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Prof. Rossa Chiu on Genetic Diagnosis

Prof. Rossa Chiu, Department of Chemical Pathology (Photo by Cheung Wai-lok)

Please tell us something about your current research.

I'm primarily analysing the DNA materials in human blood samples, expanding the applications of blood tests with an aim to replace the need to collect biopsy samples which has a much higher risk. Conventionally, it was thought that organ tissues were required for DNA diagnoses. But in fact when cells die due to natural metabolism or illness, metabolic substances remain in the blood plasma. In 1997, Prof. Lo Yuk-ming Dennis discovered the presence of fetal DNA in the maternal blood plasma, and pioneered the use of such markers for fetal DNA diagnosis. In 2008, a non-invasive prenatal test for Down syndrome was developed, achieving a 99% accuracy within a short time. A convenient mode of application was soon found and the test is now used in many parts of the world. In 2010, we can decipher a genome-wide genetic map of the fetus through the analysis of the small amounts of fragmented DNA in the maternal blood. This allows us to develop non-invasive prenatal diagnostic tests for multiple genetic diseases in a non-invasive way. Currently, we can reconstruct genetic maps of liver, breast and ovarian cancer using blood samples. The aim is to develop methods for screening cancer and genetic mutations, that are non-invasive, widely applicable, and can be frequently carried out.

In the wake of the so-called Angelina effect, what is the role of the medical practitioner in advising people considering such 'preventative' actions?

Medically, Angelina Jolie's case is nothing new. Preventive organ removal has been accepted as a method of treatment for 20 years. Her uniqueness lies in publicizing her decision and the surgery. By doing so, she raises awareness of genetic diagnosis, and draws attention to the ethical principles doctors should have. Firstly, doctors should be knowledgeable about genetic disorders. Breast cancer is one of the main killers of women. About 10% of cases are caused by a BRCA1 gene mutation. People with the mutation have a probability of 80% and 40% respectively, of developing breast cancer and ovarian cancer before age 70. Those also harbouring the risk include the mother, sisters, maternal grandmother, daughter, even male members of the family. Doctors should tell patients with a family history of breast cancer about the BRCA1 test. Secondly, there should be adequate counselling, clear explanation of the test's limitation and what different results entail. For example, if the result is positive, family members may be under pressure to take the test. Thirdly, doctors should explain the pros and cons in detail—by how much surgery would reduce the risk, the surgical process, its potential physical and psychological effects, so that patients are well informed about whether they should take the test or undergo the surgery.

Genetic mapping has become a reality. What are the ethical issues?

Like any new technology, genetic diagnosis makes some people uncomfortable. It introduces new problems, but with adequate knowledge and effective application, it's nothing to worry about. Under a healthy medical system, like that in Hong Kong, all medical tests are referred by doctors and undergo a selection process. A case in point are tests for treatable hereditary diseases or illnesses with a family history such as Thalassemia. Doctors have to be strict gate-keepers, ensuring that testing technology is appropriately deployed and results are interpreted accurately.

You were chosen by Prof. Magnus Hjelm to take the path of research. What qualities would you look for if you were to identify someone to be your mentee or understudy?

Passion is what I look for first—a desire to serve and bring change. This is crucial if you want to stand out in the highly competitive global research arena. Logical thinking is also important. In doing research, having an eye for the non-obvious, yet the non-obvious is usually what the books don't cover. To find it, you need to examine millions of possibilities in the right order, following exact steps throughout. You will also need to be down-to-earth and have the modesty and objectivity to uncover the truth behind each step, rather than taking short-cuts and missing out on the whole picture. And accompanying all this are open-mindedness and the desire to challenge the impossible. If they are also good at oratory skills and self-expression, that's a bonus. Researchers do not hide in the lab all day. We communicate with funding organizations and the public. Getting people outside your field to understand complex concepts and support your research is an art in itself.

You have been characterized as a very good and efficient writer of research papers and proposals. What are the tricks?

Respect the reader. Before putting pen to paper, I contemplate what I want my readers to gain from my article. Professor Lo required us to write in a way that layman readers would comprehend and find instantly interesting. I place a lot on an article's underlying logic, striving for accessibility in the presentation of difficult concepts. It also has to be well written. I'd like my readers to give me a standing ovation after reading, as if it were a wonderful operatic performance. Grant proposals should be clear, to-the-point and concise, allowing the judging panel to grasp the main points and the value of the research within limited time. I was fortunate enough to have undergone rigorous writing training as a high school student in Australia. Every semester, we had to practice a different genre—argumentative, journalistic…. Eventually I learnt the ropes of good writing.

How do you see the numerous awards that have been presented to you?

I'm very grateful and honoured of course. The awards all have different criteria of judgment. Given the number of brilliant minds in the world, I was fortunate to have been chosen. But I warn myself against resting on my laurels. It inhibits progress. The prizes' greatest meaning lies not in personal honour, but in the people who had provided us with opportunities and research funding, as well as citizens who offered up samples. Winning shows that we have achieved something great that enjoys the world's recognition and changes lives, and that the support we garnered did not go to waste. I started doing research with Professor Lo as a graduate student in 1999. The next year he was honoured by the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). I was impressed, but had no idea I would win the Young Investigator Award from the same organization in 2011. The IFCC, the most international organization in our field, presents awards once every three years. It was particularly meaningful that I won its first ever Young Investigator Award in 2011. The Chinese Young Women in Science Fellowship is an interdisciplinary award. It was particularly exciting to be honoured alongside actuaries and physicists.

We all know you are an excellent researcher. How would you describe yourself as a teacher and a mother?

I give my all to every class I teach. Whether my students are professionals, graduate students or undergraduates, I would assess their standards and expectations, and ponder how to enable the most important information to make the deepest impression within the duration of the class. I adjust my teaching materials according to the students I have. During class, I watch their reaction; after class, I assess myself. Work is important, but it is finite. Family is eternal. My daughters are a crucial part of my life. I would not let my work eclipse my duties as a mother. My daughters appreciate and respect my work, and we're close. My active participation in the parents' association and school activities has led people to mistake me for being a full-time mom. My only regret is not having the time to study teaching methodology and have in-depth discussions with my seven-and-a-half-year-old twins.

What would you do in your 'me-time'?

I count myself extremely lucky. From choice of college, through specialization, to work, I have always done what I liked. All my time has been 'me-time'. I enjoy being a mom, I'm fond of watching my students' reaction in class, I love my research. Raising children or working does not tire me out. I have no need to find my own 'space' against all odds. If there's time, I might have a hair-cut or buy a pair of shoes. That's it.