While You Were Waiting...The $1,000 Exome.

It’s been quite some time since my last blog post. We’ve been rather busy over the summer, so let me fill you in on what has happened. At Edge, we have been diligently working on our CLIA certification and offering, with our latest test offering a CLIA exome on our Illumina HiSeq2000 platform using either the Agilent SureSelect capture or Roche Nimblegen capture. Over the coming weeks the staff at Edge will be releasing a series of blog posts relating to targeted resequencing methodologies. They will relate specifically to Project Design, Research & Clinical applications, “Tools of the Trade”, Data Delivery and then a summary “Cheat Sheet”. They will be information heavy, with lots of tables and data to digest, so try not to read them right after a large meal.

We have also recently acquired a MiSeq instrument so you can bet that as we put it through its paces you will see some blogs about data quality and utility surrounding that instrument.  In addition to new MiSeq data, we will also be releasing a comprehensive analysis of the new cancer and mendelian panels from Ion Torrent.

So, what’s with the title of the blog? Well, while we are all waiting for the $1,000 genome (sans interpretation) to become widely available, the $1,000 exome seems to have found a spot in the marketplace. EdgeBio has now joined others in making available whole exome sequencing for as little as $1,000 per sample. We see quite a bit of utility in exome sequencing for the foreseeable future and this price point should make it quite attractive to use exome sequencing when interrogating tens, hundreds or even thousands of samples. If you are still convinced that you just can’t do without whole genome sequencing (WGS) we’ve been working on that as well. Now, here at Edge, you can have WGS done for as little as $6,500 per sample. Not quite as low as $1,000 but progress is being made.

Speaking of progress toward a $1,000 genome, the Archon Genomics X Prize presented by Express Scripts (NASCAR is very proud of the name) is now officially a contest! In case you missed it, the first contestant to officially sign on to compete was Life technologies, which will compete using their ion torrent technology. Last month George Church announced that he will also lead a competing group, which will leverage multiple technologies for the competition. So, with two contestants, we now have the stage set for some head-to-head competition. 

Stay tuned everyone as the EdgeBio blog is about to get revved back up for the fall.