Genetics Is Good Science, But Is It Good Business?

There's been a lot of hoopla lately about the upcoming 10th anniversary of the Human Genome Project. This week, the journal Nature is commemorating the milestone with a special issue. But readers shouldn't be so distracted by the celebratory essays that they miss the concrete discoveries being published alongside them. These, after all, are the reasons to celebrate—making sense of the genome was the whole point of sequencing it. For instance, Nature's sister journal, Nature Genetics, has some impressive content of its own this week, including a paper explaining how malaria jumps back and forth between humans and mosquitoes, a strategy for engineering corn to boost its levels of beta carotene, and a study that offers a new way of understanding how and why cancer risk runs in families.

The appeal of this last paper is subtle at first. The study reveals a genetic mutation that increases a person's risk of a slow-growing type of bladder cancer. It's not the first bladder cancer gene to be discovered, and even people with the faulty version have a low risk, at 6.5 percent. So what's the big deal? For one thing, the science behind the discovery is exciting. To understand it, consider the difference between "germline" mutations (which get passed down from your DNA to your kids') and "somatic" mutations (which occur throughout the body after conception). Somatic mutations are the ones that make a cell turn cancerous. When people say that UV light damages the DNA, that's the kind of damage they're talking about. However, most somatic mutations—and thus most cancers—can't be pinned on an obvious environmental cause. What makes the new paper important is that it offers up a new kind of culprit, not an outside factor such as UV light, but an inside one: a germline mutation. If you inherit the newly discovered genetic flaw from your parents, you're more likely to later develop harmful overactivity in another gene called FGFR3, which in turn leads to cancer. By linking these two different types of mutations, which weren't really thought of as related before, the paper starts to unravel the complex biological network that underlies an all too common disease.

The other thing about this study that caught my eye was in the credits: Many of the paper's authors are from deCODE Genetics, the famously bankrupted Icelandic firm that's now attempting a second act. It's not surprising that deCODE is continuing to make discoveries even after bankruptcy. Back in February, we said the company "almost certainly" would turn up new genes in the near future, assuming its post-collapse restructuring didn't affect its gene-hunting team.

But this paper comes after a couple of challenging weeks for the company. On March 18, The New England Journal of Medicine published a study casting doubt on the usefulness of one type of genetic test that deCODE offers, a screen that's used by doctors to partly assess a woman's risk of breast cancer. (Kari Stefansson, deCODE's founder and chief of research, disputed the way the data was interpreted, but even he said that the tests need improvement.) Two days later, The New York Times took a swing at direct-to-consumer genetic tests such as the company's deCODEme scanning service. The tests haven't been big sellers: as the Times notes, deCODEme apparently found fewer than 10,000 buyers before the company recently doubled the scan's price, essentially ensuring it wouldn't find any more.

Finally, this week came the surprise federal ruling that patents on the breast-cancer genes BRCA1 and BRCA2 are invalid. The ruling throws into question the validity of other patents on genes and the methods used to identify them. If it stands, it could drive the diagnostics and drug industries into disarray—because if you can't patent a gene or the way you found it, how can you make money off it? (On the other hand, to quote our own Sharon Begley, there's an argument that "gene patents, meant to promote research, instead impede it, with no offsetting benefits.") No one quite knows what to make of the ruling yet, especially since for all its 156 pages, it's vaguely worded in crucial parts. But it certainly has Stefansson concerned, given that deCODE has patented both genes and gene-finding processes. "It's a careless verdict. I for the life of me can not believe this is going to be sustainable," he says. (For what it's worth, the defendant in the case, Myriad Genetics, is thinking that way too; it announced Tuesday that it will appeal.)

What does all this mean for deCODE, and for biotech as a whole? It's tempting to read the last few weeks (and deCODE's entire history) as evidence that genetics makes for great basic science and lousy business models, given how many technical and legal roadblocks a company can run into in the course of doing good research. In its story on the Myriad ruling, the Times makes a logical leap from that premise, quoting a venture capitalist who says "the government is going to become the funder for content discovery because it's going to be very hard to justify it outside of academia." The journal Science put it even more bluntly last week, before the ruling came down, arguing that private companies and "the public sector" must work together, with the latter providing long-term funding to keep researchers afloat.

It's an interesting idea, but there's another way to read the last few weeks. Maybe biotech investors—and the rest of us who bought into the hype that genetics would cure all our ills within a decade or so—just need to lower their expectations and stop demanding major progress on a timeline that's too short for science. As the noted biotech expert Geoffrey Chaucer said, "there's no workman, whatsoever he be, that may both work well and hastily." We've learned a lot since the Human Genome Project's completion; it's time we learned this, too.