Lesser-known perspectives of DNA testing

The first bioinformatician in HA

“I am glad to join the NIPT team and become the first bioinformatician in HA to contribute to this new service. I mainly work on computer programming and data analysis through transforming next-generation sequencing raw data into biodata. Results of such analyses will help pathologists discover congenital abnormalities. Having a bachelor degree in genetic engineering and studying computer science and statistics, I handled data analysis of prenatal diagnosis in university before joining Hong Kong Children’s Hospital. The field of bioinformatics develops rapidly, I must keep abreast of the latest research and knowledge in order to introduce new technology to NIPT service.”

Smart use of maximum $10,000 for low-risk mum

Public hospitals will provide second-tier NIPT and CMA services for high-risk pregnant women. For low-risk mums who are not eligible for either NIPT or CMA in public hospitals but want to know more about condition of their foetus, Dr Leung points out that spending maximum $10,000 is good enough for one to have more information by doing prenatal genetic and genomic tests in private medical organisations. “Take an NIPT as first-tier screening for around $5,000; followed by a foetal anomaly ultrasound examination for $3,000, which is not offered to pregnant women under 35 in public hospitals.” Dr Leung highlights that there are numerous suppliers of NIPT in the market, most of which have more or less similar performance. Doing the test once is sufficient. Moreover, expectant mothers should not miss the ultrasound examination for foetal nuchal translucency, skin thickness at the back of the baby’s neck, be it done in a public hospital or private clinic. High nuchal translucency (≥3.5mm) not only indicates the risk of Down syndrome but also other congenital abnormalities.

Academy offers specialist training in Genetics and Genomics

The Hong Kong College of Pathologists under Hong Kong Academy of Medicine has launched a two-year post-fellowship on-the-job training programme in the field of genetics and genomics in anatomical pathology, chemical pathology, haematology and immunology. The first batch of fellowship will be awarded in late 2019. Besides, Genetics and Genomics (Paediatrics) is a new subspecialty set up by Hong Kong College of Paediatricians, providing specialist training on genetic assessment, diagnostic investigation with the use of genetic technologies, and genetic counselling for individuals or families with, or at risk of, hereditary disorders. The first batch of fellow was conferred in 2017.