Goals and Practices for Next Generation Prenatal Testing

 描述(申请人提供)：产前检测在两个重要方面得到发展：第一，基因组医学的进步意味着通过侵入性方法(如羊膜穿刺术)获得的胎儿DNA样本可以通过微阵列分析或全基因组测序进行分析，从而揭示出关于胎儿基因构成的更多信息，这比以前可能的情况要多得多；第二，引入了新的非侵入性产前检测，分离出在孕妇血液中循环的胎儿DNA片段，使得在怀孕期间进行安全、高精度的基因检测成为可能。目前，新的非侵入性测试可以获得的遗传特征范围很小。但随着技术的发展，它将迅速扩大，有一天它可能很快扩展到全基因组分析，允许检测所有范围的特征，包括那些与疾病风险增加、成人发病情况和非疾病特征相关的特征。这两个变化标志着下一代产前检测的开始，它有可能极大地改变每年仅在美国就有400万名分娩的女性的体验和护理。因此，这些非凡的技术发展提出了紧迫的伦理问题，这一项目将解决这一问题。首先，应该测试哪些性状，以及测试应该如何进行？其次，应该改变哪些政策以支持下一代产前检测的合乎道德的使用，以及这些政策应该以什么方式改变？第三，需要哪些未来的实证研究来检验这个项目提出的伦理建议在实践中是如何发挥作用的？为了解决这些问题，黑斯廷斯中心从对明智和有效使用下一代产前检查至关重要的广泛部门招聘了专家和代表，但他们尚未汇集在一起。重要的是，主要相关临床学会的领导人已经同意参与，因为他们意识到这个项目的伦理分析和建议将有益地为他们组织未来的临床指南提供参考。工作组还包括对第一代和第二代产前检测进行实证研究的成员，以及代表患者的成员。与这个工作组一起，首席调查人员将为临床医生、研究人员、政策制定者、舆论领袖和公众提供分析和建议。这项分析和建议的草稿将提交给孕妇和孕妇伴侣的四个重点小组，以征求他们的反馈。最后的分析和建议将通过学术出版物、会议报告、公开会议和项目网站分发给相关利益攸关方。

 DESCRIPTION (provided by applicant): Prenatal testing is evolving in two important ways: first, advances in genomic medicine mean that samples of fetal DNA obtained with invasive methods (such as amniocentesis) can be analyzed using microarray analysis or whole genome sequencing, revealing far more information about the fetus's genetic make-up than was previously possible; and second, new, non-invasive prenatal tests have been introduced that isolate fragments of fetal DNA circulating in a pregnant woman's blood, making possible safe, highly accurate genetic testing much earlier in pregnancy than was previously possible. Currently the range of genetic traits that can be picked up by the new non-invasive tests is small. But it is set to expand rapidly as the technology develops, and it may one day soon extend to whole genome analysis allowing detection of the full range of traits, including those associated with increases in risk for disease, adult-onset conditions, and non-disease traits. These two changes mark the beginning of the next-generation of prenatal testing, which has the potential to dramatically alter the experience and care of the 4 million women who give birth in the United States alone each year. Thereby, these remarkable technological developments raise pressing ethical, which this project will address. First, which traits should be tested for, nd how ought testing be conducted? Second, which policies should be altered to support the ethical use of next-generation prenatal tests, and in what ways should these policies be changed? And third, what future empirical research is needed to examine how the ethics recommendations made by this project play out in practice? To address these questions, The Hastings Center has recruited experts and representatives from a wide range of sectors critical to the wise and effective use of next- generation prenatal tests, but who have not yet been brought together. Importantly, leaders from the major relevant clinical societies have agreed to participate because they realize that this project's ethical analysis and recommendations will usefully inform their organizations' future clinical guidelines. The Work Group also includes members conducting empirical research on first and second-generation prenatal testing, and members representing patients. Together, with this Work Group, the Lead Investigators will produce analysis and recommendations for clinicians, researchers, policy makers, opinion leaders and the public. A draft of this analysis and recommendations will be presented to four focus groups of pregnant women and the partners of pregnant women for their feedback. The final analysis and recommendation will be disseminated to relevant stakeholders via scholarly publications, conference presentations, a public meeting, and a project website.