CUHK Passions and Pursuits

25 carrier of beta-thalassaemia from the father’s side, which should not cause any serious postnatal problems. By carefully sequencing the maternal plasma DNA, Professor Lo’s team has been able to reveal the genome-wide genetic and mutational profile of the fetus. The implication of this ground-breaking research is that by analysing a blood sample from the pregnant woman the entire genome of the fetus can be deduced and screened for many possible genetic disorders in one go. The plasma DNA analysis can not only be applied in prenatal tests but also cancer screening. In 2013–2016, Professor Lo and his team conducted a study of screening nasopharyngeal carcinoma (NPC) using plasma DNA analysis and the result is promising. By detecting the Epstein-Barr virus DNA, which is released by NPC tumour cells into the patient’s plasma, early diagnosis of NPC can be achieved. Professor Lo’s study involved 20,174 Chinese males aged between 40 and 60 without NPC symptoms. Among them, 309 participants had tested positive on the initial and follow-up blood tests and 34 were diagnosed with NPC. The predictive value is 11%, higher than the average of 3% of normal cancer screenings. The research was selected by The New England Journal of Medicine as one of the ‘Notable Articles of 2017’. What Professor Lo is doing is to reveal the mystery of diseases and deficiencies in ever-increasing numbers of pixels which will enhance prevention and even treatment. He takes aim at the present for possible answers to the future. The future for patients who would benefit from Professor Lo’s scientific innovations is indeed bright.