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Los Angeles, CA February 15, 2016 – This year proved to be another great AGBT in Orlando, FL. This article focuses on:
Feel free to contact us at [email protected] to request a full copy of the poster.
We conducted an extensive review of over 1,000 peer-reviewed publications from 2012 through 2015, coupled with 30 in-depth interviews with key opinion leaders to assess key trends in clinical NGS.
Our research indicates that clinical NGS is in a rapid growth phase driven primarily by adoption in oncology, rare diseases and NIPT. Within oncology, NGS use is correlated with tumors with high disease burden and the availability of targeted therapies in which NGS could help optimize care (primarily breast, lung, CRC).
While clinical NGS adoption is exceeding even the most bullish forecasts, many institutions are unprepared to leverage the full potential of the technology, primarily due to workflow complexity, both on the front-end (i.e., sample preparation complexity compared to other fully automated methods) and the back-end (i.e., data analysis). A number of novel solutions may address these issues (e.g., Ion Torrent S5, Qiagen GeneReader) and compete with Illumina on dimensions other than throughput and data quality (e.g., turnaround time, sample-to-answer solutions).
Illumina is expected to remain dominant in the platform market for clinical NGS, with sustained innovations expected across multiple platforms within their portfolio. However, nanopore sequencers are quickly improving their accuracy and may present a disruptive threat (using the Christiansen framework for disruptive innovation). Their performance is expected to soon meet the needs of lower performance clinical applications with the upside potential to disrupt established technologies (e.g., SBS) given their scalability.
The majority of interviewees agree that NGS unmet needs are now on the front- and back-end of the workflow
While Illumina is expected to remain dominant, a subset of interviewees expressed interest in multiple novel platforms
Applying Christensen’s disruptive innovation framework to NGS highlights that nanopore sequencing has characteristics of a potential disruptive innovation
On the last day of the conference, we talked with 56 conference attendees and asked them the following question: “What were the two most exciting or interesting talks or announcements at the conference this year?” Respondents were asked to not vote for their companies / themselves / colleagues. Their answers are outlined in the interactive table below.
Here is some color commentary on the top 5 picks above.
10X genomics takes the cake, just like it did a year ago, and was mentioned by more than half of the people we questioned. The company had an impressive footprint at the conference, including their C-suite, marketing team and recent high profile hires David Jaffe and Deanna Church. 10X Genomics presented multiple talks, organized an incredibly well-attended workshop, and received multiple mentions from speakers during plenary and concurrent sessions. A detailed overview of the content of the workshop can be found on James Hadfield’s blog entry here. Look for more chromium genomes to be published shortly! Meanwhile, we’ll be crunching the numbers to better understand the placements of Chromium platforms ($125,000 / system) that 10X Genomics will need to place in the next couple of years to justify the pre-money valuation numbers that we overheard during the meeting… A great challenge for a great team!
Chris Mason, presenter extraordinaire, did an impressive job going through 92 slides in 30 minutes! He highlighted some of the goals of his twin study in collaboration with NASA. “We’re essentially replicating Mike Snyder’s experiment but in space!”, he mentioned, referring to the complete epigenetics / omics profile that will be conducted on his massively underpowered N=1 (terrestrial) vs. N=1 (1 year in space) twin study. The goal of this study will be to understand the impact of space travel on human physiology. One attendee noted: “What Mason is doing is science marketing; it makes genomics look incredibly cool, and in some instance, we can use a bit of that”. We’re looking forward to the data!
NanoString appears committed to continue to generate exciting announcements at AGBT. Following 3D biology last year, Joe Beechem, Sr. VP of R&D at NanoString summarized findings from a poster presented in previous days that details a novel sequencing method called Hyb & Seq. This technology, though still in early stages of development, appears to have very high accuracy (raw single pass error rate of 2%, generating Q35 after 2 passes), high read length (purely based on the length of input DNA), fast turnaround time, and low costs. Not a bad specification combo!
23andMe’s CEO Anne Wojcicki presented multiple example highlighting the power of the 1.2M engaged customers in the 23andMe database. The ability to have one subject – or rather, “partner” – participate in 200+ clinical trials has enabled the company to answer a wide-variety of questions, from understanding the frequency of rare double mutant phenotypes in Parkinson’s disease (only 17 people had this genotype in their 1M+ cohort) to determining the potential genetic basis behind the “white/gold vs. blue/black dress” paradox (there is no clear genetic association for it, according to their findings).
Illumina had a number of talks related to its recently launched MiniSeq. Many attendees mentioned Jay Flatley’s talk as impressive and a good summary of the past and future of the company (including comments on Firefly). Of note, a couple of people expressed frustration about the lack of disruptive announcement from the market leader in recent years: “Recently, Illumina has seemed more interested in making announcements to Wall Street at JP Morgan than to the genomics community at AGBT.”, lamented one attendee. Regardless, Mr. Flatley emphasized Illumina’s continued commitment to innovation, and to bring products to market as soon as they are ready to be commercialized.
In addition to the table above, the following entries earned 1 vote:
Of note, one hidden gem that we noticed was Jesse Salk’s poster. Jesse and his colleagues developed a technology dubbed duplex sequencing that increases sequencing accuracy on existing platforms >100,000x! His team will be spinning out a company from the University of Washington.
All in all, another great year! But let’s end with one last quote from an attendee: “The most exciting announcement this week was that we’ll be back in Marco Island next year!”
Disclaimer: Companies listed above may be DeciBio clients and/or customers