Symposium 11 - Genetics and Genomics II

About 5-10% of breast cancer and 10-15% of ovarian cancer are hereditarily related. The Breast Cancer Registry encountered many breakthroughs in the past 15 years. Genetic testing has been offered to >4700 high-risk patients over the past decade under a research program. Laboratory technology improved from deciphering DNA codes with a capacity of 600 base pairs per test, in classical Sanger sequencing, to 1 terabyte of data, in the latest next-generation sequencing and nanopore sequencing technology. The testing panel was extended from merely two genes (BRCA1 and BRCA2) to a more comprehensive detailed analysis of 93 genes, and ad hoc whole exome/genome surveillance. The mutation pickup rate increased from 10.7% (only BRCA1 and BRCA2 genes) to 14.7% (extended panel). Mutations were often identified in patients with multiple cancers (30%), triple-negative breast cancer (24%), bilateral breast cancers (21%) or male breast cancer (18%). We learned that family history is the major factor for those cancer-free high-risk subjects. The aggregated pathogenic mutation rate of the 6 Hereditary Breast and Ovarian Cancer HBOC genes (BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53) increased from 4.6% to 17.8% with increases in young-onset breast cancer family members, and a further rise to 50% for those with young-onset breast cancer and ovarian cancer in their family. Currently, these important genetic services for hereditary breast and ovarian cancers in Hong Kong are funded together by the Hospital Authority (BRCA testing for ovarian cancer) and charity The Registry. HA supports the genetic counseling service and the partially support the subsequent cascade of surgical/medical management of individuals. Our charity-supported ( The Registry ) offers advanced genetic testing in a state-of-the-art laboratory, annual intensive breast screening health service and use of parp inhibitors of metastatic ovarian cancer patients. 

Professor David Rowitch MD PhD ScD FMedSci FRS is a developmental neuroscientist and Head of Paediatrics at the University of Cambridge. His laboratory in the Wellcome-MRC Cambridge Stem Cell Institute investigates genetic factors that determine diversity of glia, which comprise 90% of cells in the human brain.  


He has applied a developmental neuroscience perspective to better understand white matter injury in premature infants and multiple sclerosis, and he uses genomic technologies to better diagnose and treat serious neurogenetic disorders in children. An example of his pioneering work is on the rare, fatal leukodystrophy Pelizaeus-Merzbacher disease (PMD), which affects young boys, where conducted the first human clinical trial of direct neural stem cell transplantation. 


In this talk, Professor Rowitch will cover how advances in genomic technologies over 70 years in Cambridge are providing new opportunities for diagnosis new treatments to improve children’s health. He will describe new efforts in the UK National Health Services to bring cutting-edge genomic tools to the bedside for better diagnosis and precision medicine with a focus on neurological conditions such as epilepsy and cerebral palsy.

Genomic medicine is an evolving discipline in Hong Kong. It is quite challenging but promising not only the diagnosis but also to the management for patient, especially for  patients and families with rare disease. In this talk, speaker will talking about the basic and new development of genomic medicine and genetic counselling, as well as their application in clinic setting.