The third and final installment from The Code, a series of 3 short documentaries on the internet about the origins of genetic medicine, is entitled “Selling the Code.” This is about genetic testing to try to predict risks of diseases, among other things. Doctors use some of this testing in clinical care and a burgeoning amount of research. A number of companies, such as 23andMe, will, for a (not-too-high) price, sequence your genes, or at least some of them, from a cheek swab sample you send, and then give you a report of what the results are and what they might mean. In cases where there is a simple connection between a genetic abnormality and a disease—if you have the gene, you get the disease—the approach can be very helpful. But it’s rarely simple. Even for known cancer-propensity genes like BRCA1 and BRCA2, there are many variants, and what they mean clinically is far from fully known. In fact, for most of the common disease we care about, like heart disease, diabetes, and most cancers, the story is complicated indeed. So what to do with the information is often far from obvious, and careful genetic counseling by a physician who specializes in genetic medicine is a must.
23andMe ran afoul of FDA a couple of years ago, leading to a long process that resulted in FDA acceptance of a more limited menu of testing by the company.
And some companies will sell you “genetic information” for more trivial concerns—presuming to tell you something meaningful about what fitness regimen you should pursue, or what wine you’ll like. Caveat emptor, I suppose, although the risks are low for some of this.
AND—companies like 23andMe keep anonymized data bases of the genetic information they get for and from their customers, and sell that information to drug companies to support the latters’ research. An individual can’t be identified in the process (at least, not readily, see my January 2013 post about “DNA research and (non)anonymity”) but the data in the aggregate is valuable to the genetic sequencing company.
These kinds of concerns—particularly what to do with an individual’s information, but also the usefulness of having genetic data on a large group of people to understand disease and help discover new treatments—are germane to an ongoing project of the Hastings Center to assess the implications of genetic testing of the whole genomes of large numbers of babies, to screen for any of several dozen genetic diseases. Again, most of the babies will be perfectly healthy, and the yield from screening for rare conditions is low. But people arguably have a right to know about themselves, and parents to know about their newborns. Yet still, to what end will we use information that we don’t fully understand? Read a good Los Angeles Times article, that overlaps some of the points in The Code’s video, and provides other useful information in quick-and-easy form, here.
Finally, I was gratified to read that a project to synthesize an entire human genome in the laboratory is being scaled back, at least for now. Apparently, they can’t raise enough money. I bet would-be investors aren’t convinced they could own the results and guarantee a return on their money. I fretted about this in May of 2016 and again in July of the same year. I encourage readers to click through and read those, as well as the concerns raised by Drew Endy of Stanford and Laurie Zoloth of Northwestern, who criticized both the effort in concept and the closed-door, invitation-only meeting at Harvard to plan it.
That was two full years ago. A lot is going on under our noses.