My six-month-old baby has a clogged tear duct. If it doesn’t open up on its own by the time he turns 1, he’ll need surgery. The procedure itself is quick and painless, but the idea of anesthetizing a child so small fills me with terror. Dr. Google tells me there are rare genetic disorders that can be provoked with anesthesia, and most people don’t find about them until it’s too late.
Jay Flatley isn’t most people. As CEO of Illumina, a San Diego-based company that was founded on the principle of figuring out how to unlock the power of the genome and eventually make it an affordable health care standard, he’s had his entire genome – every single strand of his DNA – sequenced. The data showed that he has malignant hyperthermia, a rare condition that can cause patients to die under anesthesia.
Talk about valuable information.
Suddenly, I find myself obsessed with the important discoveries being made through genome sequencing. My son’s clogged tear duct is nothing, of course, compared with the children with rare, previously undiagnosed, life-altering diseases who are now getting the answers – and sometimes treatments – they need through this technology.
“Genome sequencing can and will vastly improve human health from a lot of different angles,” Karen Possemato told me. As the chief of staff at Illumina, she’s even more stoked on genome sequencing than I am.
“Being able to extract an entire genome’s worth of sequence essentially gives you a blueprint of an individual,” she said. “We don’t fully understand that blueprint yet, but that’s the promise of genomics.”