Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy

• Published in: Journal of human genetics 2024-09
• Main Authors: Shimada, Saki, Yamada, Takahiro, Minamoto, Akari, Matsukawa, Manami, Yabe, Ichiro, Tada, Hiroshi, Oda, Katsutoshi, Ueki, Arisa, Higashigawa, Satomi, Morikawa, Maki, Sato, Yuki, Hirasawa, Akira, Ogawa, Masanobu, Kondo, Tomohiro, Yoshioka, Masahiro, Kanai, Masashi, Muto, Manabu, Kosugi, Shinji
• Format: Article
• Language: English
• ISSN: 1434-5161; 1435-232X; 1435-232X
• DOI: 10.1038/s10038-024-01294-x

We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situation has changed: increase in the number of hospitals that provide CGP, an update to the Comprehensive Tumor Genomic Profiling: Materials for Review of Secondary Findings (CTGPMRSF), and the addition of a liquid biopsy test, FoundationOne Liquid CDx (F1L). Moreover, the actual situation was unclear because the 2020 survey did not include all designated and cooperative hospitals. Herein, we conducted a questionnaire survey of all designated-core, designated, and cooperative hospitals to identify the current status and challenges concerning SF in the CGP in 2022. A total of 82.1% of the hospitals responded and 77.7% of the response was from cooperative hospitals. Approximately 80% of the hospitals used CTGPMRSF. SF disclosure, confirmatory test implementation, and SF confirmation rates were 12.4%, 31.6%, and 46.6% for FoundationOne CDx (F1CDx), respectively, and 6.8%, 31.8%, and 70.7% for F1L, respectively. The implementation rate of the confirmatory test was substantially higher in hospitals with genetic experts and in hospitals that could conduct confirmatory tests on the same day. Our survey provides insight into how SF is handled in Japan. The percentage of cases leading to confirmatory tests has gradually increased, although challenges such as insurance coverage limitations and varied understanding of SF among patients and healthcare providers persist. With the increasing use of whole-genome analysis, our findings will provide valuable insights into establishing an effective SF disclosure system.