Today I want to post on several things that you may have been reading about. The first of these is the twin studies on copy number variation and methylation. Huh? I said "copy Number Variation and Methylation" What are these? I thought everything was about SNPs? I am certain you must be asking yourself these questions. Well, fear not. Unfortunately methylation and copy number variation do not have millions of dollars, corporate giants, VC or PR firms pushing their importance....
But these unique changes make us probably on the lines on 90% similarity. Which, when you look at each other makes a little bit more sense. Right? Just like the fact that 18k genes encode our complex organism. How in the heck does that happen? Well I am here to tell you that SNPs are just the first chapters of our genome novel. Which is a great thing...Imagine if we said...."That's it, end of the story...we know it all" I think that day would be a very sad day for all of us....because on that day G_d would certainly play a joke on all of us. This reminds me when my friend said "You know, I've got it all figured out." The next day, he wrecked his car and then found out he was going to be a daddy.....Well, I guess everything that was in his previous reality was figured out...
So what is the deal with the twin studies? Identical twins are supposed to be identical right? Incorrect. Huh? Well these things have been shown in other studies as well. Let's face it, as geneticists we know that even identical twins are not so identical. In the 1980s and 1990s there were multiple reports of things like Non-random X inactivation leading to X-linked diseases in females. Yet we were still teaching mendelian genetics in university and not teaching any genetics in medical schools.
We don't have it all figured out...and the stuff we have figured out is probably not ALL figured out. A recent article in the American Journal of Human Genetics reminds us that we need to take everything in perspective and always double check things....especially when it comes to your health. They review the science behind Suracell and Salugen and Sciona.....But they do it with a sneaky name A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
That certainly sounds like they reviewed 23andMe and deCodeMe doesn't it? Well....they did not. However they do comment that the SNPs used in the "Nutrigenomic" companies...which were already given the "Honorable Mention" by the GAO. What is the take home on Nutrigenomics?....Find the right company and understand that our understanding as physicians and scientists is pretty young....We have only gotten through the first chapters...
The Sherpa Says: Let's keep reading this book of life....Act when we can but not in an irrational manner. Let's rely on the science....and let the Sherpas guide us...not the press or a rock solid public relations firm. Last but not least, we may be able to sequence a genome for 60k....but we still have a HUGE knowledge and Manpower Gap!
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