Genomes for the Curious

So jealous: Science journalist Eliza Strickland not only had her genome sequenced but she got to write a long feature about the experience. Her story just came out in IEEE Spectrum and I’d highly recommend giving it a read. It includes a mini-profile of Jonathan Rothberg, the CEO of DNA sequencing company Ion Torrent and one of the biggest names in genetics. But Strickland’s personal story is what really drives the narrative. (Spoiler alert: This post will mention highlights of her story, so go read it first if you want to be surprised.)Strickland went to the commercial sequencing lab of Baylor College of Medicine in Houston. Doctors from all over the country have sent samples of their patients’ blood to Baylor for exome sequencing. (The exome includes all of the sections of the genome that code for proteins. It’s only a fraction of the whole genome, but the only part that scientists know how to interpret, for now). The test costs $7,000 and requires a doctor’s referral.Strickland writes that she was Baylor’s first “merely curious” patient, meaning that she didn’t have anything wrong with her. She just wanted to look at her potential risks. Technically, she told me, she was referred by a doctor, Baylor’s own Jim Lupski, an MD/PhD. So does that mean Baylor is taking orders from the merely curious? Yep, pretty much. “If you had a family doctor who was on board with a curiosity-driven exome scan, you could get it done. I don’t believe Baylor would raise any objections,” she says.Read more at...Only Human, February 2013.