Once, when out fishing for flounder, my mother caught a shark.
That story arose in my mind yesterday, as I was reading an article published in FastCompany by a science writer working under a pseudonym. The writer (who calls herself Elizabeth, so let’s go with that) has a five-year-old daughter adopted from Ethiopia. Her editor suggests that she do a piece 23andMe from the point of view of a mother considering testing her own little girl. As for the decision about whether or not to test – that was up to her.
But it’s a better story if you do the test, right? An even better story if you find out something interesting. Which is not so likely, since the experts you contact are telling you that most of what 23andMe has to offer is not clinically significant. A few things that are meaningful, a few things you might not want to know… but Anne Wojcicki, founder of 23andMe, says it is a parent’s duty to arm herself with her child’s genetic blueprint. Ultimately, Elizabeth says, she finds the ‘knowledge is power’ argument persuasive.
So, anyway the kid turns out to be a ApoE 4 homozygote. 23andMe quotes a 55% chance of ApoE 4 homozygotes being diagnosed with Alzheimers between the ages of 65 and 79.
I spoke with Elizabeth while she was writing the article, but before the test results came back. “Do you judge me for having my daughter tested,” she asked? I said no at the time – and for the record, I stick with that. We were talking then about privacy and confidentiality issues, and in that context I have concerns about the DTC industry in general and 23andMe in particular, but I can completely understand the desire of a mother raising her child without access to any medical or family history to get whatever information she can. We talked about the limitations of SNP data on common disease. This wasn’t a genetic counseling session, but I am a genetic counselor, and I am extremely regretful that I didn’t think to discuss ApoE, and perhaps urge her not to unlock that box.
Elizabeth spends the last third of the article grappling with the downstream issues that follow from that significant result. She acknowledges difficult decisions they will face around when and if to tell the child. “Never!” suggests a psychologist friend of mine with whom I share this story. But in my experience information finds it’s way out, no matter how deeply buried, as if knowledge were a seed searching for the sun. And in this case it is only shallowly interred – after all, she has shared her story in print. The pseudonym makes it more private, but won’t the ruse – and the reason — be an open secret among her close friends and family?
Interesting to me that 23andMe publicized this story, tweeting about it yesterday morning:
I would have thought this particular personal journey represented something of a worst-case scenario for them. Judging by reactions among my friends (not very scientific, I know) it was not a great advertisement for their product. But then, I do them a disservice to suggest that they are simply marketers. No question, the folks at 23andMe are true believers. Emily Drabant, a neuroscientist at 23andMe, tells Elizabeth that their database will help pharma locate people with her daughter’s geneotype who don’t get sick, so they can uncover the reasons why some people stay healthy despite their genetic predisposition.
Wherever you stand on DTC, it is easy to see Elizabeth’s story as a parable. For enthusiasts like Wojcicki, it is a tale about embracing the power of information as a call to action and an opportunity for intervention. For haters, it is a harbinger of exactly the type of harm they picture when they think about DTC: inappropriate testing of minors, lack of pre-test counseling (that one makes my stomach hurt), post-test distress. For me, having planted my standard awkwardly in the muddy soil of ambivalence, I see it as further evidence that DTC is a decent option only for a select few, and should not be mistaken for a new world order.
Here is the model set forth in this article: mother tests child, discovers disturbing information, goes on a mission to find out what it means and – hopefully – how to use what she has learned to her kid’s advantage. This makes for a lovely read (it’s actually a very good article: balanced, well-written, funny at times). But it’s important to note that to the extent something good comes out of this, it is because Elizabeth has access to resources and information beyond the factually accurate but necessarily limited and impersonal explanation on the 23andMe website. “Our daughter is going to get Alzheimers,” she wails to her husband, after ‘blundering past the notes of caution’ to unlock her results. Next steps for a science writer doing a feature on 23andMe? First, a personal conversation with Anne Wojcicki, who cancels her next appointment when she hears about the ApoE finding. Discussions with Drabant, the neuroscientist. Discussions with geneticist Ricki Lewis, and with Bob Green up at Harvard, who spearheaded the REVEAL study that investigated the impact of receiving ApoE results on individuals and family members. A conversation with Jennifer Wagner, a lawyer specializing in issues related to genetics and genetic discrimination. We cannot hypothesize that this is the experience of the average consumer. Wojcicki and the legion of science bloggers who can’t understand why everyone doesn’t want to test their children should consider the likely experience of a parent receiving this result with no more resources than Google and a distant memory of high school biology.
Ultimately, we are informed, Elizabeth comes to terms with the good and bad of genetic testing for her child. “I choose to think of this as a potentially beautiful new world opening up for her–but one that requires an extraordinarily thoughtful bravery from all of us.” Even so, she notes that the “best advice” she got was to “burn that damn report and never think of it again.” Despite the positive rhetoric, her enthusiasm for that advice suggests she learned something she would in retrospect choose not to know. Elizabeth went fishing for flounder, and caught a shark. At least my mother could throw her fish back.