Saturday, March 30, 2013

Why Mapping Your DNA Could Save Your Life

Dna-image2013-03-26 17:07:11 UTC

You may think you know yourself like the back of your hand, but unless you've been DNA tested, there's probably a lot you don't know about yourself. Within each of the 50 trillion cells in your body rests the microscopic DNA that programs your entire being — your hair color, your height, your freckles (or lack thereof), your likelihood of developing cancer and whether or not you can taste cilantro.

And yet, few people in their lifetime have actually unlocked this information via DNA mapping. For starters, it used to be quite expensive. And some people might not even realize they have access to this information, while others simply might want to know what their DNA has in store for them as life unfolds.


A refresher course on DNA and genetics

Crushing these barriers is Anne Wojcicki's 23andMe, a $99 DNA testing kit that requires just a few milliliters of spit. That's it, no blood tests or pesky skin pricks. Eight weeks after mailing the kit back, you'll receive a full genetic report that outlines your health risks and ancestry. During those two months, the scientists in 23andMe's lab extract DNA from the cells in your spit and amplify the DNA so they have enough to work with. From there, the DNA is genotyped, yielding your unique report of what makes you, you. (To get the full picture of their ancestry, though, women need to have their father or brother take the test — while everyone has mitochondrial DNA, paternal DNA is passed along through the Y chromosome, which women don't have.)

Thus far, more than 200,000 users have been genotyped via 23andMe, and 90% of those have opted to participate in the company's research efforts. Each survey question counts as a data point, and to date, 23andMe has collected more than 100 million data points, with 2 million more coming each week. The company's in-house research has studied life-threatening sarcomas, Parkinson's Disease and diabetes, as well as lighter topics, such as unibrows and why Shar-Pei dogs are so wrinkly.

With an eye toward revolutionizing health care, the company raised $50 million dollars last year to drop the price of the kits from $999 to $99 and dramatically grow its database. In her blog post about the price drop, Wojcicki writes, "This change is not just about a new price point for personal genetic testing. It is about an ambitious plan that could transform medicine for generations to come."

Mashable spoke with Wojcicki about empowering people with DNA, her favorite scientists, and her husband's curious new tech product (ahem, Google Glass).

Would you do the test, if it revealed that you have an increased risk for Parkinson's Disease or lung cancer? People have strong opinions either way, as seen in the video above, but the way Anne sees it, knowledge is power.

"We really didn’t start out to be a diagnostic company, we really started this to be very holistic, and we wanted to empower people with their genetic information," says Wojcicki, who worked on Wall Street investing in health care companies for 10 years. From that experience, Wojcicki walked away with a sad realization — you, the individual, don’t have a voice in the system. You're talked about as a human subject, with no agency in the health care system. You're simply told what you're going to get, and it's often dictated by your insurance company.

"The industry was filled with really, really good people who want to make a difference in health care, but the system is set up in such a way that we really don’t have optimal health care," explains Wojcicki. Take Type 2 Diabetes, for example. It's a preventable disease, but no one makes money until you actually develop diabetes and need to buy insulin and testing strips. "The system is set up so they make tons of money once you’re diabetic, but if you don’t develop diabetes, no one makes money," says Wojcicki, who deems this a fundamental flaw in the system.

" readability="88" wojcicki. says voice individual give is the and revolution a start to up set was>Because your genotype outlines your risks for developing various diseases and disorders, health care could one day focus on prevention. Patients would rather prevent a disease than treat it effectively, but in today's system, doctors are taught how to treat various conditions, not prevent them altogether. Her own husband, Google co-founder Sergey Brin, donated $50 million to fund the company's Parkinson's Disease research when 23andMe revealed that he's high-risk for the condition.

"I want to empower you with your genetic information, and it happens to include really important information about your health, really fascinating information about your ancestry, and the aggregate data of having millions and millions of people together will create this incredibly powerful database that's going to filter back to you and give you more information about you and make you healthier," says Wojcicki.

Interestingly, Wojcicki says, health care reform has piqued insurance companies' interest in prevention, because understanding your genetics could keep you healthier and prevent complications and costly side effects. But while insurance companies may want this information, it is firmly protected by federal law, and Wojcicki feels that the information — in essence, your identity, should be controlled by the individual at this point in time.

A chromosomal map on 23andMe

Though 23andMe has been around since 2006, its growth and database have skyrocketed since the $99 price point was introduced. With more people in the database, the company can provide a fuller user experience and tell you more about what your genes mean. "What we’re really focused on is growth right now," says Wojcicki, who spends her days in meetings with a wide range of people, from lab scientists to product designers to statisticians.

And as the customer base grows, so too do the volume of emotional stories Wojcicki receives from users. "The reason I wake up every day and do this is because people email me all the time and say, 'You saved my life' and 'Having my genetic information revolutionized things for me.'" One woman did 23andMe to see her sprinting gene and discovered she was high-risk for breast cancer.

"You wake up to that kind of email, and it’s a good day," says Wojcicki.

Wojcicki has a degree in biology from Yale, but you might say science is in her genes — her father is a particle physicist, and she grew up on Stanford's campus, going to particle physics meetings and listening to people who want to challenge Einstein's theories. "The particle physicist community is a really fabulous community, and they’re really about the pursuit of science for the sake of science and pursuit of truth," says Wojcicki. "It’s not a commercial entity, and I have a huge respect for them because they’re really passionate about what they do."

And Wojcicki's own science background comes in handy when she's hiring. She says she knows enough to speak the language, but also knows enough to know she knows nothing. "From a hiring perspective, that’s helpful, because I know I know nothing, and it enables me to feel confident to hire individuals who really know it," she explains, adding that a CEO's overeducation could potentially get in the way of hiring the right people.

As wife of Sergey Brin, Wojcicki has access to Google Glass, and she wore them to the Oscars (as seen in this hilarious TMZ video). She says 23andMe doesn't have any "immediate plans" for Google Glass, but hints at interesting applications of the technology. Glass could document what you ate (helping you monitor sugar intake, for example, which would be useful for Type 2 Diabetes prevention) and capture your environment (perhaps scanning for allergens you're vulnerable to). "It’s definitely going to be a really fun and fabulous tool for health care, and we’ll definitely play around with it to see how we might integrate," says Wojcicki.

Have you tried 23andMe? Would you want to know your genetic information? Tell us in the comments.

Thumbnail image via iStockphoto, cosmin4000 , article images courtesy of 23andMe, YouTube, TMZ

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