Electronic medical records now exist for millions of people. The data locked within them represent a giant trove that researchers could potentially mine to uncover lifesaving secrets. Now scientists have delved into these records to complete the first large-scale analysis of genetic variants and the medical problems linked with them.
When Wendy Kramer decided to have a child through a sperm donor, she didn’t know she would one day become the biggest advocate for donor-child rights in the United States, or that her son Ryan would be the first person to use his own DNA to find his real father.
It was 1990. Ms. Kramer wanted to conceive a child. So, like tens of thousands of women do each year around the world, she contacted her doctor. After carefully considering her options, she decided to take a donation from a California cryobank.
“Ten years later, I had a donor-conceived child who wanted to know who he was related to,” she says. Looking for answers, she started a Yahoo group in 2000 called the Donor Sibling Registry. “Basically, we were saying, ‘If Ryan wants to know if he has any half brothers and sisters, maybe he’s not the only one.’ Forty thousand people later, it turns out we weren’t the only ones.”
By now, full genome sequencing is old news. What was once a revolution in science and medicine is becoming more and more commonplace. Complete genome sequencing for $1,000 is within sight, and partial scans are available for as little as $100. Yet making sense of all that data—and applying it to advance medical science—is another story.
Identical twins Obi and Malachi Griffith saw the need to unravel and repackage this growing skein of genomic information. The two brothers, experts in using computer science to analyze and organize biological data, recently developed an open-source, online database that matches drugs to the genes with which they interact.
“We’re aiming to be the Google of drug-gene interactions,” says Malachi, who works alongside his brother at the Washington University School of Medicine in St. Louis, one of the largest genome research centers in the world. “This was definitely a ‘necessity is the mother of invention’ situation.”