Department of Obstetrics and Gynecology and the Division of Maternal Fetal Medicine, Women and Infants Hospital, Brown University, Providence, Rhode Island.
Obstet Gynecol. 2021 Jun 1;137(6):1074-1079. doi: 10.1097/AOG.0000000000004387.
Modern prenatal genetic screening techniques such as cell-free fetal DNA and expanded carrier screening genotype substantial amounts of maternal and fetoplacental DNA. Although DNA can be deidentified by stripping protected health information from genetic data, anonymized DNA can be reidentified using genetic databases, raising long-term genetic privacy concerns for both mother and fetus. In this commentary, we explore the evolution of prenatal genetic screening and how modern screening techniques may pose unanticipated privacy risks. We highlight knowledge gaps and outline steps to improve patient awareness of and control over their genetic privacy, including specific recommendations for laboratories and prenatal care practitioners who offer screening. We also encourage our colleagues who provide prenatal care to be well informed about the privacy implications of the genetic tests we order and to be vocal advocates for our patients' genetic privacy, both with the laboratories that perform these tests and in the public sphere.
现代产前基因筛查技术,如游离胎儿 DNA 和扩展携带者筛查基因分型,会检测大量的母体和胎胎盘 DNA。虽然 DNA 可以通过从基因数据中去除受保护的健康信息来实现去识别,但匿名化的 DNA 可以使用基因数据库重新识别,这给母亲和胎儿的长期基因隐私带来了担忧。在这篇评论中,我们探讨了产前基因筛查的演变,以及现代筛查技术可能带来的意想不到的隐私风险。我们强调了知识空白,并概述了提高患者对其基因隐私的认识和控制的步骤,包括为提供筛查的实验室和产前护理从业者提供的具体建议。我们还鼓励为患者提供产前护理的同事,要充分了解我们所开基因检测的隐私影响,并在为患者的基因隐私发声方面,既要与进行这些检测的实验室合作,也要在公众领域发声。