Comment · Tue, December 3, 2013 · Ceretropic
The Methylation cycle, Methylation analysis, and the 7 days you have left to get tested (cheaply) thru 23andme.
Original post in this thread
Rage_Boner · 82 points
It’s estimated that 45% of the population have a methylation cycle dysfunction. The [methylation cycle]( http://i.imgur.com/kRb0G3R.jpg) is one of the most important biochemical pathways in the body. It’s a chemical process that happens billions of times per second in our bodies and is responsible for many things, including:
* To produce vital molecules such as Co Q-10 and carnitine.
* To switch on DNA and switch off DNA. This is achieved by activating and deactivating genes by methylation. This is essential for gene expression and protein synthesis. Proteins of course make up the hormones, neurotransmitters, enzymes, immune factors and are fundamental to good health. When viruses attack our bodies, they take over our own DNA in order to replicate themselves. If we can't switch DNA/RNA replication off then we will become more susceptible to viral infection.
* To produce myelin for the brain and nervous system.
* To determine the rate of synthesis of glutathione which is essential for detoxification.
* To determine the rate of synthesis of glutathione which is an essential anti-oxidant as glutathione-peroxidase. Furthermore oxidative stress blocks glutathione synthesis - yet anot…
What they were answering
EnLilaSko · 2 points
To date, 23andMe has failed to provide adequate information to support a determination that the PGS is substantially equivalent to a legally marketed predicate for any of the uses for which you are marketing it
Since July of 2009, we have been diligently working to help you comply with regulatory requirements regarding safety and effectiveness and obtain marketing authorization for your PGS device.
As discussed above, FDA is concerned about the public health consequences of inaccurate results from the PGS device; the main purpose of compliance with FDA’s regulatory requirements is to ensure that the tests work.
However, even after these many interactions with 23andMe, we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses, which have expanded from the uses that the firm identified in its submissions
Aren't all of those implying that they lack research on how accurate the results are AND how accurate the machine is?
u/MisterYouAreSoDumb · Ceretropic
No, they are saying that 23andme has not clinically verified that their interpretation of the results are accurate. They are not stipulating that the SNP test itself is inaccurate. If they were, they would be going after the other genetic testing companies using the same method as 23andme.
There is one mixup in particular that keeps getting referenced. A man had his 23andme results come back, which told him he had two mutations that indicated he had limb-girdle muscular dystrophy. To confirm the results, he exported his raw data from 23andme and imported into Promethase. He found that he did in fact have two mutations that pointed to him having LGMD. However, the mutations were not both on the same gene. This meant that he was not confirmed to have the disorder, as he would need two mutations on the same gene. After speaking to 23andme about it, they found that the web developer had accidentally added the two genes together as a homozygous mutation, rather than keeping them separated as two separate heterozygous ones. That is where the false positive was coming from. They fixed the code and apologized for the issue.
So while there was an issue with 23andme misinterpreting the results, the actual SNP results themselves were accurate. This was easily found in his raw data. Yes this poses an issue for other possible cases. That is why 23andme states they are not giving you medical advice, and gives you the ability to export the raw data and analyze it in other programs. It's also why you should merely use their result pages as a starting point in your research about your issues, which they state clearly on every page.
Some people have even done a much more expensive whole genome sequencing, then compared their results to the raw 23andme data. They found it to have around a .03% error rate. So the raw SNP data from 23andme seem to be very accurate. It's the marketing of the results and recommendations that the FDA is going after.