After getting her exome sequenced, IEEE Spectrum's Eliza Strickland is at first a bit disappointed but then changes her mind. Going through Ion Torrent's Jonathan Rothberg and James Lupski at Baylor Medical College, Strickland decides to have her exome sequenced and have medically actionable results returned to her. "I hope I'll get early warnings about problems I may encounter later in life and suggestions on screening regimens or lifestyle changes that can protect me," she writes.
Strickland learned that she did have some genes linked to "scary words" like Parkinson's disease and kidney failure, but the Baylor doctors assured her that she had nothing to currently worry about. She also learned she was a carrier for Usher's syndrome, which is linked to deafness. "The crystal ball has turned up a lot of possibilities, and a few shadowy grim reapers are waving from the murky depths," she writes. "But the results probably won’t change my life in any meaningful way."
But then, Strickland does a little bit more digging and finds that Usher's syndrome is associated not only with deafness, but with night blindness and balance problems — issues that her mother and uncle have had. Her mother, she says, could be further tested and monitored.
When Strickland relates her mild disappointment that she didn't find out much that would lead her to make changes to her lifestyle, Rothberg he tells her that that's the curse of being one of the first. "We're at a tipping point," he adds, "and we're just starting to sequence individuals. So we don't have a lot of information that correlates your sequence with outcome. Right now there's only a handful of genes that we can tell you something about."