What is the fuss over DTC genomic/genetic testing all about anyway? DNA is just a sequence of letters, isn’t it? Lots of people are experiencing angst over the fact that these upstart companies would have the nerve to sequence part of people’s DNA for them. I mean, it’s just a bunch of letters, isn’t it?
Seriously, I have to admit, I, as a molecular biologist, have experienced a degree of self-righteous indignation that these so called entrepreneurs would debase the field of genomics and medical genetics by offering to sequence anybody’s DNA for a price. It seems beneath all of the effort and concern that has been invested in developing the field. All of that hard-earned knowledge being sold off the shelf like a cheap tabloid. That was the feeling, anyway, and I imagine some amount of that type of sentiment contributes to the resistance to the development of the DTC genomics field.
However, the reality is that those letters are attached to a lot of other information that may have health implications. There are several serious genetic diseases (ironically, most discovered prior to the genomic era) whose sufferers (or carriers) traditionally receive genetic counseling to learn how to cope with the situation.
Beyond these known disease situations, the hype of the genomic age has led to lofty expectations for genomics. Those letters are our shorthand for the substance (DNA) that gives us our individuality and which when altered is may give rise to disease, tell us who our relatives are, and potentially make us weller-than-well (if only we can change it a little bit). We’ve bought pretty heavily into the idea that we are our DNA and therefore, revealing it is, in a sense, giving ourselves away. There is an ever-growing body of genomic information that pins many hopes and dreams and futures to those four letters. So, it’s not surprise that feelings run high when it comes to genomic information.
So, DNA/genes/genomics is loaded with expectation, but what’s DNA sequence information really good for when one takes a hard look at it? How is it being used now? We can start with a partial list of uses that have been found for DNA sequence information:
- Disease risk assessment
- Disease diagnosis
- Preconception screening
The fuss that these upstart companies have created has revolved around health information for the most part. That would be the first three items on the above list. These companies are seeking to sell their customers their own DNA sequence information, along with an assortment of linked information regarding the health implications of the DNA sequence in question. It’s the health information being sold along with the sequence information that has caused the kerfuffle with the FDA and the medical profession. And, for some understandable reasons…
Long before we even knew what DNA was, enterprising companies and individuals were taking advantage of our sensitivity around health issues, selling remedies and other noxious (or inert) substances to solve health problems. This profitable, but unethical, behavior was addressed through creation of the FDA, whose job it is to keep the nation’s healthcare resources safe. So, here we have what might be called the modern day version of the snake oil salesmen (at least in the estimation of some): the DTC Genomics companies. Not surprising, then, that the FDA might feel compelled to step in, as it appears they are likely do. Similarly, many in the medical community have allowed as to how they would prefer that their patients not have access to their DNA information. Also not surprising, since for known genetic diseases the medical profession has heretofore controlled this information However, as it currently stands, the genomic profiles being sold by DTC genomic companies are pretty innocuous, so it doesn’t stand to reason to restrict the type of genomic information the DTC companies are selling.
My view is that we stand at a crossroads of sorts. Down one road we regulate human DNA sequencing as a medical procedure, bequeathing control of the resulting information to specialists licensed to dispense that information in carefully predetermined ways. This is a suitable model when the dispensing requires extensive training to avoid injury to the receiving party, as in the case of prescription drugs or cardiac catheters. For genetics in the current information-rich environment and age of patient empowerment, I believe that there are a limited number of situations in which harm would come to a person who knew their own DNA sequence. And, even those cases (e.g. Tay Sachs disease) it is questionable if the actual harm is sufficient to bar access except under carefully controlled conditions.
The other road might be one in which one can obtain the sequence of their genome, if they are so motivated and can afford it. It is likely that reasonable quality services will be available to provide this information soon (currently there are concerns about quality with many of the providers; note to DTC genomics companies: you would do well to pay attention to the quality of your sequencing if you want to survive). The latter three items on the list above would be supported by relatively simple, low hurdle access to sequencing services. In fact, my guess is that FDA regulations or no, in the near future a motivated person will be able to get their genome sequenced. Somewhere.
My concern is what we might lose if we over-regulate DTC genomic testing. The latter three items on the list have emerged in recent years. What else might be added to the list in the future? What uses for DNA sequence data are not on that list?
What is DTC genomic testing good for anyway? I don’t think we know the answer to that question yet. Should we follow the Silicon Valley paradigm, let go of the information, and see what millions of “users” out there do with it? Should we “crowd source” genomics? Maybe there is someone out there with a marketing degree, a penchant for spreadsheets, and the interest in genetics who can offer a creative solution for the problem of missing heritability of SNPs. Maybe a user group will surprise us by producing a creative solution to one or another vexing biology or health problem that has stumped the collective brain power of us professionals? We may not know what DTC genomics is good for unless we give it a chance.