Improved next generation sequencing to detect ultra-rare, cancer gene mutations in circulating cell-free DNA in blood

It has been well documented that the release of cell-free DNA into the bloodstream in patients with various types of cancer. There has been growing interest in trying to use such circulating tumour DNA as a non-invasive biomarker to detect the presence of malignancy, follow treatment response, gauge prognosis, or monitor for recurrence. However, current methods have significant limitations. Next Generation Sequencing (NGS) has revolutionised genomic exploration and analysis by making possible simultaneous sequencing of hundreds of billions of base pairs at a fraction of the time and cost of traditional methods. However, the sensitivity of this method is limited by the inherent error rate of the sequencer, as incorrectly read bases might be mistaken for true mutant copies. To overcome this limitation, GeneFirst has developed a method termed Targeted BiDirectional Sequencing technology. This is potentially suitable for detecting rare mutations in circulating cell-free DNA in blood.