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.

In her story, Strickland describes how the whole process worked, including important conversations she had with her family before and after the test. Lupski and his team interpreted her results, creating a six-page report of all of the variants in her genome that might be medically relevant. (Baylor told her from the get-go that they wouldn’t be interpreting non-medical variants, such as hair or eye color.) Strickland carries several potentially scary genomic blips, such as those linked to Parkinson’s and kidney failure, but nothing that requires immediate action.

At first, she was disappointed that the findings weren’t more informative. But then she finds something interesting about Usher syndrome, a recessive disease that she’s a carrier for:

Then comes a surprise that casts doubt on my first judgment and forces me to see exome sequencing in a new light. In the weeks following my meeting at Baylor I idly Google the various conditions listed in the report the doctors gave me. One afternoon I type in “Usher syndrome” and follow a link to a National Institutes of Health Web page about the disorder. A few sentences in, I feel a shock of recognition. The syndrome, I read, is associated not just with deafness but also with night blindness and severe balance problems. My mother has been completely unable to see in the dark for as long as she can remember, and both she and her older brother have gotten dangerously wobbly on their feet over the past decade.

There are many bioethicists and researchers who would argue that this information isn’t worth knowing, either, because there is no treatment for Usher syndrome. I totally disagree with this stance (as I’ve argued elsewhere), and I think Strickland’s story shows why even ambiguous or “non-actionable” information can be powerful, assuming you want to hear about it. Strickland’s mother won’t benefit from a treatment, but she now has an explanation for otherwise mysterious symptoms. And if Strickland wanted to have children someday (I’m not sure if she does), her husband could be screened to see if he’s also an Usher carrier.

But most interesting to me is the power of genome scans to help everyday people better understand what their genes do and do not say about their future. As the costs come down, and more and more curious people have experiences like Strickland’s, I think (and hope) that our culture will gradually stop being afraid of the big bad genome. It’s a potentially useful medical tool, like a cholesterol test or cat scan, that may or may not lead to medical insights. But you can’t find out what it means unless you look.