Inside Science

Let’s get personal about your genome

CorrespondentJanuary 19, 2014 

Dr. David J. Kroll is director of strategic science communications at the N.C. Museum of Natural Sciences and adjunct associate professor of English at N.C. State University.

NCSU

As you looked in the mirror this morning, the person you saw was the result of 3.2 billion building blocks of DNA all working together. Cobbled together into almost all of our cells as two pairs of 23 chromosomes, our genome carries the information that interacts with our environment to determine traits as diverse as hair color and risk of heart disease. The cost of learning about these genetic packets of instructions has plummeted recently, giving more people more access to more information about themselves.

You might have received a personal genomic kit for the holidays – a “spit kit.” All these personal DNA testing kits require of you is to elegantly collect your saliva in a tube and send it off to a laboratory that isolates the DNA from cells floating inside your mouth. They don’t yet analyze all 3.2 billion DNA bases with these $99 kits. That still costs around $10,000. Instead, they look for known variations in certain DNA sequences called single nucleotide polymorphisms, or SNPs (“snips”). In a few weeks – probably about now if you got one for Christmas – your password-protected account on the company’s website will list more than 200 of your SNPs. You’ll also learn about your genetic ancestry.

The U.S. Food and Drug Administration ruled in November that the kit sold by the most prominent of these companies, 23andMe, was a “medical device” that has not received regulatory marketing approval.

Wait, spitting in a tube requires the same scrutiny as a pacemaker or glucose monitor for diabetics? Well, the FDA says so because 23andMe linked your DNA information to health-related data: scientific associations for risks of diseases or how fast you metabolize drugs. The accuracy of the results – and the strengths of the scientific conclusions about your SNPs and health information – have not been proven to FDA’s satisfaction. For now, 23andMe can only disclose your ancestral information for kits purchased after Nov. 22. And just over a week ago, the Federal Trade Commission charged that another company, GeneLink Biosciences, was giving customers misleading medical information by selling supplements based on their personal genomics results.

Health freedom advocates are crying, “Foul!” Your DNA is yours, right? Correct. But the moment a third-party gives you medical information about your DNA, the process must meet strict regulations. As costs shrink for getting your entire DNA sequence, watch as this conflict plays out in 2014.

David Kroll is director of strategic science communications at the N.C. Museum of Natural Sciences and adjunct associate professor of English at N.C. State University. Follow follow the museum on Twitter @naturalsciences or at facebook.com/naturalsciences.

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