Routine application of genotyping a step closer: direct PCR on plasma

It is almost 70 years since Mandel and Metais (1) reported that nucleic acids are present in circulating plasma. This report of cell-free or cfDNA in plasma lay dormant for decades until the discovery that circulating tumour DNA is present as an admixture of normal DNA in the plasma (2,3). Today, genomic technologies, such as massively parallel sequencing (MPS), are being studied to realise predictions that these early discoveries would lead to clinical translation for cancer diagnosis, monitoring responses to treatment and prognosis (4).