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.
The DNA Exchange 
I am involved in testing APOE in children-specifically teenage athletes who have suffered concussion. The American Academy of Neurology in March 2013 felt that there was sufficient evidence of the role of APOE4 contributing to multiple concussions and poorer outcome safter concussion that physicians should consider APOE test results as a risk factor when determining the return to play strategy for athletes who have had multiple concussions. I have observed the direct correlation between APOE4 status and kids who are still not fully functional as long as 2 months after suffering a concussion due to contact sport. The parents are minimally concerned about Alzheimer’s- they have some discrimination questions, but usually they just want to know if there is a genetic contribution to why their child isn’t recovering from head injury like their peers. To date all the data is retrospective. There are no studies to suggest what the risk of concussion or poor recovery after a concussion are for 5 year old girls who have yet to engage in contact sports. But I can tell you that it is likely that the physicians and parents I have worked with would strongly suggest that if this girl shows a love of competitive sports participation at the age where sports start getting serious and aggressive, it would be in her best interest to pick something that has a reduced chance of concussion. Run or play golf- avoid football, soccer, lacrosse, hockey and martial arts. So maybe this mom did catch something useful and preventative after all; if she is educated about it.
As to Trish’s comment, with the heightened interest around the NFL and others about the long-term brain effects/liabilities of contact sports, this potential puzzle link between APOE4, concussion, and Alzheimer disease is very interesting. No doubt someone is picking up the research thread here. Might poor recovery from concussion be an early marker of risk for developing Alzheimer’s? (Or teasing out the cause-and-effect, might the concussions heighten risk for Alzheimer’s? Although I would suspect that the incidence of Alzheimer’s among APOE4 carriers extends beyond those who have suffered concussions, if anyone has gathered these data.) This isn’t my field of focus, so forgive me if this is all well known/studied.
Trish,
I am very interested in your comments linking ApoE 4 and post-concussion syndrome (or variable recovery times). Is this published data? Would loe to read more about it. Thanks for your comment. Laura
I’m pretty horrified that this mother decided to over-ride her child’s autonomy like that and order testing. Yes, there ‘might’ be benefits, but what about first do no harm?
I’d be furious if my parents had done that to me and I’d grown up knowing I was at a risk for x,y or z without making my own choice whetehr to know or not.
I prefer “knowledge is power” over “ignorance is bliss”.
I do Stephen- I prefer to make my own decisions about knoweldge though, and not necessarily have my parents know something and decide whetehr or not to disclose it to me and how.
Yes, there are a numbers of published studies about the link between APOE4 and concussions, as well as other pediatric traumatic brain injury (TBI), and there is quite a bit of research going on in this area. One representative article that gets cited quite a bit for athletes is a retrospective study from 2010 Clin J Sport Med. 2010 Nov;20(6):464-8. This is just one of many. The guidelines I cited are here: http://www.neurology.org/content/80/24/2250.long
Oh the much-maligned APOE4. We know so little– yet it’s become quite the easy target and catch-all.