Genomic Testing Strategies for Research through to Clinical Studies

As genomic technologies develop and mature, adoption moves from the research environment into the clinical setting.  Previously, where Sanger and qPCR were the most rational choices to commercialize a diagnostic, NGS has become the biomarker testing methodology of choice.  Additionally, other emerging technologies and platforms like NanoString are finding their way into clinical trials as well as routine diagnostics.  With advances in technology, biomarker testing strategies have also evolved with a trend toward higher order multiplexed technologies as well as cross modality testing from a single sample to understand correlations between DNA, RNA and protein markers.  More data may be over burdensome to analyze, while a focused assay may miss an opportunity for collecting potentially valuable data.  Without a straightforward “rule of thumb” for which genomics technology to use when, thoughtful consultation is required.  This presentation will discuss the various factors and consideration points for choosing a genomic biomarker testing strategy to support biomarker projects.