2024 서울대학교 의료 인공지능 융합인재 양성 사업단(snuaimed.org) 세미나 시리즈 'SNU AI.MED Talks 24'의 두번째 세미나에 여러분을 초대합니다.
이번 세미나에서는 Inocras의 Cheif Product Officer이자 안과 전문의인 오백록 CPO가 'Turning DNA data into action with whole genome insight: Unlocking the new era of precision health’을 주제로 강연합니다.
관심있는 분들의 많은 참여를 부탁드립니다.
- 일시 : 2024.4.25.(목) 16:00-17:00
- 장소 : 온라인(via Zoom) https://snu-ac-kr.zoom.us/j/
- 주제 : Turning DNA data into action with whole genome insight: Unlocking the new era of precision health
Abstract
In this talk, we will embark on a journey through the fascinating world of genome sequencing, starting with its origins and leading up to its current and potential future applications in clinical settings. The story begins with the ambitious Human Genome Project, which was the first concerted effort to sequence the entire human genome. This monumental project, costing nearly $3 billion and taking about 13 years to complete, aimed to create a reference sequence by analyzing the DNA from a small group of individuals. Its success laid down the foundational knowledge upon which all subsequent genetic research has been built.
As we progressed from the Human Genome Project, technological advancements, particularly in massively parallel sequencing, significantly reduced the cost and time required for sequencing. Despite these advances, the initial clinical application of sequencing technologies leaned towards targeted panel sequencing. This approach, while cost-effective and easier to manage data-wise, sacrifices the comprehensive insight offered by whole genome sequencing (WGS). Targeted panel sequencing was favored in clinical settings due to its specificity and the then-prohibitive costs and complexities associated with WGS.
However, the true value of WGS extends far beyond the capacity to analyze a larger number of genes simultaneously. It is instrumental in identifying complex mutations and variations that targeted panel sequencing and whole exome sequencing often miss. Studies have shown that between 15-25% of mutations detectable by WGS can be overlooked by these targeted methods. This gap highlights the importance of WGS in providing a more complete picture of an individual's genetic makeup, essential for understanding various genetic disorders and tailoring personalized treatment plans.
In recent years, we have seen a shift towards overcoming the initial hurdles that limited the clinical application of WGS. These challenges, including high costs, significant data management requirements, and the need for advanced analysis tools, are being addressed through technological advancements and innovative solutions. This progress is making WGS more accessible and feasible for routine clinical use.
I will also delve into several clinical cases where WGS has been successfully applied, showcasing its impact on diagnosing and treating genetic disorders. These examples will illustrate the practical benefits of WGS in a clinical context, demonstrating its potential to revolutionize patient care by enabling more accurate diagnoses and personalized treatment strategies.
Even though several challenges remain, looking ahead, the future of WGS in clinical applications appears promising. As we continue to advance our technologies and reduce costs, the integration of WGS into routine clinical practice becomes increasingly viable. This transition will require not only technological innovation but also changes in clinical infrastructure, data management strategies, and policy frameworks to fully leverage the potential of WGS in improving patient outcomes.
In conclusion, the journey from the inception of the Human Genome Project to the present day underscores the remarkable progress we have made in the field of genetics. The evolution of genome sequencing technologies, particularly WGS, has opened new frontiers in medical research and patient care. As we overcome existing challenges and embrace future advancements, WGS stands poised to play a pivotal role in the era of personalized medicine, offering hope for better understanding, diagnosing, and treating genetic disorders.
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SAVE THE DATE!
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09/12(목) 최재식 교수 | KAIST 김재철AI대학원
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11/14(목) 도재영 교수 | 서울대학교 공과대학 전기·정보공학부
12/05(목) TBD