Without a doubt, the Human Genome Project produced some of the most significant advancements in genomic science of the past two decades, from seismic improvements in genomic sequencing technologies to the first ever “map” of the human genome. In 2000, as the Human Genome Project was marching toward completion, Ewan Birney of the European Bioinformatics Institute wound up in an argument with Francis Collins (then head of the National Human Genome Research Institute and today the Obama administration’s nominee for head of the NIH) over the number of genes in the human genome. What resulted was a friendly competition — dubbed GeneSweep — between some of the world’s preeminent genomic researchers to predict the final tally which, in 2003, was announced at a mere 21,000 genes. The winner, Lee Rowen from the Institute of Systems Biology in Seattle, collected more than $1,000 and a signed copy of The Double Helix for her prediction of 25,947 genes.
Now a pair of prominent scientists have placed a new wager on the course of the next two decades of genomic research. As described in the New Scientist, a case of fine port hangs in the balance of this sentence:
By May 1, 2029, given the genome of a fertilised egg of an animal or plant, we will be able to predict in at least one case all the details of the organism that develops from it, including any abnormalities.
Recap from the Consumer Genetics Show: Illumina Gets Personal in Advance of the Coming Bioinformatics Bottleneck
The first annual Consumer Genetics Show took place last week (June 9-11) in Boston, MA. With much anticipation — and some uncertainty about what to expect from the inaugural event — research, commercial and thought innovators from across the country came together to discuss the present and the future of consumer genetics technologies and services and the research and science that is driving the development of those technologies.
Highlights from the show — which was attended by most of the GLR team — included Francis Collins’s anonymous genome sequencing and Zak Kohane’s discussion of the “Incidentalome.” In addition, the GLR’s own David Clark presented a well-received talk (slides) on the Emerging Legal Issues in the Expanding Genomics Space.
But arguably the most newsworthy event of the show came courtesy of Illumina’s CEO, Jay Flatley, who officially launched Illumina’s personal genome sequencing service. The announcement was covered extensively by Genetic Future, Forbes, GenomeWeb and others, and Illumina has produced its own site — http://www.everygenome.com/ — to explain the service. The short version is this: for $48,000 — just under half of the previous low-water mark of $99,000 established by Knome earlier this year — consumers can purchase a whole-genome sequence and, after consulting with a physician, completing a consent form and confirming their interest after a one-week waiting period, have it delivered to them on their own Apple iMac.
But perhaps the most interesting feature of Illumina’s service is what you don’t get for your $48,000 investment. Although your iMac comes loaded with some 3 billion base pairs representing your genome, Illumina does not provide any data interpretation, relying on third party providers to assist consumers and their doctors with the all-important process of attempting to understand the significance of all of those newly-delivered As, Ts, Cs and Gs.
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