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Over-the-Counter Genetics

Genetic testing has been around for decades. Early examples include state-run newborn screening programs, the first of which was for the metabolic disorder phenylketonuria (PKU).  Whether you know it or not, in the first few hours of your life a little heel prick of blood was taken from you and tested for probably a dozen or so diseases, PKU among them. Unlike most genetic tests, newborn screening is a public health program administered population-wide with the justification that identifying early-onset, treatable conditions in newborns is a pressing public health concern. Apart from newborn screening, genetic testing is carried out in a variety of clinical contexts, including carrier screening (for couples planning to conceive), prenatal care (in the early stages of pregnancy), and increasingly for cancer patients to guide treatment strategies.

I won’t give an exhaustive history of genetic testing and its evolution here, as others have already done a good job of that (e.g., here and here). Instead, I’d like to fast-forward to about ten years ago, when a new mode of genetic testing came onto the scene: direct-to-consumer, or “DTC” for short. Previously genetic testing always involved some intermediary — usually a health care provider or perhaps a public health department, as with newborn screening. DTC testing is, as the name implies, directly ordered by the consumer without any physician intermediary. It’s analogous to the difference between prescription and over the counter medications.

What precipitated the rise of DTC genetic testing? My impression is that it was a marriage of the falling costs of genetic technologies with the growing interest in learning about one’s own genome. It was a definite Wild West situation, where the first wave of DTC genetic testing companies were operating with apparently very little regulatory oversight. This initial set of DTC companies had different niches. Some were focused on genetic genealogy and ancestry testing. These are where you would turn if you wanted to know how much Asian ancestry you had, for example, or to trace a paternal genetic line alongside a known surname. Some tests were more health-related, returning your risk for common diseases or for responding to certain medications. Then there were decidedly scammy things like “nutrigenomics” companies (I quote because it seems like such a ridiculous word to me). These guys would tell you your genetic predisposition for needing certain types of vitamins and supplements…and then turn around and offer to sell you those very products. Most of these “nutrigenomics” companies have since fallen by the wayside, and I’m not shedding any tears on their behalf.

But some of the ancestry and health-related DTC genetic companies have stood the test of (albeit a relatively short period) time. The top two contenders these days are 23andMe and Ancestry.com, with about 1 million and 1.5 million customers, respectively. Note I’m glossing over volumes of history and debate and research about DTC genetic testing, including an evolving “regulatory landscape,” to keep the Wild West metaphor going. I’ll likely return to these issues in future posts, or if you can’t wait you can get some excellent coverage here.

Vial of medicine with DNA double helix.
Image Credit: Jane Ades, NHGRI

These two companies have been in the news as of late and both because of health information. First, 23andMe recently changed their service quite significantly where they are once again returning health information (carrier status for 35+ conditions). They’ve also doubled the price from $99 to $199.  They are now the first DTC genetic test to have the FDA’s blessing to return health information, FDA approval being part of the contentious and evolving “regulatory landscape” noted above. And Ancestry.com got some media attention recently due to rumors that they were considering adding some health information to their previously ancestry and genealogically-focused product.

This is the point where I come clean and say that I am a 23andMe customer. I ordered the test in 2012 at a time when it cost $99 and included information on genetic ancestry, drug response, non-health traits (stuff like do you smell asparagus in your pee and does cilantro taste soapy to you), and risk information for ~200 common diseases. When I got the test I wasn’t very vocal about it to my academic and professional colleagues, because many viewed (and still view) DTC testing as a frivolous waste of time and money — especially those in the genetic research and medicine communities.

But I took the leap for a few reasons. First, I’ve got 99 problems a genetic test ain’t one — er, in other words, $99 seemed like a relatively inexpensive gamble. Second, I know from my family history that the likelihood I’d find out something really devastating was quite low. There’s no early onset Alzheimer’s or familiar breast cancer in my family; had there been, I’m not sure I’d want a website to tell me about it while I’m sitting in my fleece pants eating pretzels. Third, I was curious how the site looked, how results were displayed and how probabilities were visualized and explained. Last, the type of genetic data 23andMe produces and bases its interpretations on is the exact same type of data often generated on genetic research participants. (It’s the microarray genotyping technology I mentioned in my previous post.) I work with those data on a daily basis in my research scientist position. I figured if all those research participants were willing to put that type of data on themselves out there, and even in my hands, then it was time I “walked the walk” and had that same type of data generated about me. I recognize DTC is different than traditional research, but it was more about the “stuff” of the data, the technology used and the scope of genetic information produced. It just didn’t seem that scary to me.

On that last point — the “scariness” of it — I was also perplexed at how the genetics community at the time seemed to be putting forth two disparate discourses about DTC genetic testing. On the one hand it was regarded as dangerous, premature, and in need of stricter regulation. On the other hand it was “recreational,” “consumer” genomics and ultimately meaningless. I understand how something could be simultaneously meaningless and dangerous, but nevertheless — I saw some contradiction there and that made me even more curious.

I won’t go into details about my results other than to say that, as for many, it was bit anticlimactic. But also very cool to see that type of information on myself. By “see” I mean literally — in the ancestry component of the test, they produce this visual called “chromosome paintings” where your 23 pairs of chromosomes are laid out and color-coded by genetic ancestry. This is possible because our genomes are mosaics of ancestral populations. Some people have pretty homogenous mosaics – e.g., mostly all Northern European ancestry, in my case – but other chromosomes paintings can look much more like colorful patchwork quilts.

I don’t look at my 23andMe results all that much, and I’ve chosen to opt out of many of the site’s features. For example, you can allow the company to search for your relatives in the company database and allow those people to contact you. For people interested in that, it can be like a virtual family reunion. 23andMe writes about those types of stories in their blogs all the time, but I also know people very close to me who have had these types of experiences. And felt very rewarded and connected by it.

So that’s a quick and dirty overview of DTC genetic testing with a little peppering of personal experience. If you’re related to me and tried to email me on 23andMe, I’m sorry – but I just turned all that stuff off, nothing personal! 🙂


5 Comments

  1. […] jargon in other areas.  Including science. Genetics is a great one for jargon: DNA, WGS, SNP*. As genetic information becomes more widely available to non-genetics experts, the barriers to understanding put up by terminology become even more problematic. Or do […]

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