NEW YORK (GenomeWeb) – Tute Genomics is piloting a new program and online portal on the crowdfunding platform Kickstarter this week through which it will offer whole-genome and whole-exome sequencing and analysis services directly to consumers.
The program offers backers the option to have their whole-genome or exome sequenced by Tute's partner laboratories and be provided with reports that include information on actionable variants in their DNA as well as their risks of developing a variety of diseases. Clients will be able to access both their raw sequence and variant reports via the so-called Knome portal, which serves as the front end to Tute's service.
Early backers will be able to get their genomes and exomes at discounted rates of $999 and $399, respectively. The service is only available at those price points to the first 10 individuals to sign up for whole-genome sequencing and the first 50 individuals to sign up for whole-exome sequencing. Once the first 60 slots are taken, the price will rise incrementally for each additional group of backers that sign up until the company hits its maximum price for the service — anyone who signs up after that will be charged full price.
"We are targeting a final price of $1,499 for genome and $459 for exome, but these prices are subject to change as the campaign progresses," Joshua Forsythe, Tute's vice president of marketing and business development, told GenomeWeb. There is no limit to the number of people who can sign up to have their DNA sequenced as part of the campaign.
There is also an option for customers who have already had their genomes or exomes sequenced to participate in the program as well. Those individuals pay a one-time $70 fee to have the company look through their whole-genome or exome sequences and report on their disease risks and other information.
"We believe everyone should have access to their genetic information to live healthier, fuller lives, [and] this is one of the ways of pushing that forward," Tute CEO and Co-founder Reid Robison told GenomeWeb, explaining the rationale behind the company's decision to launch the program. Not only does the service give individuals insights into their genomes, it also makes their sequences available for repeated querying and reuse moving forward.
This initiative is also motivated by the "overwhelming feedback" that Tute has received from members of the rare and undiagnosed disease community and elsewhere about their desire to access their sequence information and their right to use that information as they see fit, according to Forsythe. "That is one aspect of this program that is not to be dismissed," he told GenomeWeb. "People want to own their data and they have a right to own their data and take it to whomever they want."
This belief in the individual's right to own their genome information is part of the rationale that, at least in part, underlies La Jolla, California-based Guardiome's direct-to-consumer whole-genome sequencing business.
And a number of recently launched initiatives offer opportunities for individuals to voluntarily contribute their genomic data. That list includes DNA.Land, a non-profit run by Columbia University and the New York Genome Center, which accepts data from several direct-to-consumer companies.
One of the researchers involved in the DNA.Land initiative has launched a second related service that offers sequencing services coupled with a free smart phone app called Seeq through which researchers share basic analysis results and recruit participants for academic research projects. There's also GenomeConnect, an initiative of the National Institutes of Health-funded Clinical Genome Resource, which provides a platform for rare disease patients to contribute de-identified genotype and phenotype information to public databases. Meanwhile, Portable Genomics is taking an economics-based approach by offering financial incentives to patients to share their genomic data with third parties.
Furthermore, at current price points, genomic sequencing is a more realistic prospect for a broader swathe of the population in many first-world countries and that could encourage more people to pay for it out-of-pocket. For example, according to most recent numbers from its site, Guardiome charges $3,100 for its service, but that also covers the cost of a device called Helixa, which allows customers to store and access their sequence information without connecting to the internet. At roughly $1,000 for whole genome and $400 for exome, Tute's offering is still on the expensive side, but it is much more affordable than it used to be. To put that in perspective, "we pay more money than that for our smart phones and TVs," Robison pointed out.
Judging from responses that it has gotten to early efforts to promote its new service to potential backers, the company believes that it is reading the market right. According to numbers from Forsythe, as of the day before the official launch on Tuesday this week, over 130 individuals had put in requests to be notified when the portal went live in addition to a "large number of personal inquiries" from individuals interested in backing the project. "We've had a stronger response than we anticipated not just on the exome level but on the whole-genome level as well," Robison told GenomeWeb. "[That] surprised me a little bit [because] I expected the exomes to be more popular by far."
But this is just one part of Tute's thinking about its latest move. Part of the rationale for launching this as a Kickstarter initiative was to assess different service options and price points to figure out which ones are most attractive to different market segments, Forsythe noted. The company intends to make the service a permanent part of its portfolio, but exactly how it's offered could change depending on early customers' experiences and feedback. "Pre-funding measures that offer real-time feedback from paying customers, such as Kickstarter, enable us to focus our resources on innovations and product improvements the market places the greatest value on," he told GenomeWeb.
