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Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey

Abstract

In June 2019, the Japanese National Health Insurance (NHI) system introduced coverage for two types of tumor genomic profiling (TGP): FoundationOne CDx (F1) and OncoGuide™ NCC OncoPanel System (NCCOP). TGP sometimes reveals germline variants that are potentially pathogenic as secondary findings (SFs). We conducted a questionnaire-based survey to find out the operational statuses of F1 and NCCOP at institutions where TGP was performed to elucidate issues related to SFs. Responses were received from 97 of 112 institutions (86.6%). As of May 31, 2020, 88 (90.7%) and 78 (80.4%) institutions started performing F1 and NCCOP, respectively. Since F1 only examines tumor samples, germline confirmatory testing is necessary to determine whether they are actually germline pathogenic variants (GPVs). When physicians are obtaining informed consent all but 2.3% of the patients requested SF disclosure. Conversely, when presumed germline pathogenic variants (PGPVs) were detected, 46.2% were not willing to receive confirmatory tests as they wanted to prioritize cancer treatment over SFs investigation, while only 23.3% underwent confirmatory tests. Problems in cancer genomic medicine reported by clinical genetics departments included short-staffing (n = 10), insufficient interdepartmental cooperation (n = 9), inconsistent understanding of genetics among healthcare professionals (n = 8), and low utilization rate of SFs due to lack of insurance coverage for confirmatory tests and post-test health checkups (n = 8). Solutions include; determining the appropriate timing to confirm patient intent on SF disclosure, covering confirmatory tests for PGPVs by the NHI, and establishing cooperation between the oncology and clinical genetics departments.

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References

  1. Japanese Society of Medical Oncology, Japanese Society of Clinical Oncology, Japanese Cancer Association. Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment, edition 2.1. 2020. https://www.jsmo.or.jp/about/doc/20200310.pdf.

  2. MHLW. Progress of efforts to promote cancer genomic medicine. 2019. https://www.mhlw.go.jp/content/10901000/000573711.pdf.

  3. Mukai Y, Ueno H. Establishment and implementation of Cancer Genomic Medicine in Japan. Cancer Sci. 2021;112:970–7.

    Article  CAS  Google Scholar 

  4. Japan Agency for Medical Research and Development. Proposal concerning the information transmission process in genomic medicine Part 1: Focusing on comprehensive tumor genomic profiling analysis, revised 2nd ed. 2019. https://www.amed.go.jp/content/000064662.pdf.

  5. MHLW. Report of the fact-finding survey of gene panel tests. 2019. https://www.mhlw.go.jp/content/10901000/000573712.pdf.

  6. MHLW. Report from liaison conference of designated core hospitals for cancer genomic medicine, etc. 2019. https://www.mhlw.go.jp/content/10901000/000573713.pdf.

  7. Stjepanovic N, Stockley TL, Bedard PL, McCuaig JM, Aronson M, Holter S, et al. Additional germline findings from a tumor profiling program. BMC Med Genomics. 2018;11:65.

    Article  Google Scholar 

  8. Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, et al. Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. Ann Oncol. 2016;27:795–800.

    Article  CAS  Google Scholar 

  9. Sunami K, Ichikawa H, Kudo T, Kato M, Fujiwara Y, Shimomura A, et al. Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: a hospital-based study. Cancer Sci. 2019;110:1480–90.

    Article  CAS  Google Scholar 

  10. Lebedeva A, Shaykhutdinova Y, Seriak D, Ignatova E, Rozhavskaya E, Vardhan D, et al. Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles. J Transl Med. 2022;20:29.

    Article  CAS  Google Scholar 

  11. Shimada S, Yamada T, Iwakuma M, Kosugi S Physicians’ perceptions of the factors influencing disclosure of secondary findings in tumour genomic profiling in Japan: a qualitative study. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00944-4.

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Acknowledgements

We would like to thank all personnel at the institutions that returned questionnaires. This study was supported by the Japan Ministry of Health, Labour and Welfare (grant numbers: 20AD1001).

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Correspondence to Takahiro Yamada.

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Minamoto, A., Yamada, T., Shimada, S. et al. Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey. J Hum Genet 67, 557–563 (2022). https://doi.org/10.1038/s10038-022-01028-x

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