There has been a lot of election “post-mortem” talk about living in bubbles. Urban bubbles, academic elite bubbles, blue state bubbles — all out of touch with and perhaps at times dismissive of rural America, no college degree America, red state America. [For a concise articulation of the problem, see November 8th New York Times editorial here.] I am likely guilty of all those bubble accusations: I live in Seattle so, blue state — check, urban center — check (though granted I grew up in Tennessee!). I have a Master’s degree and am pursuing a PhD. My graduate studies are in genomics, and in particular consumer genomic testing. Are my academic interests and pursuits elitist and out of touch with reality? Perhaps. But not entirely. Let me defend why.
Genomics in a bubble: the prosecution
First, why is genomics in general part of the bubble? An illustrative moment came during a talk I heard at the American Society of Human Genetics (ASHG) Annual Meeting back in October. I attend ASHG regularly and it is typically populated, as you would expect, with genomics cheerleaders (imagine the cognitive dissonance of devoting your career to something you don’t believe is important). But this particular presentation was about trying to implement genetic testing in low resource settings, specifically at Federally Qualified Health Centers. In the study being presented, providers at FQHCs described the challenges of using genetic information to guide care of patients with so many more pressing needs and problems: job, food, and housing insecurity among them. Genetics — in particular mildly predictive genetics that only influences complex disease risk by a smidgen up or down — does and should take a back seat when people are in need of food, shelter, and employment.
Genetics in the clinic aside, direct-to-consumer (DTC) genetic testing may be in even a more bubblier bubble. Indeed, empirical studies of DTC users have found them to be more white, more educated, and older than the average adult in the US. It is a luxury to have one or two hundred dollars kicking around that you can use to send off for your 23andMe or Ancestry DNA spit kit. It’s sometimes called “recreational” genomics for a good reason: people are often doing it for fun, or maybe even because someone gave it to them as a gift, and so why not. It’s also a luxury to have the free time to sit down at your computer and pour through your results on the company website and an even greater luxury to have the time to download your “raw” genotype data and poke around with it in third party interpretation websites (the specific area of my dissertation research). Yes, this is probably not your average person.
Genomics in a bubble: the defense
So we’ve established that it is probably not your average person who spends their time and money on DTC genetic testing and subsequent self-directed analysis in third party interpretation systems. But who is this person? What types of people are doing this and why? What are they doing with the information they get back and with what consequences? I’m trying to understand just that. To characterize this pursuit, however bubble-wrapped these people and these experiences may be.
My defense is that I do think this type of endeavor extends beyond just consumer genomics, and by understanding it better we can apply those insights to other types of pursuits. People, regardless of location, income, education, political leanings, etc., are typically engaged in some type of search: for personal and/or familial identity, for meaning, for connection with others, for health and wellness. Not everyone turns to their genetics for this, but people do turn to or seek out something. I think the dynamics of consumer genomics may well apply to these other areas. What motivates people, how do they satisfy those motivations, and what do they do with the result. That’s why I’ve chosen this area of research that I hope extends beyond the narrowly scoped instance of consumer genetics.
Genomics back in the bubble: precision medicine
Note I’ve been focusing on consumer genomics here, as that’s the subject of my dissertation research, but I do want to mention another hugely important, bubble-relevant application of genomics: genomics in clinical care, sometimes called “precision” or “personalized” medicine. As do many people, I fear that the integration of genomics in medicine may further widen existing disparities in access to prevention, care, and treatment in our health care system. That is, like many other medical technologies and knowledge, people with more education, higher SES, and better insurance are more likely to have access. Many genetic tests are not even currently covered by health insurance (it varies widely based on context, type of test, and insurer), meaning those who benefit are those who can pay out of pocket. Indeed, given limited resources and more pressing needs, genetics takes a deserved back seat, as we were reminded of by the ASHG presentation described above.
Carving out my corner of inquiry
So yes, I realize my doctoral work may be esoteric at times — narrow in focus at best and myopic at worst. But dissertation projects typically do (and must) carve out some narrow area of inquiry that may, on the face of it, be of concern to no one else but the student and their committee (and perhaps not even every member of the latter!). Part of that is just so we have a contained and sufficiently scoped project to complete in a few years. But we typically hope and strive to have broader relevance, to pierce the bubble and bring some goodness and understanding to others. And of course to take this time to listen and learn from those with different backgrounds, experiences, and interests. Including those who don’t buy that studying consumer genomics could ever teach us anything of real importance. Though I would hope to prove them wrong.