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Precision management of gene-based tests not covered by the National Health Insurance system in Japan: a questionnaire-based study

Journal of Human Genetics volume 67, pages 311–321 (2022)Cite this article

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The National Health Insurance (NHI) of Japan is a system whereby all residents of Japan (including citizens and foreigners) must obtain public medical insurance, a requirement intended to reduce the burden of high medical expenses in the event of illness or accident. Since the clinical laboratories that conduct specimen tests covered by medical insurance are clinical laboratories that are registered by each prefecture, such laboratories need to demonstrate high levels of accuracy. However, there are no rules guaranteeing accuracy in facilities and laboratories that perform specimen tests not covered by NHI [1]. Clinical tests that analyze genes relevant to medical treatment are collectively called gene-based tests, and they are classified into three types: pathogen genetic testing (nucleic acid testing), human somatic genetic testing, and human germline genetic testing [2]. Gene-based tests have been reclassified as specimen tests by the Clinical Laboratory Law Enforcement Regulations enforced in December 2018, stipulating the use of quasi-work-procedure manuals and ledgers, record-of-work diaries, the implementation of internal quality control procedures, external quality assessment survey inspection, and appropriate training of personnel for precision management [3]. At the present time, Japan has listed 20 items under pathogen genetic testing, 19 under somatic genetic testing, and 140 syndromes (diseases) under germline genetic testing covered by the NHI system; however, the many remaining items are not covered by the NHI system [4]. Pathogen genetic testing accounts for the majority of the total number of gene-based tests. Additionally, despite the importance of such tests for the diagnosis and treatment of infectious diseases, new tests have to be implemented in facilities and laboratories every time a new infectious disease emerges (e.g., COVID-19); this process creates challenges in terms of quality control. The nature of gene-based tests in Japan requires an assessment of the precision management of tests not covered by the NHI. As mentioned above, gene-based tests not covered by insurance occupy an important position in Japan, but, unfortunately, the actual status of the guarantee of their accuracy is not understood, and many of them are not appropriately managed.

The aim of this study was to conduct a questionnaire-based study of facilities and laboratories in Japan and to assess the quality management of gene-based tests not covered by NHI.

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Acknowledgements

This work was supported by the Japan Agency for Medical Research and Development (AMED) Grant No. 18kk0305005h0002. The authors would like to thank Professor Eiji Nanba and grant members, especially Dr. Naoki Harada, for their excellent advice. The authors would also like to thank all of the facilities and laboratories that cooperated with this research for their thorough answers and efforts. Finally, the authors would like to thank Seisinweb Co., Ltd. (Matsumoto, Japan) for tabulating the results of the questionnaire.

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Authors and Affiliations

  1. Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, 173-8610, Japan

    Tomohiro Nakayama

  2. National Center of Neurology and Psychiatry, Medical Genome Center, Tokyo, 187-8551, Japan

    Tohru Masui

Authors
  1. Tomohiro Nakayama
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  2. Tohru Masui
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Contributions

TN and TM designed research, TN sent the questionnaire to the facilities and laboratories. TN and TM analyzed the results, and wrote the manuscript. TN led and oversaw the project.

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Correspondence to Tomohiro Nakayama.

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Nakayama, T., Masui, T. Precision management of gene-based tests not covered by the National Health Insurance system in Japan: a questionnaire-based study. J Hum Genet 67, 311–321 (2022). https://doi.org/10.1038/s10038-021-00999-7

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