NEW YORK (GenomeWeb) – Sure Genomics is planning to offer whole-genome sequencing direct to consumers for $2,500.
Interested customers can register now on the company's website and be put in the queue for the full commercial launch, which will occur in the first quarter of 2016, according to Co-founder Rick White.
Before being sequenced, customers must first meet with one of the company's in-house geneticists, who will provide a one-hour consult discussing why the customer wants their genome sequenced, the information that could potentially be discovered, and the information that will likely not be discovered. The geneticist will then prescribe the sequencing for the customer, asking a specific question of his or her genome, White explained.
White said the company plans to be "fully compliant" with the US Food and Drug Administration, meaning that when it first launches it will likely not be able to return data on disease risk, although White said that is the ultimate goal.
The sequencing will done both in-house in a CLIA-certified laboratory or can also be outsourced to one of Sure Genomics' unnamed partners, who will also have CLIA certification. Sequencing will be done on Illumina's machines to 30x coverage, and the firm has also partnered with DNAnexus for analysis. The company also will use publicly available and curated databases like ClinVar and dbSNP to make its variant calls, White said. Turnaround time will be between four and six weeks.
The company is headquartered just outside of Salt Lake City, Utah, but also has California offices in Carlsbad and Palo Alto.
The initial price for sequencing is $2,500, but there will also be an annual fee of $99 to pay for storage and a twice-yearly re-analysis, White said.
Customers' data will be stored on Sure Genomics' HIPAA-compliant server. Aside from the bi-annual updates, customers could also request notifications around specific areas of interest, White said. The regulatory compliance team would first review data to make sure the information meets regulatory rules prior to delivering it to customers.
For customers who want updates more frequently than every six months, there may be a "nominal charge," White said.
White said that Sure Genomics would maintain full regulatory compliance with the data it would return. Although he declined to disclose specifics around the kinds of information consumers would be able to order, he said the first products would be announced soon, adding that they would likely include wellness traits, which are not considered to be high risk by the FDA.
In addition, he said that the company's policy of providing consumers with a genetic consultation as well as returning results through an in-house medical provider would help maintain compliance.
"There are still a number of things that the consumer can get under medical supervision," White said. "Any and all data is going to be delivered with medical oversight," he said.
While the company plans to initially focus on delivering back data that will not require FDA clearance, the goal is to eventually deliver back information related to customers' inherited disease risk for things like cancer, cardiovascular disease, and more, White said.
The company will pursue 510(k) clearance for its tests "if necessary," White said, "if it's important to the consumer or the regulatory agency."
When it launches, Sure Genomics will not only have to navigate the tricky regulatory landscape, but it will also face competition from a handful of other DTC companies.
Earlier this year, Illumina-backed Helix announced its plans to launch into the consumer genomics space.
Helix and Sure Genomics have similar, but slightly different, business models. Helix plans to perform the initial sequencing at a much lower up-front cost than Sure Genomics but will then charge for each specific application the customer orders.
In addition, Helix is partnering with third parties to develop the specific applications. For instance, it said already it has partnered with the Mayo Clinic's Center for Individualized Medicine and Laboratory Corporation of America. The Mayo Clinic will initially develop genomic education and wellness-related applications but plans to eventually move into pharmacogenetics and other disease-specific areas.
Aside from Helix, Sure Genomics will also face competition from other DTC companies like 23andMe, which recently received FDA clearance to provide health-related information. Its Personal Genome Service now provides information on ancestry, wellness, nonmedical traits, and carrier status for $199. Other consumer genomics companies include Ancestry.com, National Geographic's Genographic Project, Family Tree DNA, and Pathway Genomics. Pathway Genomics markets a fitness test, while the other companies mostly focus on ancestry genotyping.
Sure Genomics is betting that it will appeal to customers who want their entire genome, rather than just a few SNP-based panels. However, depending on the type of information the company is able to provide and whether it will be able to provide significantly more information than these other DTC companies due to FDA regulations, it is unclear if consumers would choose to spend 10 times more for the same or similar information.
In addition, the regulatory landscape is continually evolving and could prove a challenge. Last month, the FDA published a Federal Register notice outlining special requirements labs will have to meet in order to commercialize carrier screening tests that are exempt from 510(k) clearance.
The agency also recently sent letters to three DTC companies — Interleukin Genetics, DNA-CardioCheck, and DNA4Life — requesting information on their respective DTC tests. Interleukin Genetics offers three tests that screen for an increased risk to periodontal disease, osteoarthritis-related conditions, and obesity-related genotype for weight loss; DNA-CardioCheck screens for genetic markers of cardiovascular disease, stroke, deep-vein thrombosis, and thrombophilia; and DNA4Life markets a pharmacogenetic test.