• 中国科学学与科技政策研究会
  • 中国科学院科技政策与管理科学研究所
  • 清华大学科学技术与社会研究中心
ISSN 1003-2053 CN 11-1805/G3

科学学研究 ›› 2022, Vol. 40 ›› Issue (6): 975-982.

• 科学学理论与方法 • 上一篇    下一篇

生物大数据下人体基因信息的保护境遇及应对———以生物样本库为切入点

徐美轩   

  1. 华中科技大学法学院
  • 收稿日期:2021-04-29 修回日期:2021-07-08 出版日期:2022-06-15 发布日期:2022-06-15
  • 通讯作者: 徐美轩

The protection situation and countermeasures of human genetic information under big biological data—Taking Biobank as the entry point

  • Received:2021-04-29 Revised:2021-07-08 Online:2022-06-15 Published:2022-06-15

摘要: 随着生命科学与信息科学不断地交叠发展,推动了生物大数据时代的到来。生物大数据正在深刻影响着生物医学,俨然已成为增速较快的大数据类型之一,并助推“精准医学”的普及和应用。但是,生物信息数据固然无法脱离生物样本库这一基础性设施而独立存在。并且存储人体基因信息的生物样本库却极具特殊性,源于人体基因信息揭示出了一个人最为敏感、最深层次的个人信息,与个人的生命特征息息相关。因而如果不能对人体基因信息进行周严的保护,必然会引发人的主体性地位的撼动。所以,须从个体、群体、国家三重视角审视当下人体基因信息的不合理披露所带来的风险与危害,并对此采取有效的应对方案,以实现生物样本库的良性运转,增进我国民众的福祉。

Abstract: The overlapping development of life sciences and information sciences has promoted the arrival of biological big data era. As one of the fast-growing big data types, biological big data has been profoundly affecting biomedicine and promoting the popularization and application of "precision medicine". However, biological information data cannot exist independently of the basic facility of Biobank. Nowadays, it has been transitioned from the development stage of the traditional Biobank to the development stage of the modern Biobank, and has been changed from focusing on "biological samples" to focusing on "biological data". As an important guarantee for the advancement of medical technology and the prevention and control of public diseases, the Biobank will surely be further deepened and expanded. At this time, the protection of human genetic information will become more prominent. Moreover, the Biobank that stores human genetic information is very special, because human genetic information reveals the most sensitive and deepest personal information of a person, which is closely related to the life characteristics of the individual. On the other hand, the Biobank storing human genetic information has brought huge ethical dilemmas to human society. For example, it is obviously irresponsible to carry out large-scale genetic information collection activities without identifying the social, legal, and ethical issues involved. Especially in the current background of biological big data, the acquisition of individual biological specimens and DNA will to a certain extent mean the leakage and disclosure of their sensitive information. Therefore, it is necessary and obliged to take precise and effective measures to protect the safety of the genetic information of subjects during the construction of the biological sample library, and to avoid potential genetic discrimination or other adverse events. In other words, the law requires multiple considerations and special protection of human genetic information. Human genetic information presents the typical "dividual" characteristics. If the human genetic information cannot be strictly protected, it will trigger genetic discrimination in the social field, ethnic groups will fall into the stigmatization quagmire, and a huge "gene gap" will be formed between countries. Besides, if the human genetic information cannot be strictly protected, it will inevitably cause a shake of the person's subjective status. Therefore, the article introduces the theoretical concept of "dividual" to reveal the essential characteristics of human genetic information; on this basis, further explores the theoretical significance of protecting human genetic information, and examine the risks and hazards caused by the unreasonable disclosure of human genetic information from the perspectives of individuals, groups and countries. Finally, an effective response plan was proposed, including improving relevant governance mechanisms, continuously accelerating the improvement of relevant legislation, expressly prohibiting illegal genetic testing, fully guaranteeing the authenticity of informed consent, accurately defining the scope of subjects, and constructing a reasonable withdrawal mechanism. Through these measures, the goal of the benign operation of the Biobank and enhancement of the welfare of our people will be achieved. In summary, based on the irreversibility of the consequences of human genetic information infringement, how to construct a protection system that can not only promote the rapid development of biomedical research, but also effectively protect the rights of citizens is still a problem that we need to continue to think about.