McConkie-Rosell Allyn, Spiridigliozzi Gail A
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
J Genet Couns. 2004 Feb;13(1):9-29. doi: 10.1023/b:jogc.0000013379.90587.ef.
Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrated. Because of the difficulty in determining a psychosocial benefit, the discussion about genetic testing of minors ultimately tends to focus on who has the right to make the decision and whose right to autonomy is jeopardized, the parent's or the child's, when there is no identified medical benefit. Historically, a western bioethics paradigm, Principlism, has been used to guide genetic counseling sessions and genetic-testing guidelines for minors. This bioethics paradigm is guided by the principles: respect for autonomy, beneficence, nonmaleficence, and justice. Genetic testing in children, when viewed through a traditional bioethics filter is limited by its focus on the individual because children are not only individuals, they are also integral parts of a larger social context, that of their family. Because this bioethics paradigm places a strong emphasis on individual autonomy, the family's beliefs and values and the parents' concern for their children may be overshadowed by the medical community's attempt to preserve the child's "right" to an autonomous decision about genetic testing. The purpose of this paper is to first discuss the circumstances in which genetic testing of minors occurs and then present a theoretical and ethics-based conceptual framework that may be useful in the development of genetic counseling interventions.
对未成年儿童进行基因检测会带来复杂的伦理和社会问题。当前指南指出，只有在能够证明对儿童有明确的医学或心理社会效益的情况下，才建议对儿童进行基因检测。由于难以确定心理社会效益，关于未成年人基因检测的讨论最终往往集中在谁有权做出决定，以及在没有明确的医学益处时，父母或孩子的自主权谁的会受到损害。从历史上看，西方生物伦理范式——原则主义，一直被用于指导未成年人的遗传咨询会议和基因检测指南。这种生物伦理范式以尊重自主权、行善、不伤害和公正等原则为指导。从传统生物伦理的角度来看，儿童基因检测因其对个体的关注而受到限制，因为儿童不仅是个体，他们也是更大社会背景（即家庭）中不可或缺的一部分。由于这种生物伦理范式非常强调个人自主权，医学界试图维护儿童自主决定基因检测的“权利”，可能会使家庭的信仰和价值观以及父母对孩子的关心被忽视。本文的目的是首先讨论对未成年人进行基因检测的情况，然后提出一个基于理论和伦理的概念框架，这可能有助于制定遗传咨询干预措施。
