For Preventing Disease, Data Are the New Drugs
A few key data points about Amelia Sloan: She likes to suck her own toes. She wears pink tutus. She doesn’t do interviews with journalists. She was born in Falls Church, Va. on April 25, 2013, at 6:54 p.m., weighing in at 8 pounds, 2 ounces. Amelia entered the world right on schedule, but not all her fellow Tauruses did, a fact that raises other key data points: In the United States, some 500,000 babies are born prematurely every year. At birth, each weighs less than a two-liter soda bottle. They cost the healthcare system an estimated annual $26 billion. More than 330,000 of them don’t survive the first year, and many of the rest suffer life-long health and cognitive problems. And doctors don’t know why.
To unravel the mystery, scientists at the hospital where Amelia was born are combing through yet another dataset: The billions of molecules of her healthy newborn genome compared to the genomes of preemies. Taken together, these are themselves only one small point in a vast constellation of genomic data being collected by medical scientists on a scale impossible only a few years ago. A new cadre of medical researchers believes that examining the full genetic information of as many people as possible will reveal not just the cures for health problems ranging from pre-term birth to cancer and autism, but the predictive insight to prevent them from happening altogether.
Everything about your body, from the basic structure and function of your vital organs to your eye and skin color, is encoded in a unique strand of 3 billion molecules called nucleotides, which come in four flavors represented by the letters A, T, C, and G. In aggregate, the nucleotides spell out a blueprint—your DNA—that is packed identically into each of your trillions of cells. The DNA, along with the RNA that decodes it so your body can manufacture protein and other biomolecules, comprise your genome. Your genome, in turn, is divided into functional chunks called genes. When the blueprint is written properly, you might forget it’s there: You grow four limbs and digest food and produce healthy children and do all the other things our human bodies do. But just as the manuscript of a novel can contain typos that confuse its meaning, misprints in your genome, inherited from your parents or introduced at conception, can give you diseases like diabetes or a predisposition to obesity. For the scientists working with Amelia, finding cures starts with identifying those misprints.
When molecular biologist Joe Vockley, the keeper of Amelia’s genome, started studying genetics 20 years ago, scientists hunted for genetic glitches the way you might use a flashlight to
