From bellbottoms to tights to baggies to skinnies, genes never go outta style. They’ve also never been more important to us. Today I’ll talk about actionable genetics for chronically ill patients. Later, I’ll cover preventative genetics, i.e. disease susceptibility in yourself & in family members.
The 2 leading angles for actionable genetics in immune & autoimmune illness appear to be 1) impairments in detoxification and 2) impairments in immune response. Although I think angle #2 is equally important, immunogenomics at this time appear to mostly tell us what we already know. Hopefully in the future there will be genetic tests which can predict response to immune modulators (as current tests predict response to statins and chemotherapy). So that leaves angle #1 for now.
I’ll start with a quote from Dr. Dietrich Klingardt:
“It is a compromise in the detox pathways that sets the stage for illness. If you produce ten toxins and only remove one, you become ill”
Here are some of the genetic tests currently being used by patients to identify and treat detoxification blocks:
HLA-DR
According to Dr. Ritchie Shoemaker, the idea behind the HLA-DR testing is that these genes tell us whether we recognize the toxins released by lyme, mold, and other pathogens. Unrecognized toxins remain in our body and can continue to cause damage directly and/or continue the haywire immune response.
Here is a convenient table for interpreting the HLA-DR results http://www.survivingmold.com/diagnosis/lab-tests. The test can be done by LabCorp.
What to remember: Many patients with poor HLA-DR genes have anecdotally benefited by 1) taking neurotoxin binders such as cholestyramine (CSM) or activated charcoal and/or 2) moving to a home/location with dramatically reduced biotoxin exposure. Based on 54 patient responses on Curetogether.com, avoiding biotoxins was the 7th most effective treatment for ME/CFS. Personally I think it’s the least obvious one of the top 7, and thus the most valuable takeaway.
Methylation Panel
It’s probably the most popular test done in the ME/CFS community due to Rich Van Konynenburg’s groundbreaking work on methylation enzyme blocks leading to depletion of glutathione (our master antioxidant and detoxifier) in ME/CFS. Proper methylation is also responsible for turning on/off genes and silencing viruses.
The most well-known methylation genetic test is the Yasko panel which tests about 50 SNPs (mutations) to see what mutations you have affecting methylation (runs $495). There are some that claim that knowing all of these SNPs is essential, yet in the ME/CFS and Lyme community, many chronically ill patients seem to benefit by just addressing the basic MTHFR and MTHF blocks and adjust for a few caveats (type of b12 to take, limiting sulfur groups etcx) seem to benefit. Rich suggests testing with the more economical methylation panel by Vitamin Diagnostics which tests around 13 non-genetic markers (runs $195). See Rich’s interpretation of the test results.
Methylation & Autoimmune Illness
In a recent study on identical twins, researchers found methylation differences between individuals with SLE and their healthy twins. Interestingly, this wasn’t the case with Rheumatoid Arthritis.
“Persons with high histamine ( > 70) are believed to be undermethylated; persons with low histamine (< 40) are considered overmethylated.” - Willam Walsh, Ph.D., Pfeiffer Treatment Center
Since high histamine is a product of inflammation, this points to the need for more research on whether autoimmunity is associated with genetic methylation blocks.
What to Remember: A poll of 62 ME/CFS patients showed 55% benefit from just taking a handful of supplements like B12 & the natural form of folate on Rich’s Simplified Protocol, and a poll of 40 ME/CFS patients showed 63% benefit from doing Freddd’s b12 treatment plan (similar to Rich’s with a few tweaks like dosages, b12 type, and avoiding all folic & folinic acid).
Detox Panel
Genovations Detoxigenomic Profile (runs $400) is also recommended by Rich. It targets SNPs in enzymes related to phase 1 (P Cytochrome450) and phase 2 (glutathione again!, acetylation, SOD, others) detoxification. This doctor found that 16 of his patients with chemical injury had at least 4 SNPs. Similarly, a combo of SNPs resulting in fast phase I and slow phase 2 detox is often found in ME/CFS patients and environmental illness:
“When this happens, the products generated by Phase 1 (which are often more harmful than the original toxins) are not removed fast enough by Phase 2. The result is a buildup of toxins in the body” - http://www.drkathleenjade.com/CompleteAnswers.htm
What to Remember: This test “identifies individuals potentially susceptible to adverse drug reactions.” The lab also lists nutritional suggestions which may normalize your phase 1/2 imbalances.
23andMe: The Wrecking Ball
23andMe.com is putting the above genetic tests in the rear view mirror faster that Justin Timberlake FutureSex/LoveSounded his merry band of boys. 23andme costs $300 and covers around 40 of the 50 methylation SNPs covered by Yasko, some of the SNPs in the Detoxigenomic Profile as well, some of the HLA-DRs. Soon, it may cover all of them since they’re constantly adding more.
Here’s the kicker: in addition to these genes, 23andMe also includes a million other genes. True, most of these are useless at the moment, but for the price of any of the other genetic panels, you have information that will only become more, not less actionable, as more research is done.
Now, interpreting the 23andMe raw data is not for the faint of heart, but luckily, the heavy lifting is done for us by awesome go-getting chronically ill patients. Dana wrote a great blog on determining your Yasko results from 23andMe: she created a useful spreadsheet for quickly figuring out your Methylation SNPs and continues to add SNPs related to detox pathways. She also summarizes the tools you can use to analyze the data such as the very popular Promethease.
Here’s the Bottom Line: If I were just starting out and trying to get the most actionable genes for the buck, I would get the HLA-DR test done by LabCorp and pay $300 for 23andme. Heck you could probably save enough money to pay someone at Paleohacks.com to analyze your results for you. Here’s a win-win for ya: 23andMe’s researchers are constantly crunching new data for correlations between SNPs and illness, so as more of us get our genes mapped, everyone’s results will become more useful.
Disclaimer: The information in this blog is not advice, and should not be treated as such. You must not rely on the information on this website as an alternative to medical advice from your doctor or other professional healthcare provider. If you have any specific questions about any medical matter you should consult your doctor or other professional healthcare provider.
