Human Genome for $1000

| January 11, 2012

RTR2W34S_194310The Wall Street Journal (1/10, A2, Winslow, Wang, Subscription Publication) reports that Life Technologies Corp, developer of the Ion Torrent sequencing platform, is planning to offer the sequencing of a human genome for $1,000 by the end of 2012. The National Human Genome Research Institute (NHGRI) set the goal of a $1,000 genome in 2004, and the Journal notes that the initiative has already helped lower the cost of sequencing a human genome. However, American Society for Clinical Pathology spokeswoman Karen Kaul points out that understanding the biological or medical implications contained with genomic sequences will require far more research. Similarly, NHGRI director Eric Green was quoted as saying, "We can sequence the genome for dirt cheap… but we don't know how to deal with the data. We've got to work on that."

According to Reuters (1/10, Begley), researchers pointed out that it is unclear how much medical benefit could be derived from whole-genome sequencing, noting that many mutations only slightly increase the risk of certain conditions, or may have different effects in combination with other genetic variants. In addition, a study that is to be published in the European Journal of Human Genetics found that family medical history was a more accurate predictor of breast, colon and prostate cancer than DNA sequencing, which they attribute to sequencing analysis looking at too few genes.

In continuing coverage, the Los Angeles Times (1/11, Brown) "Booster Shots" blog reports Illumina Inc. and Life Technologies Corp. both "said Tuesday that they would soon offer machines capable of sequencing a human genome in about a day, at a cost of less than $1,000," which "would come to market in the second half of this year." The common notion was "that once the price drops to that point, it might become affordable for doctors to deliver 'personalized medicine' — to study patients' genomes to make diagnoses and perfect medical care." One expert says that it will "most likely…affect researchers and physicians treating cancers."

"The machines, called sequencers, allow scientists to identify the arrangement of the 3 billion chemical 297068120-10172151 building blocks that make up someone's DNA," the AP (1/11, Ritter) explains. "Whether genomes from the new machine will actually cost exactly $1,000 will depend on how one calculates that figure," Chad Nussbaum, co-director of the Genome Sequencing and Analysis Program at the Broad Institute said.

Bloomberg News (1/11, Cortez, Langreth) reports, "Life Technologies, based in Carlsbad, California, today said it is taking orders for its benchtop Ion Proton Sequencer," which is "available for $149,000, [and] is designed to provide a full transcript of a person's DNA in a day for just $1,000. Illumina, of San Diego, said its HiSeq 2500 will be available in the second half of the year. It didn't reveal the price."

Reuters (1/11, Begley) reports that the cost may actually be higher than $1000 since a genetic counselor would have to explain the person's genomic results, adding additional costs. But the sequencing of one's genome would help determine which drug is effective for each patient.

Despite the advantages of having your genome sequenced, "increased speed and access could make for some knotty ethical concerns," the Hartford (CT) Courant (1/11, Weir) adds. "Some worry that insurance companies and employers could discriminate against people whose genetic profile reveals serious and costly health risks." Also covering the story are the BBC News (1/11, Briggs) and the UK's Telegraph (1/11, Bloxham).


Category: Pathology News

Comments are closed.