WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Thursday, May 16, 2013

23andMe and DIY Genetics

NOTE: 23andMe, Genetic Genie, and Promethease are not meant to replace the care of a Medical Dr. I strongly recommend discussing any genetic results with your Dr. Genetics is a field growing by the day, and it is a complex field that a Dr. Specializing in Genetics is best to consult with.. Results from these tests are only results they do not mean you have a disease or will get a disease.- Some states like NY and Maryland have gone as far as to restrict their citizens from being able to independently order these type of genetic tests. For some, the results may be alarming despite understanding that only your Dr. can make a final determination on what you should be worried about. There are fun things like what type of tastebuds you have, or your eye color(which was wrong on Abby's by the way)but all findings on genetic test are NOT valid until reviewed by a Medical Dr. with training in the field of genetics.

Took 6 weeks but the health results are back.

As expected nothing we did not already know in the health summary.

It was well worth it though, and here is why.

When 23andMe runs their software it only picks up on a very limited field of variants for a few diseases/characteristics. That raw data however can be downloaded.

What do you do with 10,000+SNP's ? You turn around and upload them free(donations welcome)at Genetic Genie. Their software focuses on Methylation.

By now you have likely heard the word Methylation. I still don't understand it completely, but what it offered us was some insight in how Abby's body processes. She has some issues in various pathways and via nutrition(many supplement) you can help overcome the issues that come from the problem. Not sure you can elimination the problem, but they are treatable. It gave us insight into what we have done right this past couple years focusing on various nutritional elements, and what we can still improve.

Here is an example of the info from Genetic Gene:

Addressing ACAT and SHMT SNPs
ACAT1-02 (acetyl coenzyme A acetyltransferase) plays a role lipid metabolism and energy generation. It can also deplete B12. As with CBS, Dr. Yasko views this as a first priority mutation. Going by Yasko's clinical experience, she says to address them first if you have elevated iron on a UEE, elevated iron on a UEE test, Short Chain Fatty Acid (SCFA) imbalances on a CSA test, suberic acid, beta hydroxyl methylglutaric acid, or other ketone and fatty acid metabolites imbalances on a MAP or OAT test; or if there are severe gut issues or muscle weakness (which can be related to aluminum retention)". She says people with ACAT or SHMT are more likely to experience gut dysbiosis. Because of disrupted flora, microbes may have an affinity for and retain toxic metals. Stabilizing the gut environment is very important.
More info to come as Genetic Genie continues to research these SNPs.

Some of you are probably thinking- not for me, I get that not everyone believes medicine should start with food. Honestly I think really good medicine is a combination of environmental/nutritional and the more traditional Medicine.

So, I suggest taking your raw data to Promethease. This program will cost you 5 dollars- that is it. The amount of genetic data it provides is shocking for that 5 dollars. The software to search and review your findings probably is a little overwhelming but you get the hang of it quickly. Based on hours of digging yesterday, much of the accessible genetic studies are going to be on the "most common" diseases like cancer,diabetes,heart disease. However, lots of other neat things too!

From certain SNP's found in collagen disorders to whether you have the mutation that makes cilantro taste like soap, the amount of data is truly impressive.

Here is an example from Promethease:


fully heterozygous, age related tasting variation You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but that this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. A 2010 study shows the change bitter sensitivity which occurs over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. Children with this genotype could perceive a bitter taste at lower PROP concentrations than could heterozygous adults. The threshold for adolescents was intermediate. The 3 SNPs are rs10246939, rs1726866, rs713598 in the gene TAS2R38

A trivial finding for example, but a fun one.. despite the massive amount of data to mine provided by Promethease, it really is fun to comb through. I haven't even looked at much ancestral data from 23andme yet, that is for another day.

Have I learned anything to help diagnose Abby? Not sure.
Have I learned more to help Abby? Yes.

How much did it cost between the three programs(23andme,genetic genie,Promethease) a grand total of 105.00

Did you find anything scary? No, you MUST remember that genetics aren't absolute. Simply indicating risk can be helpful to encourage better life habits. Or knowing a higher risk of cancer might make you better about booking your physical each year- it doesn't mean you are going to get cancer, or heart disease.. If you can remember that as you sort and dredge data then none of it is scary.


Anonymous said...

Hmm...this sounds interesting! I'm wondering if I should have it run on my daughter. So, when you upload the data to Genetic Genie, it returns information based on the SNPs found in the data from the original test? Is that right? And then you also used Promethease? From the little that I just looked up on that, it looks to be very confusing as to how to interpret the results! Guess I'd better read up on some basic genetics terms!

Diane said...

I am not great at explaining! :-) But yes. Once your 23andMe results are ready, you will have access to the raw data. The raw data contains a lot genetic information that 23andme doesn't tabulate.

You upload your raw data from 23andme to the genetic genie(free)it will give you methylation pathway information. The genetic genie is based on Yasko and her findings. It is quite interesting really. It showed folate issues,sulfa and more for Abby some of which we have already recognized but was nice to know her "genetics" concluded the same findings as ours through our trial and error approach this past 2 years.

Then Promethease. It is of course not a "full genome" but it does cover many many mutations that are public domain in their software. It costs 5 dollars. We found everything from eye color, to increased risk for various metabolic,cancer etc.

Yes, SNP's are the correct term. When you look at the raw data it just looks like numbers and letters for each SNP. But the various programs give you information on each little SNP(or more then what 23andme offer.

It has kept me entertained but more then that we found quite a bit that helps explain various risks, and current health concerns.

Hope that helped and I did not confuse you further! :-)

Diane said...

FYI- this not a replacement for seeing a Geneticist- nor do the results mean a whole lot without consulting with a Medical Dr. familiar with genetics. However, if you are a curious one, it can help you find various findings that may or may not be valid or may or may not be helpful I would never recommend diagnosing yourself, or child with these findings- that can ONLY be done by a geneticist. I also strongly recommend discussing any findings with your Dr. Genetics are complicated more often then not, they are very easy to misunderstand. You will likely find all sorts of findings that indicate you "may" be at higher risk for a zillion different diseases. This doesn't mean you will get any. However, it may be helpful in helping you and your Dr. decide what is worth watching more closely. "May". :-)

Anonymous said...

Thanks for all the explanations! And for the warning! But don't worry, I understand! We have seen many geneticists, and currently have one genetic counselor on board who is priceless. But, they've grown weary of looking for that needle in the haystack, and have been in a wait and see mode for a few years. And, yes, I am a curious person and one who has to UNDERSTAND everything! Sounds like this might help satisfy some of that, with the caveat that it could possibly uncover something of even more value also.

I just replied to your recent post about the doctor's blog...forgot to sign my name!


Diane said...

:-) No worries Teresa! As I was reading your comment, I realized I "should" add something to make sure folks remember I am just a Mom. :-) I am getting ready to dig into what the EDS community has found in all their mutual mutations, and I am just finding is incredibly interesting finding the connections between all of this stuff.. odds are it will be years before any of it means much, but in the meantime it sure helps me sort the tangled ball of Abby :-) As more and more people turn to these type of alternative options for genetics it makes discovery quicker and faster for the Researchers with accreditation to make sense of it all.

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