…Some other researchers, however, say that deCODE’s scientific approach is to blame. The company worked to mine genetic data for common variations linked to disease through genome-wide association studies (GWAS), and some experts note that these studies have turned up only a small fraction of the variation that causes disease. “The translation to commercial value is just not very direct,” says [Duke’s David] Goldstein, “in part because it is now clear that GWAS is not the tool of choice for unlocking the genetics of most common diseases.”
…companies that focus exclusively on personal genomics services, such as the one sold by deCODE as deCODEme, might find themselves in more trouble, [Leerink Swann’s Isaac] Ro says. The services are not seen as a medical necessity, diminishing their appeal, particularly in difficult economic times. This year the personal-genomics company 23andMe, based in Mountain View, California, announced two rounds of lay-offs, lost one of its two co-founders and announced a series of product and price restructurings.
“There’s no clinical trial supporting the value of these results, so it’s really recreational genomics,” Ro says. Large academic centres, not consumers, will find value in the rich genetic databases; 23andMe has tried to move into the research market, but because its data come from a self-selected customer population their value is limited, he says.
Here we go, still trotting out the same tired tropes. I agree: GWAS is of limited value and this probably contributed to deCODE’s demise. But whatever deCODE’s fate, if whole human genomes can be sequenced for < $2000, isn’t it about time we stopped kicking GWAS’s ever-stiffening corpse? Second, just because something is not a medical necessity, does it follow that it is worthless? Ask the participants in the REVEAL study or anyone else who’s received an APOE genotype because she WANTED to know. Ask the people who learned something about their hereditary breast cancer risk from 23andMe. Is that recreation? What about abacavir hypersensitivity? And finally: yes, DTC genomics customers are self-selected. So are the 50,000 PatientsLikeMe participants. So are the 10,000 in the Coriell Personalized Medicine Collaborative. So are the 15,000 on the Personal Genome Project waiting list. So are the 400,000 in the UK Biobank. Maybe we should just toss out all of that data, too.