Application of improved Next Generation Sequencing technology to identfy somatic mutations in circulating cell-free tumour DNA in blood.

Gene mutations have been validated as powerful predictive biomarkers in the management of various

cancers; testing for these mutations is currently standard to personalise treatment decisions. It has been

well documented that a broad spectrum of cancers release circulating cell-free tumour DNA (ctDNA) into

peripheral blood. There has been growing interest in use of ctDNA as a non-invasive biomarker to detect

the presence of malignancy, gauge prognosis, follow treatment response or monitor for recurrence. Next

Generation Sequencing (NGS) has revolutionised genomic exploration and is driving the implementation

of precision diagnostics. However, the sensitivity and accuracy of current NGS methods are limited which

is a fundamental limitation particularly when aiming to identify rare mutants in heterogeneous mixtures,

such as plasma ctDNA. To overcome these limitations, GeneFirst has developed an improved NGS

technology with increased sensitivity and accuracy for the detection of multiple mutations; this makes it

suitable for detecting ultra-rare cancer gene mutations in circulating cell-free tumour DNA in blood.