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23andMe Launches Pilot Program for Direct-to-Consumer Exome Sequencing


Consumer genomics firm 23andMe has kicked off a pilot program offering "personal exome sequencing" for $999.

The company posted information about the limited-enrollment program, called Exome 80x, on its website this week.

The move marks the firm's entry into the sequencing market. Its current Personal Genome Service is based on Illumina genotyping arrays that assess around 1 million SNPs. By comparison, the exome sequencing pilot will provide users with information on approximately 50 million bases of DNA at 80x coverage.

However, while the company's standard service provides more than 200 reports describing a customer's genetic risk for a range of health conditions, traits, and ancestry, the exome sequencing pilot will not provide any reports for customers — just raw variant data.

The company said that it plans to eventually "add a limited set of tools and content that utilize exome sequence data," but did not provide a timeline for doing so.

A 23andMe spokesperson said that "the specifics of the platform are being finalized" and the company expects to provide additional information about the service some time in the next few weeks.

The pilot is only available to existing 23andMe customers and participants will be determined on a "first come, first served" basis.

23andMe notes that the pilot is intended for customers who are "comfortable" managing and understanding raw genetic data.

"If you don't know your exons from your introns, this pilot is probably not for you," the firm states on the site.

23andMe is the first DTC genomics firm to move from genotyping to sequencing, but it is not the first company to offer sequencing services directly to consumers. Illumina's Individual Genome Sequencing, or IGS, service, which requires a physician signature, offers whole-genome sequencing for $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 to researchers for $4,998 per genome, for a minimum of 10 genomes.

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