Shin Koike (LLM expected 2025), student fellow, Center for Law and the Biosciences

The Landscape of Genome Medicine in Japan

Recent advancements in genome technology have made it possible to analyze an individual’s DNA and identify genetic variations that may impact their health. Built on genomic analysis, genome medicine enables the diagnosis and treatment of diseases tailored to a person’s genetic makeup and medical condition. Notably, genomic diagnostics for cancer and rare diseases, as well as treatment decision-making based on genetic information, are steadily being integrated into medical practice.[1] Moreover, a major shift is now underway in cancer and rare diseases genome medicine, where gene panel testing is transitioning into an era of whole-genome analysis.[2]

However, as genomic medicine continues to advance, so too do concerns that must be addressed through public discourse. The use of genomic technology raises critical legal, bioethical, and societal concerns, necessitating a multifaceted approach to safeguard individual rights and interests.[3]

Against this backdrop, on June 9, 2023, the National Diet, Japan’s legislative body, enacted the Act on the Comprehensive and Systematic Promotion of Measures to Ensure that Citizens Can Receive High-Quality and Appropriate Genomic Medicine with Peace of Mind (Act No. 57 of June 16, 2023)—commonly referred to as the Genome Medicine Promotion Act. This legislation aims to balance the promotion of genomic medicine with the protection of individual rights, marking the dawn of a new era in genomic medicine.

In this blog post, I will outline the fundamental principles of the Genome Medicine Promotion Act and highlight one major issue it aims to address: unjust discrimination based on genomic information. While the Act does not provide specific enforcement mechanisms, its objective—to prevent genetic discrimination—aligns with legislation from other jurisdictions, such as the U.S. Genetic Information Nondiscrimination Act (GINA).[4]

Fundamental Principles of the Genome Medicine Promotion Act

The Genome Medicine Promotion Act establishes three fundamental principles: advancing genomic medicine, ensuring bioethics, and preventing discrimination (Article 3). To achieve these objectives, the Act sets forth thirteen fundamental policies that cover topics including the promotion of genomic medicine R&D, the implementation of guidelines for doctors and academia to protect bioethics, and measures to prevent unjust discrimination based on genomic information. Notably, scientific advancements alone are insufficient to integrate genomic medicine into medical practice. Without addressing the legal, ethical, and societal concerns surrounding its implementation, genome medicine will face significant barriers. Thus, addressing these issues is not only essential for safeguarding individual rights but also a critical factor in ensuring the successful advancement and adoption of genomic medicine.

Unjust Discrimination Based on Genomic Information

Given its significant impact, while the Genome Medicine Promotion Act covers a wide range of topics and issues, this blog will focus specifically on measures to prevent unjust discrimination related to genomic medicine. To address this issue, the Genome Medicine Promotion Act provides as follows:

Article 15 (Ensuring Appropriate Measures to Discrimination, etc.)

“In promoting the research, development, and provision of genome medicine, the government shall take necessary measures to ensure appropriate responses to unjust discrimination based on an individual’s innate and inheritable genomic information, as well as to other issues that may arise from the expanded use of such information.”[5]

To assess necessary measures, three key factors should be considered: discrimination in the labor and insurance sectors, discrimination in private relationships, and the challenges of detecting such discrimination.

Discrimination in the Labor and Insurance Sectors

Unjust discrimination based on genomic information is most concerning in the labor and insurance sectors. Since the U.S. enacted GINA, many countries have introduced laws and regulations to prohibit such discrimination and ensure fair treatment in these areas.

In line with these international regulatory trends, on August 20, 2024, the Ministry of Health, Labour and Welfare (“MHLW”) issued the Q&A on Ensuring Appropriate Measures Against Unjust Discrimination, etc., Based on Genomic Information (Labor Sector). This Q&A provides guidelines to prevent discriminatory practices in employment and promote fairness in the workplace. Although this Q&A does not introduce new regulations, it clarifies these principles through the interpretation and application of existing labor laws. Nevertheless, it is expected to play a significant role in preventing genomic-based discrimination in the labor sector. The key points of the Q&A are as follows:

• Hiring Practices: Employers are, in principle, prohibited from requesting job applicants to submit genomic information during the hiring process.
• Data Collection Restrictions: Even after employment, employers cannot collect workers’ genomic information.
• Termination Protections: Dismissal based on genomic information is generally regarded as an abuse of dismissal rights and is therefore invalid.
• Fair Workplace Treatment: Unfavorable job transfers, demotions, or discriminatory treatment in promotions based on genomic information are also considered an abuse of rights and are thus invalid.
• Access to Remedies: Individuals facing unjust treatment may seek consultation at local labor bureaus and other relevant authorities.

Furthermore, the government is currently preparing a Q&A for the insurance sector, which is expected to be released soon.

