Kihlbom Ulrik
a Center for Research Ethics and Bioethics , Uppsala University , Uppsala , Sweden.
Ups J Med Sci. 2016 Nov;121(4):295-298. doi: 10.1080/03009734.2016.1189470. Epub 2016 Jul 8.
Population-based preconception genetic carrier screening programmes (PCS) with expanded panels are currently being developed in the Netherlands. This form of genetic screening for recessive traits differs from other forms of genetic testing and screening in that it is offered to persons not known to have an increased risk of being carriers of genetic traits for severe recessive diseases and in that they include tests for a large number of traits, potentially several hundred. This raises several ethical issues around justice, consequences, and autonomy. It will be argued that most of these ethical problems call for cautious reflection when setting up PCS and similar programmes within preconception care. It is moreover argued that it is ethically problematic to have an official aim and failing to mention possibly legitimate public aims that actually drive the development of PCS.
荷兰目前正在开展基于人群的孕前遗传携带者筛查项目（PCS），其检测范围有所扩大。这种针对隐性性状的遗传筛查形式与其他遗传检测和筛查形式不同，它面向那些并非已知携带严重隐性疾病遗传性状风险增加的人群，且检测大量性状，可能多达数百种。这引发了围绕公平、后果和自主性的若干伦理问题。有人认为，在孕前保健中设立PCS及类似项目时，大多数此类伦理问题都需要谨慎思考。此外，有人认为，设定一个官方目标却不提及实际推动PCS发展的可能合理的公共目标在伦理上存在问题。
