The Incidentalome

A very important paper was published last week in JAMA.  The punch line is this: Once the new high throughput diagnostic testing technologies — like massive SNP panels — are widely deployed there will be a significant spike in both true-positive and false-positive results.  The implications of this fact are deep and wide.

If you’ve got access to JAMA, check it out.  Otherwise, I’ll summarize the important parts the paper later this week. 

Isaac Kohane, Daniel Masys, and Russ Altman. "The Incidentalome: A Threat to Genomic Medicine" JAMA 296(2): 212-215. July 12, 2006. (sorry subscribers only)

Roche AmpliChip Video

Roche has posted a video describing their Amplichip CYP450 test, a DNA microarray that can identify 2D6 and 2C19 gene variants.

Affymetrix: 1 cent per SNP

Affymetrix, Inc., (Nasdaq: AFFX) announced today that its new GeneChip® Mapping 100K Array Set is now broadly available through an early technology access program. This two-microarray set can genotype over 100,000 SNPs and is the first in a family of products that will enable scientists to begin large-scale whole-genome association studies, which up to now have been unaffordable or impractical…The 100K allows researchers to genotype over 100,000 SNPs using just two reactions. Previously, genotyping 100,000 SNPs would have required 100,000 PCR reactions…“The GeneChip Mapping 100K Set is the first in a family of products that will enable scientists to identify genes associated with disease or drug response across the whole genome instead of just studying previously known SNPs or genes, and to study complex real-world populations instead of simple ones. To do this, we are making large-scale SNP genotyping not only quick and easy, but also affordable — about 1 cent per SNP” [says Greg Yap, Sr. Marketing Director, DNA Sciences].

New Affymetrix Arrays with 100,000 SNPs Available for Early Technology Access Customers, Affymetrix Press Release, April 5, 2004.