A Researcher’s Hope For Sequencing: Rare Genetic Variants Yield New Drugs
Columbia University Professor Wendy Chung’s work on identifying the causative mutations underlying ultra-rare diseases such as hereditary pulmonary hypertension puts a real-world perspective on pharma’s increasing interest in genomic analysis as a tool for drug discovery.
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Regeneron and Geisinger’s new collaboration to identify genetic variants and apply that knowledge to drug discovery and patient care is pharma’s most ambitious effort to date to exploit next-generation genomics, but its impact on drug discovery productivity won’t be known for years.
The debate over whether whole-genome sequencing (WGS) can compete with targeted sequencing approaches ratcheted up a notch when WGS service provider Complete Genomics tabled its plan to double capacity until, it said, “demand for clinical-grade genomes supports expansion.” But data interpretation may prove to be as much of a gating factor as sequencing speed or scope.
Gene sequencing instrument providers are currently at the center of a range of corporate activities: acquisition, partnering, financing. As technology innovation continues, costs decrease, and the pace and scope of clinical genomic studies picks up, the notion of sequencing as the foundation for a clinical diagnostics platform is gaining more support. Delivering value to diagnostics customers ultimately may demand that instrument providers move downstream, involving themselves in data analysis and workflow and even test development, to prime the clinical market.