BOSTON — Illumina and four direct-to-consumer genomics firms — 23andMe, Knome, Navigenics, and Decode Genetics — have joined forces to bring whole genome sequencing analysis of genetic risk information to customers.
In launching its personal genome service today here at the Consumer Genetics conference, Illumina announced that it will charge $48,000 to analyze patients DNA by whole-genome sequencing. Illumina will do the primary "raw data" analysis, but offer its customers the option of going through the four DTC genetic companies to learn about the risk and potential lifestyle impact conferred by their genetic data.
The sequencing analysis will be performed at Illumina's own CLIA-certified laboratory. Through an iMac interface, Illumina will initially report to consumers the "primary data," including comparisons between the sequence with the reference genome, SNP detection, structural variants in the genome, and copy number variations.
"So we'll provide that raw set of information," Illumina CEO Jay Flatley told GenomeWeb Daily News sister publication Pharmacogenomics Reporter at the conference. "But what we won't do, or have no plans to do in the future, is connect that data with medical outcomes, with traits."
Particularly since Illumina's iMac interface might be "a little bit intimidating" for most customers, they will have the option of signing up with a DTC genomics firm, with a more consumer-friendly interface, to learn more about their genetic risk associations.
Illumina will also launch an iPhone application that will allow consumers to check their personal genome for genetic markers related to ancestry, traits, and health on their phones. Flatley demonstrated the iPhone application at the conference, but the app is not yet available to consumers.
The DTC firms will "be working with us to provide the consumer layer on top of our datasets," Flatley said. "All these companies have different business models, but whatever they charge will be incremental to the $48,000" fee for sequencing through Illumina.
"The consumer can choose to use all of them, one of them, or none of these companies if they like," he added.
As of May, Knome's whole genome sequencing service cost $99,500. 23andMe's Personal Genome Service costs $399. Navigenics' HealthCompass Service costs $2,500 and its pared down Annual Insight offering is $499. Meanwhile, Decode charges $985 for a complete scan of one's genetic risk for 38 diseases and traits, $225 to scan for cancer genes, and $195 to scan for genes related to increased risk for various cardiac conditions.
It is unclear if DTC firms will offer a different price point to Illumina sequencing customers.
DTC consumer genomics firms have long said they intended to move toward whole genome sequencing. However, given the current cost of instruments, the partnership with Illumina offers access to the technology and still allows the individual firms to maintain their competing business models.
Prior to this sequencing collaboration, many of the partners were already working with Illumina.
Decode and 23andMe use Illumina's genotyping chips in their services. Knome's whole genome sequencing service, launched in 2007, utilizes an undisclosed sequencing technology provider. The company has outsourced its sequencing to BGI, which uses Illumina technology. Navigenics uses Affymetrix's chips for its genome scans.
Initially, the DTC firms will be extracting from Illumina's sequencing data the same types of data that the companies analyze through their chip scans. "Because the sequencing gives you everything, over time, [the DTC firms] will be able to give more information that they couldn't give customers through their genotype chips," Flatley said.
"They can put in more information on structural variation, more pharmacogenomics information, so the richness of the data set will improve over time," he said.
In a departure from the DTC genomics firms, which allow customers to order gene scans over the internet and deliver sample collection kits directly to consumers, Illumina will involve physicians more directly in its service.
Illumina will deliver the sample collection kits and consent forms to either a physician of the customer's choosing or a doctor in Illumina's Personal Genome Network. This, according to Flatley will ensure that the customer understands the science and what the technology can and cannot do from a medical professional first.
Approximately two to three months after the samples are sequenced, Illumina will send the results to the physician to be shared and discussed with the customer.
Flatley noted that the company will not be advising customers which DTC firm to select. "We're trying to level the playing field here," Flatley said.
For more details on the sequencing aspects of this story, please see GWDN sister publication In Seqence. For more on the regulatory aspects of this deal, please see Pharmacogenomics Reporter.