Michael Eisen defends 23andMe against the FDA

The US Food and Drug Administration has asked 23andMe to stop marketing their genetic test product. The company will test your DNA for the presence of several genetic markers that might indicate a predisposition to disease. The FDA is concerned that 23andMe is not doing enough to ensure that its tests are accurate and the advice it gives is medically sound.

Michael Eisen is on the Scientific Advisory Board for 23andme. He responds to the controversy: FDA vs. 23andMe: How do we want genetic testing to be regulated?.

I think some of his points are worth discussing. My position is that the links between certain diseases and certain SNPs are not well-established. The scientific literature on this topic is not all that great and many of the published results have not been repeated. What this means is that private companies like 23andMe are under pressure to be the first to include a new link in their database but may not be exercising the appropriate amount of skepticism.

Furthermore, interpretation of the results can be very difficult. In some cases the results can be traumatic and life-changing. I'm not sure that private, for-profit, companies are the best place to look for competent genetic counseling.

Here's what Michael Eisen says,

3) Is there a role for third parties in helping people interpret their genome sequence?

But few people have the technical savvy to be able to analyze their own genome in this way. So, assuming there is interest, there is a great niche for third parties to step in an provide services to people to help them interpret their own DNA. Is this a bad thing? Again, I don’t see how it is – assuming that these third parties provide accurate information (more on this below).

Should this third party be a doctor, as some (mostly doctors) are arguing? There are certainly doctors out there who have a great grasp of human genetics. But there aren’t a lot of them. And even the doctors who do know the world of human genetics inside and out aren’t in a position to help people navigate every nook and cranny of their genome. This is a job for software, not for people.

If you accept points 1,2 and 3 above – which to me seem inarguable – then you accept the right for companies like 23andme to exist. You might not think they provide a valuable service. You might not think they do a good job at providing these services. But you can’t argue – as many are now doing – that direct-to-consumer genetic testing companies should be shut down.

Here's the problem. I think it might be a good idea to get the sequence of your genome under some circumstances. If you want that information. I think it's likely that private companies will be licensed to do the sequencing in Canada (we have universal, single-payer, healthcare). It doesn't follow that those private companies must also have the right to give out medical advice. To me, that's a recipe for disaster in Canada. Maybe it seems normal in a country where medicine is a for-profit business.

I think we (in Canada) should have professional genetic counselors who are paid by out health care system just like all other medical professionals who give out medical advice. You can consult these genetic counselors if you want advice on what's in your genome and, hopefully, they will provide sound advice. They will not be motivated by profit and they will not be looking over their shoulders at the stock price of the company they work for.

All data will be in public databases—suitably protected from the prying eyes of employers and insurance companies. I trust the government to protect this data more than I trust a private, for-profit, company. I don't expect private companies to share their data and that's a problem.

I don't argue that direct-to-consumer genetic testing companies in Canada should be shut down. I argue that they should become useless when cheap government-licensed sequencing centers are set up and genetic advice is provided for free under our healthcare system. Americans can do it differently if they choose but they should at least recognize that their arguments in favor of for-profit healthcare are not universally admired.

Michael Eisen continues,

If genetics were simple and our understanding of it were complete, companies could provide accurate reports that say “based on your genotype, your age and personal history, you have a 7.42% chance of developing ovarian cancer in the next 10 years”. However, we are far, far, far away from this. We have an incomplete catalog of human genetic variation; known genetic variation can explain only a small fraction of the heritable component of most phenotypes of interest; we have a poor understanding of how different genetic variants interact to affect disease risk or other phenotypes; and we have essentially no capacity to incorporate environmental effects into predictive models. In many cases current, incomplete, data may point to someone having an elevated risk of some disease, when they really have a lower than average risk. And, to top it all off, there are very few cases where knowing your risk status or other phenotype points to genotype-specific actions (with the BRCA status referred to in the FDA letter a notable exception).

The data are, at this point in time, very very messy. I don’t think anyone disagrees with that. The question is what to do about that. On the one side you have people who argue that the data are so messy, of so little practical value, and so prone to misinterpretation by a population poorly trained in modern genetics that we should not allow the information to be disseminated. I am not in this camp. But I do think we have to figure out a way for companies that provide this kind of information to be effectively regulated. The challenge is to come up with a regulatory framework that recognizes the fact that this information is – at least for now – intrinsically fuzzy.

I agree with Michael Eisen that the information will need to be disseminated when it is reliable and when individuals want to know. However, he sets up a false dichotomy when he says, "... we have to figure out a way for companies that provide this kind of information to be effectively regulated." In Canada and most other countries, there's a third way. The information about your genome will not be provided by for-profit companies but by specialist genetic counselors who are part of the universal health care system. They will, of course, be regulated just like all other specialists and physicians but they will not be in the business of making a profit. And they will not be allowed to have anything to do with the private companies that generate the sequence data.

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