Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan

Abstract Introduction Comprehensive genome profiling (CGP) has revolutionized healthcare by offering personalized medicine opportunities. However, its real‐world utility and impact remain incompletely understood. This study examined the extent to which CGP leads to genomically matched therapy and it...

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Main Authors: Kei Kunimasa, Naotoshi Sugimoto, Tomoyuki Yamasaki, Yoji Kukita, Fumie Fujisawa, Tazuko Inoue, Yuko Yamaguchi, Mitsuko Kitasaka, Daisuke Sakai, Keiichiro Honma, Toru Wakamatsu, Sachiko Yamamoto, Takuji Hayashi, Seiji Mabuchi, Jun Okuno, Takahisa Kawamura, Yugo Kai, Makiko Urabe, Kazuo Nishimura
Format: Article
Language:English
Published: Wiley 2024-09-01
Series:Cancer Medicine
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Online Access:https://doi.org/10.1002/cam4.70249
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author Kei Kunimasa
Naotoshi Sugimoto
Tomoyuki Yamasaki
Yoji Kukita
Fumie Fujisawa
Tazuko Inoue
Yuko Yamaguchi
Mitsuko Kitasaka
Daisuke Sakai
Keiichiro Honma
Toru Wakamatsu
Sachiko Yamamoto
Takuji Hayashi
Seiji Mabuchi
Jun Okuno
Takahisa Kawamura
Yugo Kai
Makiko Urabe
Kazuo Nishimura
author_facet Kei Kunimasa
Naotoshi Sugimoto
Tomoyuki Yamasaki
Yoji Kukita
Fumie Fujisawa
Tazuko Inoue
Yuko Yamaguchi
Mitsuko Kitasaka
Daisuke Sakai
Keiichiro Honma
Toru Wakamatsu
Sachiko Yamamoto
Takuji Hayashi
Seiji Mabuchi
Jun Okuno
Takahisa Kawamura
Yugo Kai
Makiko Urabe
Kazuo Nishimura
author_sort Kei Kunimasa
collection DOAJ
description Abstract Introduction Comprehensive genome profiling (CGP) has revolutionized healthcare by offering personalized medicine opportunities. However, its real‐world utility and impact remain incompletely understood. This study examined the extent to which CGP leads to genomically matched therapy and its effectiveness. Methods We analyzed data from advanced solid tumor patients who underwent CGP panel between December 2019 and May 2023 at the Osaka International Cancer Institute. Patient demographics, specimen details, and expert panel assessments were collected. Turnaround time (TAT) and genomically matched therapy outcomes were analyzed. Gene alterations and their co‐occurrence patterns were also assessed. Results Among 1437 patients, 1096 results were available for analysis. The median TAT was 63 [28–182] days. There were 667 (60.9%) cases wherein recommended clinical trials were presented and there were 12 (1.1%) cases that could be enrolled in the trial and 25 (2.3%) cases that could lead to therapies under insurance reimbursement. The median progression free survival of the trial treatment was 1.58 months (95% CI: 0.66–4.37) in clinical trials and 3.66 months (95% CI: 2.14–7.13) in treatment under insurance. Pathologic germline variants were confirmed in 15 patients (1.3%). Co‐alteration of CDKN2A, CDKN2B, and MTAP was significantly observed in overall population. Conclusion The effectiveness of the genomically matched therapy based on the CGP panel was unsatisfactory. Expansion of clinical trials and utilization of remote clinical trials are required to ensure that the results of the CGP panel can be fully returned to patients.
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spelling doaj-art-53191da167c842a595bde87157a3ece02025-08-20T03:21:47ZengWileyCancer Medicine2045-76342024-09-011318n/an/a10.1002/cam4.70249Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in JapanKei Kunimasa0Naotoshi Sugimoto1Tomoyuki Yamasaki2Yoji Kukita3Fumie Fujisawa4Tazuko Inoue5Yuko Yamaguchi6Mitsuko Kitasaka7Daisuke Sakai8Keiichiro Honma9Toru Wakamatsu10Sachiko Yamamoto11Takuji Hayashi12Seiji Mabuchi13Jun Okuno14Takahisa Kawamura15Yugo Kai16Makiko Urabe17Kazuo Nishimura18Department of Thoracic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Diagnostic Pathology and Cytology Osaka International Cancer Institute Osaka JapanMusculoskeletal Oncology Service Osaka International Cancer Institute Osaka JapanDepartment of Gastrointestinal Oncology Osaka International Cancer Institute Osaka JapanDepartment of Urology Osaka International Cancer Institute Osaka JapanDepartment of Gynecology Osaka International Cancer Institute Osaka JapanDepartment of Breast and Endocrine Surgery Osaka International Cancer Institute Osaka JapanDepartment of Thoracic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Hepatobiliary and Pancreatic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Hepatobiliary and Pancreatic Oncology Osaka International Cancer Institute Osaka JapanDepartment of Genetic Oncology Osaka International Cancer Institute Osaka JapanAbstract Introduction Comprehensive genome profiling (CGP) has revolutionized healthcare by offering personalized medicine opportunities. However, its real‐world utility and impact remain incompletely understood. This study examined the extent to which CGP leads to genomically matched therapy and its effectiveness. Methods We analyzed data from advanced solid tumor patients who underwent CGP panel between December 2019 and May 2023 at the Osaka International Cancer Institute. Patient demographics, specimen details, and expert panel assessments were collected. Turnaround time (TAT) and genomically matched therapy outcomes were analyzed. Gene alterations and their co‐occurrence patterns were also assessed. Results Among 1437 patients, 1096 results were available for analysis. The median TAT was 63 [28–182] days. There were 667 (60.9%) cases wherein recommended clinical trials were presented and there were 12 (1.1%) cases that could be enrolled in the trial and 25 (2.3%) cases that could lead to therapies under insurance reimbursement. The median progression free survival of the trial treatment was 1.58 months (95% CI: 0.66–4.37) in clinical trials and 3.66 months (95% CI: 2.14–7.13) in treatment under insurance. Pathologic germline variants were confirmed in 15 patients (1.3%). Co‐alteration of CDKN2A, CDKN2B, and MTAP was significantly observed in overall population. Conclusion The effectiveness of the genomically matched therapy based on the CGP panel was unsatisfactory. Expansion of clinical trials and utilization of remote clinical trials are required to ensure that the results of the CGP panel can be fully returned to patients.https://doi.org/10.1002/cam4.70249clinical trialcomprehensive genomic profilinggenomically matched therapyreal world datasolid tumor
spellingShingle Kei Kunimasa
Naotoshi Sugimoto
Tomoyuki Yamasaki
Yoji Kukita
Fumie Fujisawa
Tazuko Inoue
Yuko Yamaguchi
Mitsuko Kitasaka
Daisuke Sakai
Keiichiro Honma
Toru Wakamatsu
Sachiko Yamamoto
Takuji Hayashi
Seiji Mabuchi
Jun Okuno
Takahisa Kawamura
Yugo Kai
Makiko Urabe
Kazuo Nishimura
Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan
Cancer Medicine
clinical trial
comprehensive genomic profiling
genomically matched therapy
real world data
solid tumor
title Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan
title_full Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan
title_fullStr Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan
title_full_unstemmed Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan
title_short Real‐world assessment of comprehensive genome profiling impact on clinical outcomes: A single‐institution study in Japan
title_sort real world assessment of comprehensive genome profiling impact on clinical outcomes a single institution study in japan
topic clinical trial
comprehensive genomic profiling
genomically matched therapy
real world data
solid tumor
url https://doi.org/10.1002/cam4.70249
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