Amgen's ($AMGN) deCODE Genetics has released a glimpse of a future in which population-scale genome sequencing forms the basis of drug discovery programs. And while the initiative still has some technical shortcomings and has yet to prove to the outside world it is worth $415 million, it nonetheless sparked excitement in the genomics community.
The glimpse of the future arrived in the form of four papers published in Nature Genetics by deCODE, the Icelandic population-scale sequencing pioneer that Amgen snapped up in a $415 million deal in 2012. DeCODE has been quiet since the buyout, but that changed this week. The four papers cover a wide spectrum of topics relating to deCODE's work, from the IT mastery that enabled researchers to take whole-genome sequencing data from 2,636 Icelanders and infer results for 100,000 others, to the discovery of a trove of potential therapeutic targets.
Prominent geneticists lined up to praise the papers. "This is amazing work, there's no question about it. They've now managed to get more genetic data on a much larger chunk of the population than in any other country in the world," Massachusetts General Hospital's Daniel MacArthur, who played no role in the papers, told the New York Times. The question that remains is whether Amgen can translate exciting science into a pipeline of drugs that allows it to recoup the large--and at the time somewhat controversial--sum of money it paid to acquire deCODE.
Work toward that goal is now underway. DeCODE plans to follow up with the 8% of Icelanders who were identified as having at least one gene knocked out to assess the physiological consequences of their genomic irregularity. And it is also conscious of weaknesses in the current data. Bio-IT World reports the average sequencing read was 125 nucleotides, a length that deCODE knows is unlikely to show structural variations. DeCODE has run Sanger sequencing on poorly covered regions in an attempt to mitigate the shortcoming.