한빛사논문
- 조회470
Ryul Kim 1,14, Seokhwi Kim 2,14, Brian Baek-Lok Oh 1,14, Woo Sik Yu 3, Chang Woo Kim 4, Hoon Hur 4, Sang-Yong Son 4, Min Jae Yang 5, Dae Sung Cho 6, Taeyang Ha 7, Subin Heo 7,13, Jeon Yeob Jang 8, Jae Sung Yun 7, Kyu-Sung Kwack 7, Jai Keun Kim 7, Jimi Huh 7, Sun Gyo Lim 5, Sang-Uk Han 4, Hyun Woo Lee 9, Ji Eun Park 10, Chul-Ho Kim 8, Jin Roh 2, Young Wha Koh 2, Dakeun Lee 2, Jang-Hee Kim 2, Gil Ho Lee 5, Choong-Kyun Noh 5, Yun Jung Jung 10, Ji Won Park 10, Seungsoo Sheen 10, Mi Sun Ahn 9, Yong Won Choi 9, Tae-Hwan Kim 9, Seok Yun Kang 9, Jin-Hyuk Choi 9, Soo Yeon Baek 4, Kee Myung Lee 5, Sun Il Kim 6, Sung Hyun Noh 11, Se-Hyuk Kim 11, Hyemin Hwang 9, Eunjung Joo 1, Shinjung Lee 1, Jong-Yeon Shin 1, Ji-Young Yun 1, Junggil Park 1, Kijong Yi 1, Youngoh Kwon 1, Won-Chul Lee 1, Hansol Park 1, Joonoh Lim1, Boram Yi 1, Jaemo Koo 1, June-Young Koh 1, Sangmoon Lee 1, Yuna Lee 1, Bo-Rahm Lee 1, Erin Connolly-Strong 1, Young Seok Ju 1,* and Minsuk Kwon 9,12,*
1Inocras, San Diego, CA, USA.
2Department of Pathology, Ajou University School of Medicine, Suwon, Republic of Korea.
3Department of Thoracic and Cardiovascular Surgery, Ajou University School of Medicine, Suwon, Republic of Korea.
4Department of Surgery, Ajou University School of Medicine, Suwon, Republic of Korea.
5Department ofGastroenterology, Ajou University School of Medicine, Suwon, Republic of Korea.
6Department of Urology, Ajou University School of Medicine, Suwon, Republic of Korea.
7Department of Radiology, Ajou University School of Medicine, Suwon, Republic of Korea.
8Department of Otolaryngology, Ajou University School of Medicine, Suwon, Republic of Korea.
9Department of Hematology-Oncology, Ajou University School of Medicine, Gyeonggi-do, Republic of Korea.
10Department of Pulmonary and Critical Care Medicine, Ajou University School of Medicine, Suwon, Republic of Korea.
11Department of Neurosurgery, Ajou University School of Medicine, Gyeonggi-do, Republic of Korea.
12Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
13Present address: Department of Radiology and Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
14These authors contributed equally: Ryul Kim, Seokhwi Kim, Brian Baek-Lok Oh.
*Corresponding authors: correspondence to Young Seok Ju or Minsuk Kwon
Abstract
Genomic alterations in tumors play a pivotal role in determining their clinical trajectory and responsiveness to treatment. Targeted panel sequencing (TPS) has served as a key clinical tool over the past decade, but advancements in sequencing costs and bioinformatics have now made whole-genome sequencing (WGS) a feasible single-assay approach for almost all cancer genomes in clinical settings. This paper reports on the findings of a prospective, single-center study exploring the real-world clinical utility of WGS (tumor and matched normal tissues) and has two primary objectives: (1) assessing actionability for therapeutic options and (2) providing clarity for clinical questions. Of the 120 patients with various solid cancers who were enrolled, 95 (79%) successfully received genomic reports within a median of 11 working days from sampling to reporting. Analysis of these 95 WGS reports revealed that 72% (68/95) yielded clinically relevant insights, with 69% (55/79) pertaining to therapeutic actionability and 81% (13/16) pertaining to clinical clarity. These benefits include the selection of informed therapeutics and/or active clinical trials based on the identification of driver mutations, tumor mutational burden (TMB) and mutational signatures, pathogenic germline variants that warrant genetic counseling, and information helpful for inferring cancer origin. Our findings highlight the potential of WGS as a comprehensive tool in precision oncology and suggests that it should be integrated into routine clinical practice to provide a complete image of the genomic landscape to enable tailored cancer management.
논문정보
- Research article
- 2024년 08월 (BRIC 등록일 2024-08-14)
- 국내(교신)+국외 연구진
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