888) 360-0403 if you have questions about this process.
Practitioner Moderated
IntellxxDNA
Medical Overview, Mental Wellness and Brain Optimization Panels
Step 1: Meet with doctor to select correct panel or combo. Practitioner will place order. Step 2: Pay. When kit arrives follow instructions, collect sample, and send back to lab. Step 3: When results arrive schedule follow up visit to review results and recommendations
DNA Life
Frequently recommended panels:
Core, Health, Life, MedCheck
Step 1: Meet with doctor to select correct panel or combo. Practitioner will place order. Step 2: Pay. When kit arrives follow instructions, collect sample, and send back to lab. Step 3: When results arrive schedule follow up visit to review results and recommendations