DTC Genomics: Opportunity Lost?

Eric Schuur

Once I warmed up to the idea of startup companies offering to sequence the DNA of anyone capable of ordering from Amazon.com, I began to look forward to what might come of this nascent industry. Enabling individuals to have their DNA sequenced certainly seemed like an out-of-the-box idea at the time and I wondered if a so-called paradigm shift might arise from placing genetic information, unfiltered and unadvised, in the hands of its owner.

I had(and still have) two chief hopes for "paradigm shifts" that might come from throwing the genetics box wide open:

Breaking the “chain of command” on health information by handing out genetic information might help change how we think about healthcare. The initial response from the medical world to the DTC genomics industry was less than enthusiastic, ostensibly because of the potential for harm when the uninformed masses got their hands on their gene sequences. This turns out not to be true—there is no evidence of harm from accessing one’s own DNA sequence information. Furthermore, there has been neither a flood of buyers nor a spate of lawsuits. The collective yawn over the availability of DNA sequencing (initial excitement not withstanding) suggests that DTC genomics as practiced now might be more of a baby step along the way than a giant leap.

Putting this information in the hands of all who wish to know will help change how we think about genes. We have become quite genocentric, attributing an out-sized weight to the role of genes in biology. We call genes the “blueprints of life” and consider them an identifiable “first cause” that drives everything else in the living world. "We are our genes" in this view. The way I think of it genes are a part of a system we call an “organism” and they are no more or any less important than proteins, carbohydrates, etc that comprise that organism. Prior to our genetic era, an abundance of great research was done on biochemistry and metabolism, illustrating their roles in cellular phenotype. We seem to have forgotten a lot of that research, but it may be resurfacing as the 'omics era reaches beyond genes. I'm confident that balance will return.

My hope with the emergence of the DTC genomics industry is that crowdsourcing genetic research might provide new direction and new ideas on its role in health and society. Might we get really novel answers to thorny genetics questions such as “what happens to missing heritability and is it important anyway?” Might it also be enough of a nudge to permanently put the paternalistic relationship between physicians and patients in the past? Might the DTC genomics industry help us reach a more sophisticated view of the role of DNA in living organisms more quickly?

For the moment at least, it appears that time is taking the wind out of the sails of the industry. As evidence, here are some recent developments:

-Over the summer Navigenics was bought by Life Technologies, Inc. Gone was an industry pioneer.

-This fall, deCODE was bought by Amgen. Not a surprising end to deCODE’s rocky road, but gone is another industry pioneer.

-Recent developments announced by 23 and Me (patent received, grants funded, seeking FDA approval for products) sound suspiciously conventional. Has 23 and Me lost its will to break the mold?

Will there be a DTC genomics industry 2.0? The failure of pioneering companies in any new industry is not unusual. Will these shifts will still happen? I'm hopeful that new entrants will pick up the banner. It seems likely, though, that it will be new companies to move the field forward and that (as usual) it will take longer than it initially seemed it would.