Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
Milwaukee Clinic Beats UCSF at Being First Non-Celera Lab to Offer KIF6 Genetic Testing
August 11, 2009
A clinical lab in Milwaukee, Wis., has beat the University of California, San Francisco, at being the first non-Celera lab to offer KIF6 genetic testing.
The clinical lab of Aurora Health Care will also be the “first large [health] network” in the US to offer the test, which is designed to identify patients at increased risk for congestive heart failure, according to a San Francisco news outlet.
It also marks the first time Aurora will offer genetic testing for a cardiovascular application, according to the San Francisco Business Times.
As I reported from AACC’s annual conference last month, UCSF had been negotiating a deal with Celera to license the test. Before Aurora penned its deal, the only lab in the US to offer the test was Berkeley HeartLab, which is owned by Celera.
Alan Wu, a professor of Laboratory Medicine at UCSF, disclosed his school’s negotiations with Celera during a presentation at the conference. Reached by e-mail today, Wu, who is also the chief of San Francisco General Hospital’s Clinical Chemistry Laboratory, conceded UCSF has “been slow to get the contract signed” but stressed that the school is “still working to get this done.”
Carriers of the KIF6 wild-type gene are 50-55 percent more likely to develop congestive heart failure, according to some research. The gene is “the most advanced marker in our service offerings," David Speechly, Celera's vice president of corporate affairs, has said.
