Imagine setting out to create a database so vast that a printout would fill about 80 times more books than are held in the U.S. Library of Congress. That’s the amount of data contained in the 500,000 genomes being sequenced through the Whole Genome Sequencing project. Given its size and scale, multiple entities came together in a partnership to make this a reality, including the UK Biobank, UK Research and Innovation, Wellcome Trust, Amgen and several other corporate partners. The Whole Genome Sequencing project will be game-changing by making large-scale whole genome sequence data available to the global scientific community.
Supported for over 16 years with public and charity funding, the UK Biobank has already created a uniquely rich data resource that is fully anonymized and protected. The biological samples stored in the collection have been genotyped – a process for skimming a person’s DNA for up to a million genetic markers linked to various physical and behavioral traits and disease risk. Sequencing, which captures all six billion DNA letters that form our genetic code, will provide deeper insights into why some people develop particular diseases and others do not. It may also hold the key to predicting and preventing many life-changing diseases and lead to more precise treatments tailored to the genetic makeup of individuals.
The in-depth genetic data will be accompanied by health data from the 500,000 volunteer participants in the UK Biobank. Building on the work of the Medical Research Council-funded pilot program at the Wellcome Sanger Institute, which is sequencing 10% of the 500,000 UK Biobank participants, the plan is to complete the remaining sequencing of 450,000 participants in two segments. These data can be analyzed in search of important links between genetic variation and disease risk, leading to better ways to understand, diagnose, treat and prevent life-changing illnesses.
Amgen’s participation in this project further exemplifies the company’s commitment to genetics. It builds upon the recent ground-breaking collaboration announced by deCODE Genetics (an Amgen subsidiary) and Intermountain Healthcare, which will genotype 500,000 people and whole genome sequence 100,000 from Intermountain’s patient population, which are based primarily in Utah and Idaho.
“We are pleased to partner on a project with immense potential to advance public health. This collaboration, combined with our other genetics related collaborations, like with Intermountain Health, reflects our belief in the power of human genetics to transform medicine and the need for continued growth in the size and diversity of the data that can be mined for new discoveries for patients with serious life-threatening diseases,” said David M. Reese, M.D., executive vice president of Research and Development at Amgen.
The scale of this sequencing program presents unique technical challenges in storing and analyzing such vast amounts of data, which includes not only genetic data, but other detailed clinical and lifestyle data for each participant in the UK Biobank program. deCODE, with world-class expertise and experience, was selected to participate as one of the two whole genome sequencing providers, along with the Wellcome Sanger Institute.
“deCODE is taking human genetic research to a new level, applying the methods we pioneered in Iceland to lead a worldwide search for disease genes,” said Kari Stefansson, CEO of deCODE Genetics, a wholly-owned subsidiary of Amgen. “As drug development programs backed by genetics are twice as likely to succeed, the data sequenced and analyzed through this collaboration will be essential to help the broader scientific community identify and validate promising drug targets for some of the most challenging diseases patients face.”
Hear from Kari Stefansson, founder of Amgen’s subsidiary deCODE in Iceland, about the role deCODE will play in the UK Biobank Whole Genome Sequencing project.
deCODE developed the research paradigm of linking variations in DNA sequence data to health data stored in medical records. deCODE also developed novel methodologies to leverage Iceland’s genealogical records to impute additional data by tracking the genes that travel together among blood relatives. These approaches have been used to discover genes linked to Alzheimer’s disease, schizophrenia, various cancers and heart disease. Under Amgen, deCODE has greatly expanded the size and reach of its gene discovery engine beyond Iceland to include genetic/phenotypic data from approximately 1.6 million participants through collaborations around the world.
The first tranche of sequence data is expected to comprise about 125,000 sequences and is anticipated to be accessible to all researchers in Spring 2021. The expectation is that sequence data for all 500,000 UK Biobank participants would become generally accessible by early 2023.
Funding for the £200M ($256M) project comes from the government’s research and innovation agency, UK Research and Innovation (UKRI), with £50m through the Industrial Strategy Challenge Fund, £50m from Wellcome and a further £100m in total from Amgen, AstraZeneca, GlaxoSmithKline (GSK) and Johnson & Johnson1.
- Contract entered by Janssen Biotech Inc., one of the Pharmaceutical Companies of Johnson & Johnson; collaboration facilitated by the Johnson & Johnson EMEA Innovation center in London, UK