Robison told GenomeWeb that the Kickstarter campaign will run for a month. Once it closes, the company will mail out biospecimen collection kits to backers to collect saliva samples. These customers will send the samples on to CLIA-certified partner laboratories, which will sequence samples on Illumina instruments and then upload the data to the so-called Knome portal for variant analysis and annotation.
Tute's new service not only uses the Knome brand but also leverages assets that Tute acquired from the defunct company last year. Since it purchased the Knome tech, Tute has integrated those tools with its infrastructure and used them in at least one publicly announced customer engagement. Earlier this year, the company partnered with UniConnect to support next-generation sequencing-based panels for testing mitochondrial diseases and targets of newborn screening that are developed by Newborn Screening Ontario (NSO), a molecular testing laboratory at the Children's Hospital of Eastern Ontario.
For the current initiative, Tute will use the Knome-curated knowledgebase of information on genetic variants alongside its own internally built repository of variants and the Tute variant annotation engine, which was developed by the company's co-founder, Robison said. "The portal is essentially a layer on top of that, pulling out actionable insights and presenting them in a user-friendly and easy-to-understand manner," he said.
In this iteration of the portal, the company's reports will cover incidental findings, information on carrier status, how given mutations influence medication response, and information on well-characterized variant-disease risks for different common or complex diseases. Customers indicate in questionnaires sent along with their samples kits what information they want to receive in their reports and they can opt-out of getting other kinds of results. For example, some customers might want to know about their APOE status, which is a risk factor for late-onset Alzheimer's disease, while others may not, he said.
Client reports include the variant name and associated diseases, and provide a measure of the patient's risk of developing the disease or diseases in question. A sample entry listed on the Kickstarter site that shows an individual at high risk for developing Thrombosis also suggests a lifestyle change to mitigate the effects of the disease.
"We are focused in the portal [on] not inundating the user with information but [providing] simple and concise queries and summaries about an actionable subset," Robison said. Clients raw sequences and vcf files will also be accessible to them via the Knome portal, and the company is willing to store the data indefinitely unless the individual requests that their data be removed. Also, "We don't sell the data and we are not doing a research study, but we do, in the consenting process, ask users if they are okay with their data being used in aggregate to help train our machine-learning algorithms and other tools we are developing ... be more and more efficient," he said.
Furthermore, Tute will not provide medical interpretations of variants, nor will it use the service to diagnose existing genetic conditions, Robison stressed. "This is not a test that we are putting out there for diagnostic use, nor has it been cleared by the FDA," he stressed. This does not preclude people with suspected genetic conditions — especially those who have been denied by insurance or offered partial coverage — from taking advantage of the service and then providing their sequence and variant reports to their treatment team or any research efforts they are part of. Forsythe also added that the company is working on signing partnerships with qualified hospitals and labs that can provide a clinical diagnosis in these cases.
Some of the details of project are still being fleshed out. For example, it's not clear at this point how the samples will be collected from customers. They could be asked to send them to a centralized collection center, from where they will be shipped to different partner sequencing laboratories depending on whether the backer opted for whole-genome or whole-exome, Robison said. Alternatively, customers could be asked to ship their samples directly to the testing labs. Tute is also still settling on which labs to work with and is currently in talks with a few potential partners, according to Robison. "We [are doing] whole genome and exome ... [and] some labs are better at one than the other in terms of quality and efficiency."
In the future, Tute could expand its platform to incorporate data from DTC providers like 23andMe or Ancestry, but that is not the company's priority for now, according to Forsythe. "Our focus is on exome and genome sequencing and the insights these technologies provide beyond what you would receive from array-based service providers, [but] that doesn't preclude us from loading this type of data in our portal and presenting similar information as these other providers where appropriate," he told GenomeWeb. "This is still to be determined."
The company also can't provide specifics on turnaround times at present as those details are still being worked out. Robison said, however, that customers should expect a longer wait time because partner labs will batch samples for sequencing, and so it may take time to build up enough samples but it will still be "reasonable."
It is also still working on its consent document, putting some "finishing touches" on the Knome portal, and on setting up a network of genetic counselors to support customers. However, all those details should be sorted by the time the Kickstarter campaign closes and Tute starts shipping specimen kits a month from now, Robison said.