Amgen’s deCODE Genetics published four landmark papers built on whole-genome sequence data from more than 100,000 people from across Iceland.
Research groups led by scientists from Amgen’s deCODE Genetics reported data that comprise the largest set of human genome sequenced from a single population in Nature Genetics. Four separate papers published present the most detailed portrait of a population yet assembled using the latest technology for reading DNA.
The project sequenced the genomes of 2,636 Icelanders and identified more than 20 million genetic variants. The researchers found one altered version of the ABCB4 gene to be linked to the risk of developing liver disease, the ABCA7 gene had mutations that were associated with an increased risk of Alzheimer’s disease, and six of the eight ABCA7 mutations detected were also present in other populations with European ancestry, including the US. The team also discovered genetic contributors to atrial fibrillation.
“This work is a demonstration of the unique power sequencing gives us for learning more about the history of our species and for contributing to new means of diagnosing, treating and preventing disease,” said Kari Stefansson, founder and CEO of deCODE and lead author on the papers. “It also shows how a small population such as ours, with the generous participation of the majority of its citizens, can advance science and medicine worldwide. In that sense this is very much more than a molecular national selfie. We’re contributing to important tools for making more accurate diagnostics for rare diseases; finding new risk factors and potential drug targets for disease like Alzheimer’s; and even showing how the Y chromosome, a loner in the paired world of our genome, repairs itself as it passes from father to son. Other countries are now preparing to undertake their own large-scale sequencing projects, and I would tell them the rewards are great.”
In 2013, Amgen paid $415 million for deCODE to identify and validate human disease targets. Understanding the underlying cause of diseases through genomes will allow for personalized therapies.
The company’s work reflects the increase of genetic testing for clinical trial design. Several pharmaceutical manufacturers are developing therapies that target a specific genetic mutation, as well as diagnostic tests to accompany these drugs.
Last updated: 3/26/15; 3:35pm EST