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World record: 5094 genetic traits

Apparently, I am the most genetically annotated human on Earth. Is this a good thing?

According to a website called “The Universal Record Database” I have the “Most Annotated Genome”. The site claims that I have had more genetics traits analyzed than any other person–5094 traits (and growing). These range from the obvious–male, Caucasian, blue eyes–to the more obscure–a slightly elevated risk for diabetes, narcolepsy, and stroke; and a reduced chance for going bald (ahem). Another genetic test suggests I have a high risk of having an unpleasant side effect if I take cholesterol-lowering statins. And then there is the high risk for heroin addiction, longevity, and a slightly elevated intelligence–not necessarily in that order.

These genetic possibilities come courtesy of a wiki-style website called SNPedia, which devotes a web page each to thousands of genetic markers that can cause a person to have a higher or lower risk for a particular disease or trait. (“SNP” stands for “Single Nucleotide Polymorphism”, a tongue-twister that refers to markers within our DNA code that are responsible for many of the genetic differences between people).

SNPedia analyzed my DNA using a program called Promethease (yes, that’s the right spelling) that allows people who have had their DNA sequenced to check it against the “pages” on the website. Since I have had more of my DNA sequenced than many people–these tests were taken for my recent book, Experimental Manthe program was able to match me to more markers.

Being the most genetically annotated person in the world introduces several interesting issues, including the fact that I have publicly listed my 5094 traits on the SNPedia website.

Am I nuts? Possibly, though no one has discovered a “nuts” gene. I do have a genetic marker that suggests I’m high risk for “novelty seeking”, which might explain why I’m not overly worried about people finding out my genetic proclivities. I also come from a mostly healthy family that thankfully has few dread diseases. If this were not the case, I might have been more reluctant to go public with my genetics.

Another reason is my belief that genetics needs to be understood and discussed–not as abstract and seemingly incomprehensible science, but as information about real people. It won’t be long before most of us are routinely being genetically tested, and its crucial we grasp the basics and the implications about our own DNA.

A second big issue with my DNA analysis (and one day yours) is the current usefulness of this data. The vast majority of the 5094 traits that are linked to diseases have yet to be fully tested to see if they truly are accurate predictors of cancer, heart disease, or macular degeneration. They are preliminary and therefore not to be taken as Gospel as accurate predictors of my genetic future. Genes also are only part of what makes us ill with common diseases. The environment–what we eat, drink and breath–also plays a huge role.

Geneticists and physicians consider only a handful of genetic markers to be valid for clinical use, which is why commercial testing sites such as 23andme and deCodeme offer only a few dozen markers on their sites. But this situation will change as markers are validated to see if they actually work in foretelling one’s risk for disease.

(Click here to read a series of columns I wrote assessing the validity and usefulness of the genetic testing websites).

I suspect that I won’t hold the record for long. Several people have had their entire genomes sequenced - all six billion As, Ts, Cs and Gs of their genetic code–something I haven’t had done yet, though I plan to have this done soon. These full-genomers include the likes of geneticist Craig Venter and Nobel laureate James Watson, who also have made their DNA public–though apparently their results have not been analyzed as thoroughly as mine.

One day, it will be routine to have our genomes sequenced and downloaded into a computer. Already, I can access my 5094 genetic traits on my iPhone by downloading them from the SNPedia website. This means that I can look up my genetic proclivity for, say, metabolizing aspirin before I buy a bottle at the store. Or I can access my risk factors for heart disease while trying to resist a plate full of French fries.

While I was preparing this column, SNPedia has upped my annotation to 5321 traits. In the newly added proclivities, it looks like I have a very slightly elevated risk of osteoarthritis, and a genetic variation that gives me a 15 point drop in blood pressure if I take the beta blocker metoprolol.

Stay tuned. There will be more.

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