Proceedings of the Australasian Association of Clinical Biochemists’ 57th Annual Scientific Conference

Abstract

Over the past decade, there has been much interest in the biology and diagnostic applications of cell-free nucleic acids in plasma. Research in this area started with the demonstration of tumour-derived DNA and RNA molecules in the plasma of cancer patients. My group has a longstanding interest in using this approach for the detection and monitoring of cancer common in China, including nasopharyngeal carcinoma and lung cancer. My interest has since expanded into other species of circulating nucleic acids and has led to the discovery of cell-free fetal DNA and RNA in the plasma of pregnant women. The latter has allowed the non-invasive prenatal diagnosis of a number of fetal genetic diseases and traits (e.g. RhD blood group) from maternal blood. Progress in this area has been accelerated with the development of a number of powerful analytical tools. Recent examples include microfluidics digital PCR and next-generation DNA sequencing.