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Treatments not Terabytes

The genomics industry has a PR problem and it’s largely a self-made one. When I read articles about the latest in physics research and The Large Hadron Collider at CERN, I read about how the collider will be used to find new particles that will fundamentally alter our understanding of the universe. The fact that ...

Top 7 Thoughts Heard at ICHG

Last week, I attended the International Congress of Human Genetics conference in Montreal. Overall, it provided a wonderful and thorough update on the state of genetic research, practice, and plans – bravo to the show organizers and all presenters! Below are the top seven thoughts I heard in my sessions and around the ...

Leader in the Development of the Electronic Health Record is Integrating Whole Genome Analysis

The pioneer in the Electronic Health Record is the U.S. Department of Veterans Administration, with the development of the the Veterans Health Information Systems and Technology Architecture (VistA). They are again on the forefront of the design and development of a new VistA Electronic Health Record (EHR), using an eclectic open source model involving academia, the ...

WI Medical College Committed to Routine WGDx

This news is a couple months old but significant nonetheless in several aspects (keep in mind: this is where the blood-thinning drug warfarin was discovered): Highlights: Researchers at the Medical College of Wisconsin are taking pioneering steps to make whole-genome sequencing a standard part of diagnostic testing for children with rare inherited disorders not easily ...

JAMA Editorial: “Immediate Effect” of Whole Genome Sequencing on Cancer Treatment

The April 20, 2011 issue of the Journal of the American Medical Association, includes an editorial that speaks of the "remarkable" power of genomics for diagnosis of cancer.  Citing two patient examples, it argues that fundamental advances in cost and speed of whole-genome sequencing will likely make personalized genomic medicine for cancer treatment commonplace in ...

Whole genome MDx — a significant step forward for health care?

Last week, GenomeQuest announced whole-genome diagnostics reporting -- I thought that I'd offer some product and industry perspective on this news. The wonderful genetic experts at GeneTests have collected global research on over 2000 genetic disorders – GenomeQuest has built that database into its sequence analysis platform.  From a single, whole-genome sequence ...

Analysis can keep pace with sequencing

Earlier in the year I wrote an article about the growth curve of worldwide sequencing capacity based on current and expected placements of next-generation sequencing instruments. And while worldwide capacity increases at least at a doubling every year for the next five years, I am equally excited about the progress that has been ...

Implications of exponential growth of global whole genome sequencing capacity

Illumina's HiSeq 2000 running at capacity can sequence two whole human genomes per week at 30x coverage - enough for a full-blown whole genome analysis. One instrument produces 104 human genomes per year. Beijing Genomics Institute alone has purchased 128 of these instruments. The Broad has 51. And based on Illumina's 2010 Q1 10-Q filing, they've ...

The Economist on “Biology 2.0″

Good to see reasonably positive/researched/balanced reporting on genomics in a mainstream publication: http://www.economist.com/node/16349358?story_id=16349358.  I believe that the public getting educated/excited about genomics-driven personalized medicine will accelerate the genomics "arc to clinical" -- a good thing, I think, for the life science community and the public at large. Some excerpts: ... the science of biology is ...

Fixing Healthcare Requires Patience

The provocative title The Debt Crisis and the Human Genome belies Mike Mandels underlying message. I do worry that articles like this and the recent NY Times article A Decade Later, Human Genome Project Yields Few New Cures feed the cynics. Our society is so enamored with immediate gratification. Rome wasn't built in ...