Progene DX- Pathway to Certainty Part 1

What you need to know about transcriptomics: Learning a new genomics language; learning new insights on disease

GENOMICS: THE BRIDGE TO CERTAINTY

Not long ago, a listener on a podcast from Minneapolis called in two questions for me on genomics. “What is the genomics test you keep talking about? What makes it such a big deal, anyway?” I was talking about our group’s recently published paper; the listener was asking about Next Generation Sequencing (NGS), an incredibly sophisticated blood test that looks at activation (or suppression) of 25,000 protein-coding genes and another 25,000 non-protein coding genes (largely regulatory RNA). We now routinely use NGS, specifically RNA sequencing in our practices. RNA sequencing is able to dissect complex medical illnesses (CFS, fibromyalgia, CIRS, mold, Post-Lyme and more) that havedefied precise physiologic delineation for years.

GENOMICS

Some days, given the current focus on genomics in science and the media, it is easy to forget that it was just 15 years ago that the Human Genome Project was completed!It is also easy to forget that prior to the Human Genome project, 98% of the DNA in the human genome was called “junk,” in the sense that it had no known function. At is turns out, no, the rest of those junk genes aren’t junk at all! Ongoing research has unveiled a fascinating role for these “new” genes: most are regulatory. Imagine, we have long thought that transcription of DNA regulates how all of our body functions (and it does) by producing RNA that in turn influences protein synthesis. Now we add to that understanding the idea that DNA transcription is regulated by the very RNA it produces, which acts as more than a messenger between DNA and proteins. Even more surprising, RNA does not regulate only one layer of gene expression: the master of genes of the body has two layers of regulation (prediction: more will be found). Regulation of regulation (no typo here) of gene activation is the vital concept underlying interactionof our DNA with signals from the environment. The exciting field of genomics encompasses much more than understanding single gene expression (genetics). Rather, researchers seek to sequence and map the full genome, and how it relates to thetranscriptome (RNA), proteins (proteome) and small molecular compounds (metabolome).

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For the record, the genomic test is actually a transcriptomics test.