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(并非)迷失在翻译中:在日本背景下考量GA4GH数据集多样性政策

(Not So) Lost in Translation: Considering the GA4GH Diversity in Datasets Policy in the Japanese Context.

作者信息

Sato Momoko, Muto Kaori, Momozawa Yukihide, Joly Yann

机构信息

Graduate School of Interdisciplinary Information Studies, The University of Tokyo, Tokyo, Japan.

Center for Integrative Medical Sciences, Laboratory for Biomedical Ethics and Co-design, RIKEN, Yokohama, Japan.

出版信息

Asian Bioeth Rev. 2024 Aug 16;17(1):59-72. doi: 10.1007/s41649-024-00305-5. eCollection 2025 Jan.

Abstract

The genomics community has long acknowledged the lack of diversity in datasets used for research, prompting various stakeholders to confront this issue. In response, the Global Alliance for Genomics and Health (GA4GH) formulated a policy framework that recognizes the multiplicity of perspectives on diversity and proposed a systemic approach for more optimal data diversity. Given the importance of the research context, assessing this policy's applicability within countries where diversity is less discussed is important. This study investigated the feasibility of implementing the GA4GH policy in Japan, a nation with a smaller genetic diversity than many Western countries. As the proportion of East Asian genomic research is limited internationally, focusing on the Japanese genome contributes to enhancing diversity. Meanwhile, labelling findings as "Japanese" can inadvertently reinforce perceptions of homogeneity and overlook ethnic minorities. Regions and socioeconomic status are also recognized as substantial factors of diversity within academia, yet concerns persist among the public regarding the heritability of stigmatized conditions. Social inclusion of sexual minorities has begun in Japan, but research surveys generally still use binary sex and gender categories, which underscores the need for additional variables. This study found that both academia and the public need to confront the overemphasis on homogeneity within Japanese society and hesitancy in addressing genetic factors. By doing so, more inclusive and diverse datasets can advance the field both ethically and scientifically. Perhaps the most important impact of the GA4GH policy will be to draw greater attention to the complex diversity challenges ahead in Japan.

摘要

长期以来,基因组学界一直承认用于研究的数据集缺乏多样性,这促使各利益相关方直面这一问题。作为回应,全球基因组与健康联盟(GA4GH)制定了一个政策框架,该框架认识到关于多样性存在多种观点,并提出了一种实现更优数据多样性的系统方法。鉴于研究背景的重要性,评估该政策在较少讨论多样性的国家的适用性很重要。本研究调查了在日本实施GA4GH政策的可行性,日本的遗传多样性比许多西方国家要少。由于东亚基因组研究在国际上的占比有限,关注日本基因组有助于增强多样性。与此同时,将研究结果标记为“日本的”可能会无意中强化同质性观念,并忽视少数族裔。地区和社会经济地位也被认为是学术界多样性的重要因素,但公众对污名化疾病的遗传性仍存在担忧。日本已开始将性少数群体纳入社会,但研究调查通常仍使用二元的性别分类,这凸显了增加变量的必要性。本研究发现,学术界和公众都需要面对日本社会对同质性的过度强调以及在解决遗传因素方面的犹豫态度。通过这样做,更具包容性和多样性的数据集可以在伦理和科学两方面推动该领域的发展。GA4GH政策最重要的影响可能是让人们更加关注日本未来面临的复杂多样性挑战。

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