The 'serious' factor in germline modification
The 'serious' factor in germline modification
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DOI：
10.1136/medethics-2019-105436
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发表时间：
2019-08-01
影响因子：
4.1
通讯作者：
Knoppers, Bartha Maria
中科院分区：
文献类型：
--
作者：
Kleiderman, Erika;Ravitsky, Vardit;Knoppers, Bartha Maria
目前辅助生殖技术的进步旨在促进未来儿童的健康和福祉。它们提供了选择具有最大健康潜力的胚胎的可能性（例如，植入前基因检测），并且有朝一日可能纠正导致胚胎中遗传性疾病的错误基因（例如，人类生殖系基因组修饰（HGGM））。围绕HGGM的大多数法律和政策声明都提到“严重”的概念，作为确定这些技术应针对哪些遗传疾病的核心标准。然而，这一概念仍然模糊不清，定义不清，使其应用具有挑战性，决策具有主观性和任意性。作为背景，我们开始简要介绍两个概念的方法“健康”和“疾病”：客观主义（即，基于生物学事实）和建构主义（即，基于人类价值观）。两者的基本挑战都是弄清楚社会和环境因素是否以及在多大程度上有助于界定什么是超出医学标准的“严重”疾病。然后，我们专注于人权框架（例如，科学权和最高可达到的健康权）如何整合客观主义和建构主义的概念，以便为更可操作的“认真”考虑提供指导。最后，可以说，人权框架由于其具有法律约束力的性质及其全球公认的规范和价值观，为讨论新兴技术或破坏性技术的伦理、法律的和社会影响提供了一个更加普遍的基础。
Current advances in assisted reproductive technologies aim to promote the health and well-being of future children. They offer the possibility to select embryos with the greatest potential of being born healthy (eg, preimplantation genetic testing) and may someday correct faulty genes responsible for heritable diseases in the embryo (eg, human germline genome modification (HGGM)). Most laws and policy statements surrounding HGGM refer to the notion of 'serious' as a core criterion in determining what genetic diseases should be targeted by these technologies. Yet, this notion remains vague and poorly defined, rendering its application challenging and decision making subjective and arbitrary. By way of background, we begin by briefly presenting two conceptual approaches to 'health' and 'disease': objectivism (ie, based on biological facts) and constructivism (ie, based on human values). The basic challenge under both is sorting out whether and to what extent social and environmental factors have a role in helping to define what qualifies as a 'serious' disease beyond the medical criteria. We then focus on how a human rights framework (eg, right to science and right to the highest attainable health) could integrate the concepts of objectivism and constructivism so as to provide guidance for a more actionable consideration of 'serious'. Ultimately, it could be argued that a human rights framework, by way of its legally binding nature and its globally accepted norms and values, provides a more universal foundation for discussions of the ethical, legal and social implications of emerging or disruptive technologies.