| 公告主旨 |
12/10基蛋所演講—鄧詩敏老師 主講：Return of secondary findings in next generation sequencing: what are the concerns? |
| 公告內容 |
12月基蛋所第2場演講，很榮幸邀請香港大學鄧詩敏老師，地點在405講堂，非每月舉辦之202講堂。
[講題]：Return of secondary findings in next generation sequencing: what are the concerns?
[講者]：Dr. Clara Sze-man Tang （鄧詩敏）
Research Assistant Professor, Department of Surgery, The University of Hong Kong
（CV: https://reurl.cc/D1x7XQ）
[時間]：12/10 （星期二） 上午 11：20-12：10
[地點]：醫學院基醫大樓405講堂（非每月舉辦之202講堂）
[摘要]：
Next generation sequencing （NGS） has been increasingly adopted in research and clinical practices. In the past years, cost of whole exome sequencing and whole genome sequencing （WGS） have dropped dramatically towards a new target of USD100 genome. Many large-scale population-based and disease-centric genome sequencing projects have commenced, signifying the emergence of NGS as the norm for genetic analysis. Clinical laboratories have also routinely incorporated NGS in genetic diagnosis of inherited disorders, particularly for rare congenital diseases. The increasing use of NGS raises important questions about how to handle the genetic information that may inform prevention or treatment strategies for disease（s） not associated with the symptoms in which the sequencing is ordered. To date, our team has handled >2000 NGS samples in research settings. Through a large-scale WGS study, we refined the rate of secondary findings in accordance with the ACMG/AMP guidelines on East Asians in which 2.5% of our participants carry clinically actionable variants. Our recent experiences in the exploration of expanded carrier screening for recessive debilitating disorders in these NGS samples will also be shared.
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12月第1場演講邀請本院陳耀昌名譽教授，請見：https://reurl.cc/e5pgnQ
臺大基蛋所 陳沛隆所長 敬邀
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