You know you've really stepped in it when Congress decides to investigate your entire industry based on your mistake. That's a privilege usually reserved for embattled CEOs of companies involved in large, public disasters.
Personal genomics is a compelling idea, to be sure. The promise of harnessing research to understand and mitigate disease risk is potentially very exciting. On more than one occasion, our company has taken meetings or consulted with players and key suppliers in this industry. If and when genomics can advance the state of medicine, we're excited to see it play out.
To advance the state of medicine, however, personal genomics must move beyond the phase of repackaging preliminary research as actionable information. It must demonstrate that the results it provides are rigorously demonstrated and appropriate to the purpose for which they are likely to be used.
When and if that happens, we will need to grapple with some thorny and interesting ethical discussions about genetics and democratizing information. Those issues are not, however, applicable to the current situation. What is before Congress now has nothing at all to do with people having access to their personal information and everything to do with establishing and enforcing a minimum quality of information that diagnostic companies are allowed to provide.
In FDA's view, the level of scrutiny a test deserves is roughly matched to the seriousness of choice that will be made based on the test. If your test will be used to determine therapy, screen populations or make a decision to abort a pregnancy, that test will be held to the highest standard of proof. I think we can all understand that. Tests that are used to monitor the progress of a disease might be held to a more moderate standard. Tests that are simple chemistry tests (like a home pregnancy test) might be held to a more minimal standard. Still, all these tests will be held to some standard of proof.
The thing that complicates personal genomics is that these services provide results for an incredibly wide range of conditions. It's difficult to say what harm is done if a consumer is given incorrect or misleading information about their proclivities for developing ear wax or digesting asparagus. If that were all these tests disclosed, there would be little to discuss.
Many services go well beyond this "entertainment" zone to offer information about your risk of being a carrier for CF, your responsiveness to specific drugs like Plavix, or your likelihood of developing kidney disease, diabetes, Parkinson's and any number of cancers. At least one of the major test vendors claims to identify people who show resistance to HIV/AIDS. You might say (as they do) that such information is only provided for "educational" or "entertainment" or "research" use. FDA might point out that the risks of "educating" consumers about their chances of developing lifestyle-influenced diseases are still significant.
This HIV result is a good one to use as an example. There's not a lot of public health benefit to letting someone know they are resistant to HIV, but a whole lot of public health risk involved in potentially mis-informing them of their resistance or the real significance of showing resistance. If FDA were asked to clear such a test as a stand-alone diagnostic, I don't think they could imagine a high enough standard of proof to justify providing this information. The risk/benefit ratio is almost unthinkably high. In the case of personal genomics, however, we are being asked to believe that because this result is only one of a great many results that the standards of proof should be set lower. I don't think that argument passes the straight-face test.
Tests that provide actionable medical information should be held to a high standard of proof. The higher the risk, the higher that standard should be. Balancing these risks correctly for personalized genomics is not necessarily a permanent impasse, but we're still a long way off from getting it right. If your test is good enough to inform big life choices, FDA believes that it should conform to high standards of proof. You're welcome to propose a different way to address risk, but it's going to be difficult to come up with a substantially better one.
Rather than have that discussion, personal genomics firms are, in essence, arguing that their information is of too low a quality to be considered a diagnosis and is therefore exempt from any level of FDA scrutiny. I've never believed that argument would fly longer-term and it's already wearing thin at the seams. This is diagnostic information by just about any reasonable standard. Semantic distinctions are not going to change that.
Call me old-fashioned, but I think that medical information should meet some rigorous standard of proof and quality. As soon as personal genomics companies are willing to show what standard their information can be held to, we can have a real discussion about how such information should be regulated. Until then, I'm inclined to view them as operating on the margins of current law, if not entirely outside it.