貢獻香港基因組計劃 Contributing to Hong Kong Genome Project 政府2021 年開展香港基因組計劃，涵蓋未能確診 病症、遺傳相關癌症，及與精準醫學有關的個案。 計劃旨在提供更準確診斷及有效治療，同時建立本 地基因組數據庫，促進科研及基因組的臨床應用。 本院是計劃其中一間夥伴中心，負責招募合適患者 自願接受全基因組測序，及提供輔導和臨床轉介。 The government launched the Hong Kong Genome Project in 2021, covering cases with undiagnosed diseases, hereditary cancers, and those related to precision health. It aims to benefit patients with more precise diagnoses and personalised treatment. At the same time, the data collected will be used to build a genome database of the local population to facilitate the clinical application of genomic medicine and scientific research. The HKCH is one of the partnering centres of the project to recruit suitable patients for receiving whole genome sequencing on a voluntary basis, and offer pre- and post-test counselling and clinical referral. 病人和家屬一起接受遺 傳輔導，希望透過基因 測序找到病因。 A patient and his parents having genetic counselling, hoping to get a diagnosis through genome sequencing. 香港兒童醫院是不常見疾病的轉介中心。因應《施政 報告》的方向，本院逐步為個別不常見疾病建立資料 庫，冀為醫療服務規劃和臨床診斷治療提供參考。 編製資料庫過程中利用了大數據及人工智能技術， 再經醫護人員核實分析，得出每種疾病在醫管局轄 下的病人總數、年齡組別、性別，及在世/ 死亡狀 況。資料庫現時涵蓋30 多種疾病，我們計劃參考 國家罕見病目錄繼續擴展資料庫，添加更多病種。 HKCH is the referral centre for uncommon disorders. With the directive of the Policy Address, we have developed a database for individual uncommon disorders in phases to facilitate healthcare service planning and provide reference for diagnosis and treatment. It makes use of big data and artificial intelligence with input from healthcare professionals in verification and analysis, and lists out the total patient number, age group, gender, and alive / death status of each disease within HA. More than 30 diseases are now covered in the database, and it will continue to expand with reference to the national catalogue of rare diseases. 資料庫涵蓋的不常見疾病 Coverage of uncommon disorders database 建立不常見疾病資料庫 Building the Uncommon Disorders Database 腦科疾病 Neurological diseases 病種持續增加 More diseases to be added 先天性代謝病 Metabolic diseases 內分泌疾病 Endocrine diseases 63 Hong Kong Children’s Hospital 5th Anniversary Commemorative Album 香港兒童醫院 五周年紀念特刊 守護民康 Safeguarding the Community
RkJQdWJsaXNoZXIy MjQwOTYxOQ==