Discrimination in Private Relationships

Discrimination based on genetic information can also occur in private relationships. For example, individuals may face rejection in marriage due to their genetic information, or they may experience social exclusion or stigma from neighbors. Unlike workplace or insurance-related discrimination, which can be addressed through legal frameworks, discrimination in private relationships is more complex as it is often rooted in personal biases and societal misconceptions.

Challenges in Detecting Discrimination

While unjust discrimination based on genomic information undoubtedly exists, detecting and analyzing such cases is challenging. One major obstacle is that reports of discrimination are often subjective, particularly in private relationships, where personal perceptions and social dynamics play a significant role.

Additionally, in the labor and insurance sectors, decisions affecting individuals—such as hiring, promotions, or policy approvals—may be influenced by legitimate and justifiable factors. This makes it difficult to determine whether genomic information was a decisive factor in potential discrimination cases.

The Government Basic Plan to Address Unjust Discrimination

The government is required to develop a Basic Plan for the promotion of genomic medicine. This Basic Plan outlines the core policies and specific measures to be implemented in a structured and coordinated manner. In the draft Basic Plan,[6] considering the typical types of discrimination and challenges mentioned above, the government emphasizes the need to implement the following measures to prevent discrimination based on genomic information:

• The government shall widely disseminate the content of the Q&A on Ensuring Appropriate Measures Against Unjust Discrimination, etc., Based on Genomic Information (Labor Sector), published on August 20, 2024, and the Q&A on Ensuring Appropriate Measures Against Unjust Discrimination, etc., Based on Genomic Information (Insurance Sector) as soon as it is available.
• The government shall collect and share cases related to unjust discrimination, etc., based on genomic information, while also formulating policies to address such discrimination. Additionally, the government shall implement measures to prevent such discrimination and ensure widespread awareness of these efforts.
• The government shall actively promote awareness of consultation services and relief systems available to individuals who have experienced unjust discrimination based on genomic information.

These initiatives would serve as a critical first step in establishing a framework to combat genomic discrimination.

Where Should the Government’s Priorities Lie?

As the government emphasizes, to develop effective policies and countermeasures, further research and data collection are essential. Systematic studies should aim to identify patterns of discrimination, assess their impact, and explore ways to mitigate them, ensuring that unjust discrimination based on genetic information is properly addressed.

However, detecting and analyzing discrimination cases remains a challenge and may take time. Moreover, discrimination may remain low until genomic medicine becomes more widely available. Given these complexities, the government should not wait for further studies before taking action. Instead, immediate efforts should prioritize public awareness and education by:

• Providing accurate information about genetic data to dispel misunderstandings and reduce stigma.
• Promoting educational initiatives to foster societal acceptance and prevent unjust treatment based on genetic predispositions.

By increasing public understanding of genomic information, the government can help create a more inclusive society where individuals are not judged or excluded based on their genetic traits.

Striking While the Iron Is Hot: Japan’s Pivotal Moment in Genomic Medicine

While legal, bioethical, and societal challenges remain at this stage, this moment presents a crucial opportunity to shape the future of genomic medicine in Japan. Beyond the issue of discrimination discussed above, it is essential to discuss pressing issues, including legal concerns surrounding genomic information and direct-to-consumer (DTC) genetic testing, bioethical challenges related to genome editing technologies, and societal considerations regarding genomic education. Now is the time for meaningful discussions and decisive action. As the saying goes, “Strike while the iron is hot”—a phrase that perfectly captures Japan’s current opportunity.

With the Genome Medicine Promotion Act setting the foundation, we can expect dynamic discussions, deeper analysis, and significant breakthroughs in the near future. Exciting developments to promote genomic medicine are just beginning.

Notes

[1] Mayumi Kamada and Yosuke Kawai, “An Overview of Genomic Medicine and Efforts in Japan,” JSBi Bioinformatics Review 2023 Volume 4 Issue 2 Pages 81-90, https://doi.org/10.11234/jsbibr.2023.2

[2] “Whole Genome Analysis Implementation Plan 2022” issued by the MHLW on September 30, 2022, https://www.mhlw.go.jp/content/10901000/001069218.pdf

[3] Shunsaku Takayanagi, “Ethical Issues and Future Prospects of Genomic Medicine,” Japanese Journal of Neurosurgery 2023 Volume 32 Issue 9 Pages 568-576, https://doi.org/10.7887/jcns.32.568

[4] Genetic Information Nondiscrimination Act of 2008, 42 U.S.C. §§ 2000ff–2000ff-11 (2018).

[5] This translation is an unofficial version by the author, as an official English translation was not yet available at the time of this blog’s posting.

[6] The draft Basic Plan published by the MHLW on February 27, 2025, https://www.mhlw.go.jp/content/10808000/001426250.pdf