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GT All-Stars on Sequencing And Bioinformatics, the Rise of Direct-to-Consumer Genetic Testing, More

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Back in 2002, Genome Technology lauded the stars in the field. After two rounds of balloting, readers said that Washington University in St. Louis' Elaine Mardis was the most outstanding in sequencing technology and that CuraGen's Martin Leach was the most innovative in bioinformatics. At the time, Mardis said that "eventually, we'll see 'hip-pocket DNA sequencers that [people] can take to a disaster site and do forensics.'" While sequencers aren't quite that small yet, a number of desktop sequencers like Illumina's MiSeq, Life Technologies' Ion Torrent PGM, and Roche 454's GS Junior have since come online.

Meanwhile, Leach noted that bioinformatics had been growing at CuraGen, starting with five or 10 people and ramping up to more than 60 in 2002. Leach made for Booz Allen Hamilton in 2005 — and CuraGen was bought by Celldex Therapeutics in 2009 — before moving onto Merck where he was the executive director of IT for basic research and biomarkers. Now, he is the chief information officer at the Broad Institute where he oversees computing and IT.

In October 2007, GT spoke with DNA Direct's Ryan Phelan about the challenges facing direct-to-consumer genetic testing. At the time, Phelan said that it is difficult for consumers to have access to genetic tests. "It's really a limitation of the integration of genetics and healthcare," she said. Other DTC genetic testing services like 23andMe, DecodeMe, and Navigenics sprung up around the same time as DNA Direct. Navigenics was recently acquired by Life Technologies, Decode Genetics has gone through bankruptcy, and DNA Direct became part of Medco, which has since been acquired by Express Scripts. Phelan is now the executive director of Revive and Restore, which aims to bring back extinct species.

Last year, GT reported on researchers from the University of Münster and Life Technologies using the Ion PGM to sequence a strain of enterohemorrhagic Escherichia coli behind an outbreak in northern Germany. Drawing on that experience, the researchers then developed a multiplex PCR-based rapid screening test for a Klebsiella pneumoniae outbreak that caused more than 80 infections at a hospital in Rotterdam, The Netherlands. On page 8 of this issue, GT reports that US researchers have been able to use a sequencing approach to track a K. pneumoniae outbreak at a hospital there.

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