Most of you probably know that Congress, aided and abetted by the Government Accountability Office, came down on consumer genomics companies like a ton of bricks yesterday. I am still sifting through the rubble, but here are some thoughts, questions, Friday morning quarterbacking, and a few provocations:
- Standards. In the course of writing my book, I learned that, for a time, 23andMe, deCODEme and Navigenics (aka The Big Three) were having discussions in an effort to hammer out standards for their services. For whatever reason, those talks fell apart. They are paying the price for that today. The publication of David Ewing Duncan’s genome scan results and the Ng paper, both of which described discrepancies among the companies’ interpretations, were two huge red flags and should have led to 1) a meeting of the minds with a big tent full of experts to try to reach a consensus on interpretation for things like prostate cancer and hypertension; 2) removal of those conditions from their services in favor of, say, clearly useful and less contested things like carrier screening and pharmacogenomics; or 3) a serious downgrade of those results to “provisional” or “preliminary” status. The companies have no one to blame but themselves for these discrepancies, which, in my view, are the most damning aspect of the report and could have been avoided. I would urge them to pursue at least one of the three aforementioned options and get their ducks in a row. Come on y’all: if the oil companies can do it, so can you.
- Ethnicity. Most human genetics research has been done on persons of European ancestry. Genomes of African origin, for example, tend to be more diverse. Thus, with fewer markers typed, consumer genomics test results are apt to be of less value to persons not of European descent. I reckon the companies might have mitigated this criticism by more prominent disclosure of this limitation. Over the longer term, however, the companies are in a position to address this problem–and it is a problem, especially with respect to health disparities–by filling the data gap. We know they can do research, so instead of going to Davos, why not go to Oakland or Tijuana?
- Who are these companies? Dear GAO, if the goal is transparency, I don’t understand why you cannot name names (pdf). Why be coy? FWIW, here are my guesses: “Company 1″ = 23andMe; “Company 2″ = deCODEme; “Company 3″ = Pathway Genomics; Company 4 = Navigenics. I won’t bore you with my reasoning and I could be wrong, but again, why make us guess? (UPDATE: 23andMe confirms my guesses.)
- Surreptitious testing. Companies: don’t do it. You can sell the spit kit, but no surprise parties.
- The word “diagnostic.” Companies: don’t use it unless you mean it and can prove it. Otherwise you will give Jim Evans a coronary and that would make me sad.
- “You’d be in the high risk of pretty much getting it,” is how a representative responded when our fictitious consumer asked if results indicating she was at above average risk for breast cancer meant she’s definitely getting the disease (see video). If a Navigenics counselor said this when discussing a woman’s risk for non-BRCA1 or BRCA2 breast cancer, then yeah, that’s “horrifying.” But for the sake of completeness, I would like to know the full context of the conversation. What was the quoted risk percentage on the fictitious customer’s profile that would have led her to such a conclusion? I bring this up for two reasons: 1) we’ve seen recently exactly how important such context is with respect to audio-visual evidence, especially when one’s accuser has an axe to grind; and 2) when I had my counseling session with Navigenics, the counselor and I spent much of the time discussing my family history of breast cancer and the possibility I carry a BRCA1 or BRCA2 mutation, despite the fact that Navi doesn’t test for those mutations. But just because the company doesn’t test for it doesn’t mean we can’t talk about it. These mutations are highly penetrant, i.e., they confer high risk to carriers. Could it be that the counselor was discussing familial breast cancer and not the Navigenics assay? Maybe not, but I would like to hear more of the phone conversation rather than just a brief video with leading statements in the titles.
- Baby meet bathwater. “The test results we received are misleading and of little or no practical use to consumers.” The GAO is entitled to its opinion. Clearly there are issues with these tests. But I found that learning my carrier status for a number of diseases, risk for late-onset Alzheimer’s, and genetic responses to a number of drugs to be useful. I found the ancestry information to be interesting and entertaining. Would I have paid $1000? No. $99? Yes. More than that? It depends on what I’d be getting. That’s why the GAO’s failure to distinguish among the companies, their pricing structures and their offerings is so unfortunate. The net result does not allow for any nuance whatsoever. Rather, if one accepts the GAO’s conclusions, there seems to be room for only one response: “Off with their heads.” If that’s the case, then consumer genomics will be driven underground and/or overseas. In my view, that would be a shame.
We saw a very similar hearing — with the same undercover M.O. and public perp walk — in 2006. Were/are some companies behaving badly? Absolutely. And they should be called on the carpet. But let’s not kid ourselves: this dog and pony show was as much an opportunity for chest beating and righteous indignation as it was for “protecting the public health.” It was an opportunity for politicians to scream “snake oil” and fret about the possibility of their constituents “jumping off a building” as much as it was an attempt to bring about constructive change to a nascent industry’s practices. Why is that? Why is the demand for data never made of the alarmists? Why do the companies not get to see the GAO’s report ahead of time? Why did the FDA exhibit a genuine spirit of open inquiry and invite a broad range of stakeholders to its meeting while Congress could not be bothered to do the same? Why does the outcome of such hearings always seem to be a foregone conclusion?
What game is that exactly?