Research

“Next Generation Sequencing tests produce sequences of huge numbers of different DNA strands at once.  These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering in a fully understood and personalized medicine in the near future.

Targeted sequencing an application based on Next Generation Sequencing allows in-depth analysis of selected genes that enables scientists, physicians as well as healthcare providers to determine the impact of specific genetic variants of diseases and their therapeutic responses.

Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology.  Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain.

Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (ccfDNA) correlates with tumor staging and prognosis.  Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of ccfDNA for somatic genomic alterations found in tumors.  The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.