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GT All-Stars, Next-Gen Sequencing, DiaDexus, NIH Roadmap, and Bioimaging

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In 2003, Genome Technology celebrated its third annual All-Stars, our awards to scientists who were chosen by a panel of experts as the most deserving of recognition. That year, winners included George Church, Pat Brown, Lincoln Stein, Ruedi Aebersold, David Cox, Rolf Apweiler, Jeffrey Trent, and Francis Collins. Five years made quite a difference for many of them. Church has since launched his Personal Genomes Project and handed off his latest brainchild, a next-gen sequencing tool called the Polonator, for commercialization to manufacturing giant Danaher Motion. Stein accepted a position at the Ontario Institute for Cancer Research, headed up by Tom Hudson, and now spends most of his time there while continuing to maintain a presence at his longtime home of Cold Spring Harbor Laboratory. And Collins stepped down as director of NHGRI at the end of August.

Also in GT's November 2003 issue, we reported that NHGRI was launching a new grant program to fund development of technology to drastically reduce the cost of DNA sequencing. In the time since, the genome institute's awards have helped a number of researchers and companies develop next-gen sequencing tools. NHGRI recently made the last of its $100,000 genome awards, reasoning that by next year that goal will have been met. Indeed, some companies — including Applied Biosystems and Illumina — say that they've already sequenced a human genome for less than $100,000, and startup Complete Genomics has said that by next year it will be able to sequence a human genome for $5,000.

Five years ago, we also profiled DiaDexus, a genomics-based diagnostic company founded by Randy Scott and George Poste in 1997. Earlier this year, DiaDexus announced that it had received FDA clearance for an automated version of its test for stroke and heart disease susceptibility. Meantime, Scott is CEO of Genomic Health, which in 2004 launched OncotypeDX, a genomic test to predict chances for both recurrence and chemotherapy efficacy in breast cancer patients. Poste is director of the Biodesign Institute at Arizona State University, where he is also a professor of biology.

A year ago in GT, we reported that the Clinical Translational Science Awards consortium, founded by NIH in 2006, had been given a boost of $574 million over five years. The consortium is part of Elias Zerhouni's Roadmap Initiative, a program that has issued large amounts of funding for clinical and translational research. In this issue, we profile Oregon Clinical and Translational Research Institute, one of the first institutes to win a grant through the CTSA program.

The Scan

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.