Pfizer links 15 genome sites to depression by digging into 23andMe data

Pfizer ($PFE) has delivered a clear indication of the research potential of 23andMe’s massive genetic database. A team at the Big Pharma dug into the database in search of genetic loci linked to risk of major depression, resulting in the identification of 15 regions of interest.

Traditional genome-wide association studies have, by and large, failed to identify genetic regions that correlate to risk of major depression. The Pfizer study had no more advanced technology than these earlier efforts--23andMe only looks at single-nucleotide polymorphisms (SNPs)--but it did have one major advantage: scale. Ashley Winslow, a former Pfizer researcher who led the project, sees this as what made the difference.

“Everyone is recognizing that this is a numbers problem,” Winslow, who now heads up neurogenetics at the University of Pennsylvania’s Orphan Disease Center, told MIT Technology Review. And, in genetics today, 23andMe is the biggest show in town. “It’s hard if not impossible to get to the numbers that we saw in the 23andMe study.”

The NIH-funded study, details of which were published in Nature Genetics, looked at data on more than 300,000 people in 23andMe’s database, 75,000 of whom self-identified as having been clinically diagnosed with depression. 23andMe gathered the genetic data through the spit kits it sells, before building out its knowledge of the phenotype of each individual through survey questions. This process gave Pfizer an unusually large database to work with.

Having identified loci linked to depression, Pfizer ran further analyses using a replication data set from 23andMe. The replication data set featured 150,000 people, 45,000 of whom said they had been diagnosed with depression. This process led to the identification of 17 SNPs from 15 regions that hit genome-wide significance. Compared with what has gone before in depression, this marks a notable advance. An earlier study of 6,000 people with depression uncovered two areas of interest.

The question now for 23andMe and, particularly, its nascent drug research operation, is whether it can repeat the success in other therapeutic fields and whether the data will act as a launchpad for R&D advances. Some think 23andMe’s approach is unusually well suited to depression, a common disease that is seen as having less of a stigma than conditions such as schizophrenia. If 23andMe’s customers don’t feel comfortable revealing they have a condition, the approach falls down.

- read the paper (sub. req.)
- check out Tech Review’s take
- and NIH’s statement

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