The genomics industry has a PR problem and it’s largely a self-made one. When I read articles about the latest in physics research and The Large Hadron Collider at CERN, I read about how the collider will be used to find new particles that will fundamentally alter our understanding of the universe. The fact that ...
CMDx — A Killer App for NGS
Last Wednesday, I woke up to a NYT article by Andrew Pollack on the "Deluge of Data" that seemingly haunts the genomics field. The very next morning, I awoke to a folder full of applications for the GenomeQuest NGS software grant for consolidated gene-panel tests. Talk about night and day! While it's reasonable to question ...
PM Conference (HMS) and Executive Workshop Review
Last week, I attended the Personalized Medicine Conference (PMC) at HMS, moderated by Dr. Raju Kucherlapati. It was, yet again, outstanding in terms of quality of content, presenters, and networking. Immediately afterwards, GenomeQuest and NGS Leaders hosted over 30 moderators and Dx executives at a post-conference workshop to immediately exercise and apply ...
Top 7 Thoughts Heard at ICHG
Last week, I attended the International Congress of Human Genetics conference in Montreal. Overall, it provided a wonderful and thorough update on the state of genetic research, practice, and plans – bravo to the show organizers and all presenters! Below are the top seven thoughts I heard in my sessions and around the ...
Personalized Medicine for Cancer on CBS Evening News
On the 40th anniversary of the National Cancer Act, the American Association of Cancer Research (AACR) this week issued its first "Cancer Progress Report". It's an outstanding, 84-page narrative that outlines the progress in our understanding/treatment of cancer and the criticality of genomics in transforming patient care going forward. You can download the full report here ...
Leader in the Development of the Electronic Health Record is Integrating Whole Genome Analysis
The pioneer in the Electronic Health Record is the U.S. Department of Veterans Administration, with the development of the the Veterans Health Information Systems and Technology Architecture (VistA). They are again on the forefront of the design and development of a new VistA Electronic Health Record (EHR), using an eclectic open source model involving academia, the ...
Clinical sequencing to reach $3.6B?
The recent Macquarie report on clinical sequencing named our diagnostic decision support product, GQ-Dx, the technology leader in informatics and interpretation of clinical sequencing. In that report, they described a scenario where in as little as three years the clinical sequencing market could reach $3.6B. Believe it? GQ-Dx is our response to an overflowing demand by ...
NGS for Diagnostics Could Soon Surpass $3B in U.S., GenomeQuest Named “Technology Leader” — Macquarie Capital
In its third in a series of industry reports on the sequencing landscape, equity research specialist Macquarie Capital focused on the dynamics and opportunities in the clinical space. Included in the July 8, 2011 report: In as soon as three years, NGS testing could reach $3.6B in the U.S. (others have noted that MDx is the fasting ...
The Potential of Whole Genome Analysis for Clinical Diagnostics
The Institute of Medicine (IOM) is hosting a meeting on July 19 of this year called "Integrating Large-Scale Genomic Information into Clinical Practice: A Workshop." It couldn't come at a better time, as the cost has dropped low enough so that clinicians can begin to interrogate whole patient genomes and transcriptomes, and access these data ...
How fast is your read mapping algorithm?
This is a question that is often asked when I demo the GenomeQuest platform to potential customers. I always answer that question in three phases. The first phase goes like this: "It's really fast, it's certainly not any slower than BWA/Bowtie or anything else out there.". Next question is always: "Well, do you have any benchmarks?". Which ...