The 3rd annual Consumer Genetics Conference kicks off today at the Hynes Convention Center in Boston, MA. While a relatively young conference, it represents the only pure discussion forum (that I have found) for the emerging world of consumer applications of genomics. While the focus is largely on the medical community and clinical applications of genetic analysis, the presence of the retail and consumer product industry (L’Oreal this year, P&G last year) as well as policy and regulatory leaders add an exciting “the next frontier” feel to the conference. The headline speakers include George Church (Harvard University) and Michael Phillips (Montreal Heart Institute) from the academic research field, Heidi Rehm (Partners Healthcare) and Michael Christman ( Coriell Institute for Medical Research) from the clinical/personalized medicine field, and Hank Greely (Stanford U.), Muin Khoury (CDC), Zivana Tazak (FDA), and Sharon Terry (Genetic Alliance) from the policy arena. The conference is well attended by all major players from the Next Generation Sequencing space. Complete Genomics (GNOM), Ion Torrent (Life Technologies, LIFE), GnuBIO, Illumina (ILMN), Nabsys, Noblegen, Pacific Biosciences (PACB) all have representatives at the meeting and will participate in a sequencing round table discussion this afternoon (Tuesday). In past years both Illumina and Life Technologies have made announcements regarding their involvement in service based genomics offerings. At last years’s meeting Illumina CEO Jay Flately announced for the first time a Whole Genome Sequencing price of under $10,000 available through the Illumina network and showed his own genome on an ipad at the conference. While no particular announcements are expected at this years conference, both the sequencing round table and the keynote talks by Jay Flately and Johnathon Rothberg (Ion torrent) could prove interesting.
I will be live blogging/tweeting from the conference today and tomorrow and am looking forward to the discussions. As a preview the following are my “5 Burning Questions Heading into CGC 2011″ -
1. What technological approaches are being used in the hospital based clinical diagnostic laboratories?
The rapid drop in cost of sequencing due to NGS technology has begun to enable use of NGS in clinical settings. This year, the launch of the Life Technologies “Personal Genome Machine” (Ion Torrent) as well as the pending launch of the Illumina MiSeq have reduced the upfront capital cost, turnaround time, and complexity of operation associated with carrying out NGS. Several clinical labs have begun to experiment with these new instruments (and other NGS approaches). Are these technologies being used commonly in the clinical setting or only experimental at this point? What types of analysis are being carried out using sequencing technology today (Targeted (known polymorphisms)? Infectious Disease? Screening? Drug metabolism? What are the technical hurdles? Is accuracy satisfactory?) (I actually have a lot more then 5 questions about this topic…)
2. What is the role for Sequencing as a Service vendors in the emerging clinical sequencing market?
Both Illumina and Complete Genomics have established research based service offerings, however the volume of potential clinical sequencing samples remains the holy grail for the sequencing market. are these company’s sequencing clinical samples today (through IRB or otherwise?) Where will the cost of Sequencing as a Service be per sample by the end of the year? What role will Lab Corp and other testing companies play in this market? Who will pay for Whole Genome Sequencing?
3. What does the emerging Payor environment look like today? How is that changing?
It will be interesting to hear thoughts from Gerald McDougall, Sharon Terry, and Hank Greely, but the silence from the payor’s on this topic continues to be deafening. It also seems like FDA needs to weigh in further before anyone is willing to place bets here (MDUFMA reauth anyone?).
4. What will we hear from the sequencing technology round table (aka. steel cage match)?
Six of the leading and emerging NGS technology company’s on the same panel, this could be fun. Although, more likely pretty tame, I do expect we will hear a regurge of the latest and greatest accuracy, read length, and throughput stats from Illumina and Pac Bio. I’m looking for new data from GnuBio, any update from Noblegen, and updates from Complete Genomics specifically around their single cell amplification technology (due out later this year).
5. How will genetics enter the consumer space outside of the clinic?
I feel like this is the reason I first attended (and continue to attend) this conference. It is clear the consumer industry is beginning to pay attention to the space. But the general sense I have gotten the last two years at this conference is “We don’t know what matters yet…”, “It is totally unclear what consumers would pay for…”, and “We don’t want to cross the FDA on this…”. All valid points in my book, but never the less services like 23 and Me, Navigenics, Knome, and others continue to get customers. As sequencing costs drop and more and more people get access to their genetic information, it seems that it is natural for them to want to leverage that information beyond the medical realm and into their daily lives. Basically I can’t wait to buy the pepsi built especially for my taste genotype;) Long way off at this point but it feels like someone in this room is likely to figure it out.
I will be summarizing my notes daily on this site from the conference and tweeting live @brighamhyde.
- Brigham Hyde Ph.D.