Amgen's deCODE genetics Publishes Largest Human Genome Population Study
March 26, 2015
By Mark Terry, BioSpace.com Breaking News Staff
deCODE genetics, Inc., a division of Thousand Oaks, Calif.-based Amgen , announced yesterday that it had sequenced the genomes of 2,636 people from Iceland. They then culled data from genealogical records and other genetic sources to project the genetics of 101,584 more. The studies were published yesterday on the online version of Nature Genetics.
There were a total of four studies, titled “Large-scale whole-genome sequencing of the Icelandic population,” “Identification of a large set of rare complete human knockouts,” “The Y-chromosome point mutation rate in humans” and “Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease.”
“This work is a demonstration of the unique power sequencing gives us for learning more about the history of our species,” said Kari Stefansson, founder and chief executive officer of deCode and one of the lead authors in a statement, “and for contributing to new means of diagnosing, treating and preventing disease.”
The scale and ambition of the study is impressive, but perhaps more important, the research identified a new genetic variant that increases the risk of Alzheimer’s disease. It also confirmed variants that increase the risk of diabetes and a variant that results in atrial fibrillation.
“It’s certainly an impressive tour de force,” said George Yancopoulos, chief scientific officer of Tarrytown, N.Y.-based Regeneron Pharmaceuticals, Inc. in a statement. “This is certainly establishing a benchmark for all of us and showing the value of this type of analysis, in particular in the Icelandic population.”
Regeneron is developing its own sequencing information database with Geisinger Health Systems in Pennsylvania. In addition, the U.K. is working on a 100,000 Genomes Project.
The discoveries of genetic variants have possibilities for new diagnostic testing, but also may give biopharma researchers new avenues for drug development, by testing compounds that block or interrupt the pathways linked to the newly discovered variants. The hope is that as more and more of these massive population databases are created, even more opportunities for drugs and tests will be identified.
“I can speak in all hope that some fraction of those genes will also lead to more drug targets,” said Daniel MacArthur, group lead of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital in a statement. “It’s a taste of what we can do with even bigger and more diverse populations.”
Amgen acquired Reykjavik-Iceland-based deCode two years ago for $415 million. As a result of the findings in these studies, deCode has backed off some programs and increased focus on others.
“Our organization is a source of answers to complicated questions about the cause of disease,” said Stefansson in a statement. “The next big initiative in health care in the western parts of the world is going to come through the use of genetics. You can basically trace all human diversity, the risk of disease and the response to treatment.”
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