23andMe has launched a pilot program, intended for a limited number of genomics-savvy customers, to provide "personal exome sequencing" for $999.
Unlike its broadly marketed $99 Personal Genome Service – which currently genotypes approximately 1 million SNPs to provide more than 200 reports on peoples' ancestry, their risk for various diseases, and their likelihood to respond to certain drugs – the Exome 80x pilot program will be available only to those who are already using 23andMe's services and will not provide any reports.
The "exome sequencing pilot provides users with raw variant data for about 50 million bases of DNA, without reports," 23andMe explains in a website launched this week describing the pilot program. "Over time, 23andMe will add a limited set of tools and content that utilize exome sequence data."
The company is upfront about the limited utility of this raw genomic information to customers who aren't well versed in the science. "The exome sequencing pilot … is suitable for customers who are comfortable managing and understanding raw genetic data," the firm notes on the website. "If you don't know your exons from your introns, this pilot is probably not for you."
DTC genomics firms have faced regulatory scrutiny from the US Food and Drug Administration, which has expressed concern that these firms are providing medical tests to customers without sufficient accuracy and safety clearance. However, the agency's concerns are based on how these services associate genotypes with phenotypes, and how that link can be used to impact a person's healthcare decisions. By providing just the raw exome sequence information, 23andMe is, for the time, avoiding further regulatory challenges (PGx Reporter 10/13/2010).
23andMe is the first DTC genomics firm to move from genotyping to sequencing. However, for several years those with the interest and the money have been able get their whole genomes sequenced with a physician's prescription through Illumina.
In 2009, Illumina launched its Individual Genome Sequencing service for $48,000 per sequencing run (PGx Reporter 6/10/2009). Through this service, Illumina provides the raw sequence data, and customers interested in learning what this means for their health can get data interpretation services through several partners, one of which is 23andMe.
Currently, whole-genome sequencing through Illumina's service costs $9,500 for preventative care, $7,500 for "medically relevant" sequencing, and $10,000 for a tumor/normal pair for cancer patient sequencing.
Knome, meanwhile, initially targeted its genome sequencing and analysis service to consumers but has more recently emphasized its value for researchers. It currently offers whole-genome sequencing and interpretation for $4,998 per genome for a minimum of 10 genomes.