Experimental and Molecular Medicine (Aug 2024)
Clinical application of whole-genome sequencing of solid tumors for precision oncology
- Ryul Kim,
- Seokhwi Kim,
- Brian Baek-Lok Oh,
- Woo Sik Yu,
- Chang Woo Kim,
- Hoon Hur,
- Sang-Yong Son,
- Min Jae Yang,
- Dae Sung Cho,
- Taeyang Ha,
- Subin Heo,
- Jeon Yeob Jang,
- Jae Sung Yun,
- Kyu-Sung Kwack,
- Jai Keun Kim,
- Jimi Huh,
- Sun Gyo Lim,
- Sang-Uk Han,
- Hyun Woo Lee,
- Ji Eun Park,
- Chul-Ho Kim,
- Jin Roh,
- Young Wha Koh,
- Dakeun Lee,
- Jang-Hee Kim,
- Gil Ho Lee,
- Choong-Kyun Noh,
- Yun Jung Jung,
- Ji Won Park,
- Seungsoo Sheen,
- Mi Sun Ahn,
- Yong Won Choi,
- Tae-Hwan Kim,
- Seok Yun Kang,
- Jin-Hyuk Choi,
- Soo Yeon Baek,
- Kee Myung Lee,
- Sun Il Kim,
- Sung Hyun Noh,
- Se-Hyuk Kim,
- Hyemin Hwang,
- Eunjung Joo,
- Shinjung Lee,
- Jong-Yeon Shin,
- Ji-Young Yun,
- Junggil Park,
- Kijong Yi,
- Youngoh Kwon,
- Won-Chul Lee,
- Hansol Park,
- Joonoh Lim,
- Boram Yi,
- Jaemo Koo,
- June-Young Koh,
- Sangmoon Lee,
- Yuna Lee,
- Bo-Rahm Lee,
- Erin Connolly-Strong,
- Young Seok Ju,
- Minsuk Kwon
Affiliations
- Ryul Kim
- Inocras
- Seokhwi Kim
- Department of Pathology, Ajou University School of Medicine
- Brian Baek-Lok Oh
- Inocras
- Woo Sik Yu
- Department of Thoracic and Cardiovascular Surgery, Ajou University School of Medicine
- Chang Woo Kim
- Department of Surgery, Ajou University School of Medicine
- Hoon Hur
- Department of Surgery, Ajou University School of Medicine
- Sang-Yong Son
- Department of Surgery, Ajou University School of Medicine
- Min Jae Yang
- Department of Gastroenterology, Ajou University School of Medicine
- Dae Sung Cho
- Department of Urology, Ajou University School of Medicine
- Taeyang Ha
- Department of Radiology, Ajou University School of Medicine
- Subin Heo
- Department of Radiology, Ajou University School of Medicine
- Jeon Yeob Jang
- Department of Otolaryngology, Ajou University School of Medicine
- Jae Sung Yun
- Department of Radiology, Ajou University School of Medicine
- Kyu-Sung Kwack
- Department of Radiology, Ajou University School of Medicine
- Jai Keun Kim
- Department of Radiology, Ajou University School of Medicine
- Jimi Huh
- Department of Radiology, Ajou University School of Medicine
- Sun Gyo Lim
- Department of Gastroenterology, Ajou University School of Medicine
- Sang-Uk Han
- Department of Surgery, Ajou University School of Medicine
- Hyun Woo Lee
- Department of Hematology-Oncology, Ajou University School of Medicine
- Ji Eun Park
- Department of Pulmonary and Critical Care Medicine, Ajou University School of Medicine
- Chul-Ho Kim
- Department of Otolaryngology, Ajou University School of Medicine
- Jin Roh
- Department of Pathology, Ajou University School of Medicine
- Young Wha Koh
- Department of Pathology, Ajou University School of Medicine
- Dakeun Lee
- Department of Pathology, Ajou University School of Medicine
- Jang-Hee Kim
- Department of Pathology, Ajou University School of Medicine
- Gil Ho Lee
- Department of Gastroenterology, Ajou University School of Medicine
- Choong-Kyun Noh
- Department of Gastroenterology, Ajou University School of Medicine
- Yun Jung Jung
- Department of Pulmonary and Critical Care Medicine, Ajou University School of Medicine
- Ji Won Park
- Department of Pulmonary and Critical Care Medicine, Ajou University School of Medicine
- Seungsoo Sheen
- Department of Pulmonary and Critical Care Medicine, Ajou University School of Medicine
- Mi Sun Ahn
- Department of Hematology-Oncology, Ajou University School of Medicine
- Yong Won Choi
- Department of Hematology-Oncology, Ajou University School of Medicine
- Tae-Hwan Kim
- Department of Hematology-Oncology, Ajou University School of Medicine
- Seok Yun Kang
- Department of Hematology-Oncology, Ajou University School of Medicine
- Jin-Hyuk Choi
- Department of Hematology-Oncology, Ajou University School of Medicine
- Soo Yeon Baek
- Department of Surgery, Ajou University School of Medicine
- Kee Myung Lee
- Department of Gastroenterology, Ajou University School of Medicine
- Sun Il Kim
- Department of Urology, Ajou University School of Medicine
- Sung Hyun Noh
- Department of Neurosurgery, Ajou University School of Medicine
- Se-Hyuk Kim
- Department of Neurosurgery, Ajou University School of Medicine
- Hyemin Hwang
- Department of Hematology-Oncology, Ajou University School of Medicine
- Eunjung Joo
- Inocras
- Shinjung Lee
- Inocras
- Jong-Yeon Shin
- Inocras
- Ji-Young Yun
- Inocras
- Junggil Park
- Inocras
- Kijong Yi
- Inocras
- Youngoh Kwon
- Inocras
- Won-Chul Lee
- Inocras
- Hansol Park
- Inocras
- Joonoh Lim
- Inocras
- Boram Yi
- Inocras
- Jaemo Koo
- Inocras
- June-Young Koh
- Inocras
- Sangmoon Lee
- Inocras
- Yuna Lee
- Inocras
- Bo-Rahm Lee
- Inocras
- Erin Connolly-Strong
- Inocras
- Young Seok Ju
- Inocras
- Minsuk Kwon
- Department of Hematology-Oncology, Ajou University School of Medicine
- DOI
- https://doi.org/10.1038/s12276-024-01288-x
- Journal volume & issue
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Vol. 56,
no. 8
pp. 1856 – 1868
Abstract
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.