Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands.
Account Res. 2011 May;18(3):148-62. doi: 10.1080/08989621.2011.575033.
Genetic testing is traditionally preceded by counselling to discuss its advantages and disadvantages with individuals so they can make informed decisions. The new technique of whole genome or exome sequencing, which is currently only used in research settings, can identify many gene mutations, including substantial numbers of mutations with unknown pathological effect; it may, therefore, threaten this balanced approach if it is used in a clinical setting. We discuss the ethical challenges of several approaches to pre- and postnatal DNA testing, individual privacy versus the interests of families and of scientists, and the clinician's duty to re-contact if new information or options become available.
遗传检测传统上需要先进行咨询，与个体讨论其优缺点，以便他们能够做出明智的决策。目前仅在研究环境中使用的全基因组或外显子组测序新技术可以识别许多基因突变，包括大量具有未知病理效应的突变；因此，如果在临床环境中使用，它可能会威胁到这种平衡方法。我们讨论了几种产前和产后 DNA 检测方法的伦理挑战，个人隐私与家庭和科学家利益之间的关系，以及临床医生在有新信息或选择时重新联系的责任。
