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Knome Adds Exome Sequencing, Starts Offering Services to Researchers


This article was originally published May 18.

Personal genome sequencing firm Knome said this week that it is adding an exome sequencing service to its offering that will cost one-fourth or less of its existing human whole-genome sequencing service.

The company also began offering its sequence and analysis services to researchers wanting to analyze small numbers of human genomes, rather than just to consumers interested in their own genomes.

According to Ari Kiirikki, vice president of sales and business development, Knome decided to start offering KnomeSelect, a targeted sequencing service that covers the exome, or about 1 to 2 percent of the genome, because most useful sequence information currently comes from variations in protein-coding regions. "You can get a significant amount of the benefit of our interpretation from just looking at the genes," he said.

KnomeSelect costs $24,500 for individuals, and $19,500 per person for couples and families, or between one-quarter and one-fifth of the company's whole-genome sequencing analysis service, KnomeComplete, which costs $99,500. Prices for both services will likely come down in the future, Kiirikki said, as new sequencing technologies become available. He did not disclose what technology the company uses to capture the exons.

With regard to patent-protected gene tests, such as Myriad's BRCA tests, he said that the analysis report will only include genes for which Knome has obtained a license. He did not elaborate on which genes the company has licensed.

As with KnomeComplete, sequencing for KnomeSelect will be conducted by the Beijing Genomics Institute, using Illumina Genome Analyzer technology.

The company hopes that the new service, because it is cheaper, will attract new customers, particularly families affected by genetic disease who want to have several family members analyzed.

But in addition to "retail customers," the company recently opened up its services to scientists interested in sequencing exomes or genomes of small numbers of humans as part of research studies. "We haven't actively promoted it, but researchers have approached us, and we have done a few [genomes] for them, and now we have turned it into a product" for researchers, Kiirikki said.

For example, Knome is currently working with an unnamed hospital-affiliated research institute in the US to sequence the genomes of a family with a history of Parkinson's disease.

Knome is targeting small research studies that are not large enough to be of interest for BGI directly and bundles research samples with its own "retail" samples when submitting them to BGI for sequencing, according to Kiirikki. Researchers can expect to obtain data back within two months, he added.

Besides delivering sequence data, Knome also provides certain analysis services to researchers, he said. For example, the company can compare sequence data to its proprietary database of variants, which includes data from prior customers who have given the firm permission to share their results with researchers. Such comparisons can help researchers eliminate polymorphisms that are probably not related to disease, he said.

As of January, Knome had sequenced the genomes or exomes of 20 customers and Kiirikki said that the company has added an undisclosed number of customers since then. The majority of these customers have given the company permission to share their data with not-for-profit researchers.

Although some potential research customers are aware of Complete Genomics' promise to offer whole-genome human sequencing for $5,000 per sample later this year, Knome believes its offer is still attractive to scientists. "We can deliver this today," Kiirikki said. "Now is the time to be putting this into your grant proposal."