香港兒童醫院在本港的遺傳及基因組醫學發展中扮演重要角 色。我們是各種不常見遺傳病的轉介中心，肩負促進其診治、 研究、專才培訓和認知的任務。 本院醫學遺傳科是醫管局首個提供臨床遺傳服務的單位，成員 包括遺傳學及基因組學專科（兒科）醫生、護士、遺傳輔導 員和生物信息學家，為患者及家人提供一站式評估、檢驗、診 斷、治療、輔導及預防服務。 為對付這些棘手病症，病理學部引入先進科技，提供多項精準 化驗，為患者偵查病因，預視及監測病情發展，協助臨床團隊 制訂治療方案。 遺傳及基因組醫學新世代 Era of Genetics and Genomics 遺傳輔導是醫學遺傳科的重點服務，向患者 及家人解釋基因檢測報告、潛在病徵和併發 症、遺傳方式、預防方法和生育風險等。 During genetic counselling, detailed explanations are given to patients and families about their genetic reports, potential symptoms and complications, mode of inheritance, means of prevention, and reproductive risks. The HKCH plays a key role in the development of genetics and genomic medicine in Hong Kong. As the territory-wide referral centre for uncommon genetic disorders, we shoulder the task to enhance the treatment, research, talent pool development and knowledge of these diseases. Our Department of Clinical Genetics is the first such unit in HA. It consists of specialists in Genetics and Genomics (Paediatrics), nurses, genetic counsellors and bioinformaticians. Patients and their families are offered one-stop care including assessment, investigation, diagnosis, treatment, counselling and prevention. In the war against uncommon diseases, the Department of Pathology is armed with an arsenal of advanced technologies to provide a wide spectrum of tests for precise diagnosis, prognostication and monitoring, enabling clinicians to formulate treatment plans. 遺傳及基因組學服務介紹 Introduction of genetics and genomics services 利用次世代定序儀進行大規模基因測序，作全 面的診斷分析。 Next generation sequencers are used to perform massively parallel sequencing of DNA to yield comprehensive analysis results. 病理學部的「遺傳及基因組學」分部為病人及家族成員進行遺傳病化驗。 The genetic and genomic division of the Department of Pathology conducts tests for inherited diseases for patients and family members. 49 Hong Kong Children’s Hospital 5th Anniversary Commemorative Album 香港兒童醫院 五周年紀念特刊 追求卓越 Pursuit of Excellence
RkJQdWJsaXNoZXIy MjQwOTYxOQ==