Until then, pregnant women at relatively high risk of fetal chromosomal or genetic disorders were tested using amniocentesis in which fluid is extracted from the amniotic liquid surrounding a baby in the womb – a procedure using a needle that carries a one in 200 risk of miscarriage.
Professor Lo discovered that the DNA of an unborn baby can be found in the mother’s blood plasma and could be isolated and detected robustly.
With the help of leaps forward in DNA sequencing technology, his Down syndrome blood test was launched in 2011 and is today available in more than 90 countries and benefits millions of pregnant women every year.
Professor Lo said, “We have basically created a non-invasive window to the body.”
Professor Lo’s blood tests and their ability to detect minute genetic abnormalities at an early stage are now being used in one of the greatest medical challenges of our time – the fight against cancer. “Our team has dreamt about the possibilities of catching multiple types of cancer early, when we can do something in a timely manner,” said Professor Lo.
Blood tests have been carried out by his team on more than 20,000 middle-aged men in Hong Kong to check for early signs of a type of cancer located at the back of the nose, near the upper throat, known as nasopharyngeal cancer. This form of cancer is typically detected in late stages.
In particular, the three-year study focussed on detecting the DNA from a virus that is consistently associated with this cancer in China. Professor Lo believes the test has the potential to halve the mortality rate from this cancer.
More than 800 cases of nasopharyngeal carcinoma are recorded in Hong Kong every year, making it the 10th most common cancer and the sixth most common among men. Professor Lo hopes the screening method he has pioneered will be widely used after the successful trials.
The prenatal testing programme at CUHK has a host of international collaborators including the VU University Medical Center in the Netherlands, the Royal College of Surgeons in Ireland, Imperial College London in the UK, and the Icahn School of Medicine at Mount Sinai in the US.
Professor Lo has received numerous national and international awards for his revolutionary work in detecting cell-free fetal DNA in maternal plasma. In 2016, he was named Thomson Reuters Citation Laureate – Chemistry and was honoured with the Future Science Prize – Life Science Prize, widely regarded as China’s Nobel Prize. He was listed among the Top 20 Translational Researchers of 2016 by the authoritative scientific journal Nature Biotechnology.
“We shall continue to strive to push forward the field of molecular diagnosis,” said Professor Lo. “We hope to further enhance the accuracy and broaden the applications of non-invasive prenatal testing and cancer detection.”