Big biopharmas unite to sequence 500,000 exomes

Regeneron expects to wrap up the work by the end of 2019.

Regeneron is spearheading a precompetitive exome sequencing project with the support of a clutch of leading drug developers. The project will see Regeneron sequence the exomes of 500,000 British people with the financial backing of AbbVie, Alnylam, AstraZeneca, Biogen and Pfizer.

Tarrytown, New York-based Regeneron is performing the sequencing. The UK Biobank is providing samples from its 500,000 volunteers. And the other drug companies involved in the consortium are chipping in $10 million each to bankroll the work.

Regeneron said more companies are considering joining the consortium. Commitments of $10 million from additional companies would move the consortium’s pooled money closer to the $100 million or so it will cost to sequence the exomes. 


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Even without those additional commitments, Regeneron has set itself an aggressive timeline for the sequencing. Regeneron expects to wrap up the work by the end of 2019. Consortium members will then have exclusive access to the data for up to a year, beyond which they will make the resource available to other researchers.

Importantly, the sequencing data will be paired to medical records and medical images taken for use by the Biobank. Regeneron thinks the result is a dataset that stands apart from other large-scale sequencing efforts. 

“There is no other near-term big data set that can do anything like this," Regeneron CSO George Yancopoulos told Forbes. 

RELATED: Regeneron to sequence 100K exomes and link data to EHRs to speed drug discovery

The formation of the consortium marks a shift in strategy for Regeneron. The biotech first unveiled its relationship with the UK Biobank last year, at which time it was working with GlaxoSmithKline to sequence 50,000 samples. That initial drive finished as planned at the end of 2017. But rather than forge ahead with plans to sequence the remaining 450,000 samples over the following three to five years—a less aggressive timeline than the consortium’s—the partners have gone their separate ways.

The reasons for the split are unclear but GSK retains an interest in sequencing the Biobank samples. Late last year it committed £40 million ($54 million) to “support the sequencing of data from all 500,000 volunteer participants.” Talking to Forbes, the chief executive of the Biobank said the organization is working with GSK to perform whole-genome sequencing at a later date.

Such sequencing will provide information about parts of the genome that don’t code for proteins. These regions can contain information of interest to researchers. But with whole-genome sequencing costing five times as much as exome sequencing and driving up data costs and complexity, Biobank is pursuing an exome-focused strategy for now.  

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