Illumina of San Diego has become the first company to offer a whole-genome sequencing service for under $50,000. Knome of Cambridge, Massachusetts, the only other company currently marketing whole-genome scans to consumers, charges $99,500 for KnomeCOMPLETE—a considerable reduction from their original asking price of $350,000. Illumina's new Personal Genome Sequencing Service uses the company's popular Genome Analyzer system and is performed in its recently Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Clients will receive their entire genome sequence including information on single nucleotide polymorphisms (SNP) variations, insertions, deletions and rearrangements. “Illumina stands out because they have such a great reputation, the price is half what Knome is asking, and the other companies are just assaying a bunch of SNPs on a microarray,” says Ken Rubenstein of Lion Consulting. Unlike its competitors, Illumina does not provide data interpretation as part of the service. “This service doesn't require much investment from them,” Rubenstein says, “and yet it gives them a good window onto this evolving field.” Consumer genomics is beset by uncertainty at this point. Several of the highest-profile companies, including Knome, 23&Me and Navigenics, have had to lower prices over the last year. Experts have argued that the true medical value of whole genome analysis is still far from being realized.
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Allison, M. Illumina's cut-price genome scan. Nat Biotechnol 27, 685 (2009). https://doi.org/10.1038/nbt0809-685c
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DOI: https://doi.org/10.1038/nbt0809-685c