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Personal Discoveries involving Exome Sequencing
The test has been commercially available for less than three years, and doctors say it still doesn't offer definitive information for most patients with genetic disorders. The largest published study, by scientists at Baylor College of Medicine in Houston, found diagnoses a quarter of the time, though the success rate appears to be rising. Data analysis takes three to four months, and the test is so new there is no insurance billing code and often no coverage for the average $7,000 cost — even though insurers may pay more for a series of smaller genetic tests and potentially ineffective therapies.
Bertrand was born seemingly healthy in 2007 in Georgia, where his parents, Matt and Cristina Might, were in graduate school. But by the time he was 6 months old, they couldn’t help but notice that he couldn’t yet crawl. He also was doing what they began to call jiggling, almost never stopping the odd motions, particularly with his hands.
By then, the young family had moved to Salt Lake City, where Matt Might had a new job as an assistant professor of computer science at the University of Utah. Cristina Might had an MBA and had been running two small startup companies. Bertrand’s problems, though, meant that she quickly became a full-time caregiver and advocate for her son.
Savannah Salazar went to bed one night in 1995 as a typical toddler. At two and a half years old, she could count to three and knew most of her colors, although she still mixed up black and brown. As far as her parents could see, she was developing pretty much the same way her four-year-old brother had.
And then, in the middle of that night, everything changed. Her parents, Ruben Salazar and Tracy Dixon-Salazar (who is now Dr. Dixon-Salazar), awoke to a sound every parent dreads: their daughter was choking. “She was gagging, hacking, and making frothing noises,” Dr. Dixon-Salazar recalls. “I thought my child was dying. By the time the paramedics came, Savannah was okay. But I’ll never forget what one of them said next: ‘Her airway is clear, but what you’ve just described sounds like a seizure.’
At 6 months old, the signs of Shay Emma Hammer's epilepsy were subtle - eye blinks and tremors in her tiny hands. She missed developmental milestones - rolling over, sitting up, crawling, walking.
An EEG, which measures the brain's electrical activity, showed what her parents and her doctor already knew. She was having epileptic seizures. But, as is often the case with infant-onset epilepsy, her symptoms and development fit no known pattern. Her disease couldn't be given a name or a cause.
Hugh Rienhoff says that his nine-year-old daughter, Bea, is “a fire cracker”, “a tomboy” and “a very sassy, impudent girl”. But in a forthcoming research paper, he uses rather different terms, describing her hypertelorism (wide spacing between the eyes) and bifid uvula (a cleft in the tissue that hangs from the back of the palate). Both are probably features of a genetic syndrome that Rienhoff has obsessed over since soon after Bea’s birth in 2003. Unable to put on much muscle mass, Bea wears braces on her skinny legs to steady her on her curled feet. She is otherwise healthy, but Rienhoff has long worried that his daughter’s condition might come with serious heart problems.
Precision Medicine in the News
See below for exciting articles related to EGI, genetic testing in neurological disorders, and how exome sequencing is slowly but surely revolutionizing the practice of medicine.