Illumina Slashes Cost of Individual Genome Sequencing Service

6/9/10

[Updated 6/11/10 12:05 am. See below.] The cost of getting your genome sequenced continues to drop. San Diego’s Illumina (NASDAQ: ILMN) has lowered the cost of its individual sequencing service to $19,500 from $48,000.

The company is offering a discounted price of $9,500 for people with serious medical conditions who could potentially benefit from having their genomes decoded. Last year, doctors at Yale University reported using whole-genome sequencing to diagnose the mutation responsible for an infant’s persistent diarrhea. The information allowed doctors to tailor their treatment.

Illumina also is offering a discounted price of $14,500 to groups of five or more from the same physician.

[Updates here and below with comments by Illumina CEO Jay Flatley.] “It’s very clear as the price comes down that we’ve been able to open broad new markets,” says Illumina CEO Jay Flatley.

Illumina’s announcement last week came on the heels of Pathway Genomics’ aborted plans to market its genetic test kits in Walgreen drug stores. The retail chain reversed plans to carry the kits after the FDA questioned the company’s decision to market the test without the agency’s approval. Pathway, which is based in San Diego, has maintained it is in compliance with “currently applicable” regulations. Now a Congressional committee is looking into genetic tests marketed on the Internet by Pathway and competitors 23andMe and Navigenics.

The service Pathway intended to offer was cheaper than Illumina’s and far from the comprehensive genome sequence that Illumina provides. Pathway planned to sell the kits at $20 to $30 each and charge $79 to $249 to analyze customers’ saliva for relatively few specific genetic characteristics, such as links to certain diseases or how their bodies respond to caffeine or certain prescription drugs.

Illumina’s Flatley says he sees huge opportunities for using the information that can be gleaned from a patient’s genome, adding that he thinks FDA regulators “are as excited to the possibilities as we are. I think they’re just trying to figure out the best way to make that happen, and their concerns are about the process.”

Illumina formed an internal ethics committee to study its handling of the process, and Flatley says it took roughly a year to develop internal protocols that require customers to obtain a doctor’s prescription for the genomic sequencing. The company’s protocols require that a doctor takes a patient’s sample and that results of Illumina’s genetic analysis are returned to the doctor—not the patient. “Illumina is taking the high road to make sure it’s done right,” Flatley says.

In its press release, Illumina says its process requires individuals to undergo pre-service consultation, consent and a seven-day cooling-off period.

How useful is all that information to a healthy consumer? My guess is not very, since a great deal of genetic information remains to be discovered. To Flatley, the really important stake in the ground is the special $9,500 pricing for patients with very serious, life-threatening diseases. In such cases, Flatley says sequencing a patient’s genome could be beneficial to making a diagnosis or a path for treating the disease.

Denise Gellene is a former Los Angeles Times science writer and regular contributor to Xconomy. You can reach her at dgellene@xconomy.com Follow @

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