Tuesday, 15 December, 2009

That's a Bad Cough, Let's Examine Your Genome


In 2003, we mapped the human genome, the 20,000-ish genes we all share. It cost $3 billion. Today, you can literally spit in a cup, place the saliva in the mail and get a peek at your own.

Services like 23andMe (proponents of the above-mentioned "spit parties") and Navigenics both examine specific snippets of your genome for known severe genetic conditions like diabetes, bipolar disorder and certain types of cancers (as well as goofier stuff like freckling and "food preference").

Meanwhile, a boutique genome mapping company named Knome maps not just snippets of DNA but your entire genome, using a blood sample. When it's ready, they sit you down with a doctor to explain their findings.

This thoroughness comes at a cost, of course. Knome's service will run you the price of a Porsche, while their competitors bill up to only a thousand dollars, often less. And while we can technically map the entire genome, we certainly can't understand everything we see.

Ari Kiirikki, a VP at Knome we met at TEDMED, decodes the future of genomics in this brief Q&A:

Where's genomics now?

The first human genome, completed in 2003, took 13 years and nearly $3 billion to decode. Today, we can sequence and interpret an entire human genome in a matter of weeks for less than $70,000 (our current price is $68,000). New software and other analytical tools have put decades of accumulated scientific research at our fingertips, enabling us to analyze an individual's DNA in order to identify risk for thousands of diseases and other inherited traits and conditions.

What will we be doing in 5 years?

Within 5 years, the cost of sequencing an entire human genome is expected to plummet below $1,000, which will dramatically increase the demand for genetic sequence interpretation. The resulting increase in raw data will enable scientists to make new and important discoveries linking our DNA to health and disease, thereby further increasing the clinical utility of DNA analysis. This will enable us to finally deliver on the promise of personalized medicine by allowing scientists to begin the development medicines and individualized "cocktails" of therapeutics tailored to individual genetic profiles.

In 10?

Ten years from now, sequencing a human genome will cost less than $100. Within the decade, scientists are likely to have unraveled precisely how DNA interacts with our environment to impact our risk for developing disease. Expect DNA sequencing to become a regular part of your annual check-up along with the introduction of new therapeutics that can be prescribed to help delay or completely avoid getting specific diseases that you may be predisposed to.

And now we're stretching it, what about 20?

Every medicine you take will be tailored specifically to your genome. Every newborn child will be sequenced at birth, enabling future generations to use their DNA to guide the management of their health over their entire lifetime. Perhaps most amazingly, your DNA will be fully integrated into your everyday life. Genetics will move beyond the clinic, into a broad range of consumer products—snacks, vitamins, mouthwash, skin creams, dating services, etc., all optimized for your unique genetic profile.
-Mark Wilson

I can't speak for everyone here, but I could certainly go for a stick of gum that, instead of being labeled "grape" or "spearmint," simply stated, "You'll enjoy DNA-certified flavor, fatty."

[Image: Human chromosomes "painted" by flourescent dyes to detect abnormal exchange of genetic material frequently present in cancer. Chromosome paints also serve as valuable resources for other clinical and research applications.

Human Genome Program, U.S. Department of Energy, Human Genome Program Report, 1997.]

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