Pathway Genomics Launches and a Look Back at Two Years of DTC Genomics
Pathway Genomics became the latest entrant in the consumer genomics space when it publicly launched its new direct-to-consumer (DTC) genotyping service this morning. Pathway provides genotyping (or SNP testing) for a variety of genetic traits and markers including ancestral testing for $199, health and disease testing for $249 and both the health and ancestry service for $349, which is a $50 price drop over the current market leader, 23andMe. Blaine Bettinger (of the Genetic Genealogist and a consultant for Pathway) previewed the service back in March and today’s Bio-IT World also has a detailed summary.
What’s new about Pathway Genomics? From a narrow perspective, perhaps not much. On its surface, the Pathway offering is comparable to products already on the market from 23andMe, deCODEme and Navigenics. Although it’s too early to evaluate Pathway’s promises of “better science, deeper results, and a better price,” the genotyping service appears competitive with existing industry offerings, with the ancestry testing component positioned to be an industry leader. However, unlike the last major DTC genomics announcement, there does not appear to be anything fundamentally new about Pathway’s technology or market-shattering about its price point.
Even though Pathway does not appear to offer a breakthrough technology or business model, its launch is still a significant event. It represents yet another bet by investors on the commercial potential of consumer genomics and ratchets up the competition for DTC market share. Moreover, Pathway’s service is indicative of how the consumer genomics industry continues to shift.
Genomic Research Goes DTC
The first generation of Direct-to-Consumer genetic testing and sequencing was populated by companies such as 23andMe, Navigenics and deCODEme that offered genotyping for a limited set of conditions, focusing primarily on genealogy and monogenic traits.
As the cost of generating genetic data continued to decline new companies brought new commercial offerings to the table, including whole-genome sequencing from Knome and, more recently, Illumina, and an increasing focus on the genetics underlying complex diseases and traits.
Recruiting Customers as Research Subjects
Even more recently a new dimension to the field of DTC genetics has emerged: Direct-to-Consumer research. In May of 2008 23andMe’s founders laid out their vision for customer-driven research. 23andWe, as the company’s research arm is known, launched its first significant project in March of this year when, aided by financial support from Sergey Brin, the co-founder of Google and the husband of 23andMe co-founder Anne Wojcicki, 23andMe announced a large-scale study aimed at the genetic bases of Parkinson’s disease. The study aims to recruit 10,000 patients with Parkinson’s disease to enroll. Participants in the study will receive 23andMe’s services for $25, a steep discount from the going rate of $399.
And on Tuesday, 23andMe announced what it is terming the “Research Revolution, a community outreach program that empowers people to drive the direction of genetic research.” In some ways this Research Revolution is genomic research meets American Idol, with the general public invited to vote by participating in the project and choosing from a list of 10 diseases to support. (Participation costs $99 for a stripped-down version of 23andMe’s service that does not include several key features, including ancestry information, carrier testing and access to the underlying raw genetic data).
Recap from the Consumer Genetics Show: Illumina Gets Personal in Advance of the Coming Bioinformatics Bottleneck
The first annual Consumer Genetics Show took place last week (June 9-11) in Boston, MA. With much anticipation — and some uncertainty about what to expect from the inaugural event — research, commercial and thought innovators from across the country came together to discuss the present and the future of consumer genetics technologies and services and the research and science that is driving the development of those technologies.
Highlights from the show — which was attended by most of the GLR team — included Francis Collins’s anonymous genome sequencing and Zak Kohane’s discussion of the “Incidentalome.” In addition, the GLR’s own David Clark presented a well-received talk (slides) on the Emerging Legal Issues in the Expanding Genomics Space.
But arguably the most newsworthy event of the show came courtesy of Illumina’s CEO, Jay Flatley, who officially launched Illumina’s personal genome sequencing service. The announcement was covered extensively by Genetic Future, Forbes, GenomeWeb and others, and Illumina has produced its own site — http://www.everygenome.com/ — to explain the service. The short version is this: for $48,000 — just under half of the previous low-water mark of $99,000 established by Knome earlier this year — consumers can purchase a whole-genome sequence and, after consulting with a physician, completing a consent form and confirming their interest after a one-week waiting period, have it delivered to them on their own Apple iMac.
Illumina's personal genome sequencing service
But perhaps the most interesting feature of Illumina’s service is what you don’t get for your $48,000 investment. Although your iMac comes loaded with some 3 billion base pairs representing your genome, Illumina does not provide any data interpretation, relying on third party providers to assist consumers and their doctors with the all-important process of attempting to understand the significance of all of those newly-delivered As, Ts, Cs and Gs.
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