If you want a glimpse at a company putting precision medicine into practice look no further than Prometheus Labs.  They make diagnostic products for personalized care in digestive disease and oncology.  I use their products to diagnose and target therapy in children with inflammatory bowel diseases (crohn’s disease and ulcerative colitis).

IBD offers a nice place to see the evolution of precision diagnostics:

Early biomarker testing.  Initially we had ASCA and pANCA antibodies to discern crohns and ulcerative colitis.

Advanced biomarker testing.  Sensitivity of ASCA and pANCA improved with the addition of OmpC and CBir1 antibodies.

Next generation testing.  Beginning next week through the release of the IBD sgi Diagnostic panel gastroenterologists will have at their disposal the addition of new antibodies anti-Fla-X and Anti-A4-Fla2 as well as genetic markers STAT3, ECM1, NKS2.3, ATG16L1, VEGF, ICAM, VCAM, CRP and SAA.

The elements of this alphabet soup represent genes and markers for IBD-associated pathophysiology.  You can burrow deeper by searching each of them on Google Scholar.

As a medical student we had x-rays, biopsies, and clinical presentation.  Now we’re looking to defining disease at its root disruption.  While we’re still understanding how to practically apply these diagnostic tools, the work coming from Prometheus Labs represents a move toward applied precision medicine.