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Whole Genome Analysis and You Have you ever heard of celebrity "spit parties" where the rich and famous provide their DNA for testing?

Well, you can too, right from home. Just send off your sample and a number of commercial companies will test it and analyze it for you.

What they determine is whether you carry any of the million genetic variations in the DNA sequence called single nucleotide polymorphisms or SNPs.

Certain SNPs are associated with particular traits, syndromes or diseases. They can also determine interesting traits, such as eye color and the ability to taste bitter flavors. It can also reveal your ancestry.

Though fascinating this kind of testing is ahead of law and society. There are few government regulations to protect consumers and since most family doctors are unable to interpret the data, consumers have only the analysis made by the commercial provider.

Except the data isn't so easy to interpret. For example, it should be done in context. If the genetic test indicates you have a 20% increased risk of developing diabetes, you also have to consider your age, weight, body type, and exercise regimen and if you have relatives with diabetes.

Plus, if the results are disclosed, it could possibly impact employment opportunities, insurance coverage and even personal relationships. On the flip side, it's great if it helps motivate someone to get healthier.

But consider if for example you're 30 and your genome showed you're going to develop Alzheimer's disease, multiple sclerosis, or Lou Gehrig's Disease? Would you live life any differently? Would you have children?

So before spending hundreds or thousands of dollars, think about what information you want, talk to your doctor, and get advice from genetic counselors. Just because we have the technology does not mean it is something we should use.

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For more information…

For an article entitled "Direct-to-consumer genetic tests: beyond medical regulation?"
By David Magnus and his colleagues discusses genome testing, its importance in the future that is called "personalized medicine" and the limitations for the consumer. He also published another article entitled "Direct-to-Consumer Genetic Tests: Beyond Medical Regulation?" that discusses the testing, its regulation and how much medical information they really provide.

An article entitled "he $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals" by John A. Robertson in the American Journal of Bioethics is a broad ranging article that discusses the importance of genomics and the practical and ethical issues surrounding this technology.
For more information…

A letter in the New England Journal of Medicine continues the discussion about consumer genome analysis and provide additional links here.

The National Institutes of Health has information about the Genome Wide Association Studies (GWAS) the methods used to perform consumer whole genome analysis.
For more information…

Nature magazine has a very nice explanation of the GWAS methodology here.

 
 

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