Research
Targeted Sequencing: Precise identification of disease causing gene variants
“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.
Liquid Biopsies: Significance of circulating free DNA in cancer treatment
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.
Key points
- Next Generation Sequencing testing is key to exciting possibilities in medicine
- Personalized medicine will be helped by Next Generation Sequencing techniques
- Non-invasive liquid biopsies are next in line with advances in DNA testing
- Greater accuracy in cancer detection with improved DNA testing
- Great benefits to patients with better detection and quicker healing methods
Did you know?
Credence Genomics has the expertise to detect, quantify and track tumour dynamics.