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A Hurry-Up-And-Wait Signal For Clinical Whole Genome Sequencing?

Executive Summary

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.

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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.

Molecular Diagnostics Ushers In New Era Of Prenatal Testing

The recent launch of several noninvasive gene-based tests for Down syndrome and other fetal chromosomal abnormalities is poised to upend current prenatal screening practices and potentially usher in a new, multibillion-dollar market opportunity in the process. These new tests employ next-generation gene sequencing, along with advanced, risk-based computer algorithms, to detect and characterize fetal genetic abnormalities using the DNA present in a maternal blood sample. And because they are actually able to “interrogate” the DNA, they represent a huge technological advance over the current standard-of-care for prenatal screening.

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