Preparing for Emerging Applications of Noninvasive Prenatal Testing

为无创产前检测的新兴应用做好准备

• 批准号: 8871291
• 负责人: Ruth Farrell
• 金额: $ 23.78万
• 依托单位: CLEVELAND CLINIC LERNER COM-CWRU
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-04-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8871291
• 关键词: Address; Aneuploidy; Blood specimen; Clinical; Collaborations; Complex; Counseling; Data; Decision Making; Discipline of obstetrics; Down Syndrome; Ensure; Ethical Issues; Ethics; Fetus; Genetic; Genetic screening method; Genome; Genomics; Goals; Health; Health Personnel; Health Professional; Hereditary Disease; Individual; Informed Consent; Knowledge; Laws; Medical; Medicine; Mendelian disorder; Methodology; Methods; Newborn Infant; Outcome; Parents; Patient Care; Patients; Pregnant Women; Prenatal care; Process; Public Health; Research; Resources; Risk; Safety; Science of genetics; Sex Chromosome Aberrations; Structure; Technology; Testing; Time; Trisomy; Work; base; bench to bedside; cell free fetal DNA; clinical practice; clinically relevant; empowered; evidence base; exome; exome sequencing; fetal; genetic information; genetic variant; genome sequencing; health care quality; innovation; meetings; microdeletion; multidisciplinary; next generation sequencing; offspring; patient oriented; preference; prenatal; prenatal testing; public health relevance; reproductive; screening; variant of unknown significance

 DESCRIPTION (provided by applicant): Noninvasive prenatal genetic testing, which utilizes cell-free fetal DNA and advances in sequencing technology, is revolutionizing the practice of obstetrics. While currently used as a screen for a limited number of aneuploidies and genetic conditions, noninvasive testing is anticipated to employ whole fetal exome and genome sequencing to identify not only monogenic disorders but also microduplications, microdeletions, and variants of uncertain clinical significance. This will give rise to a vast and complex body of information that expectant parents and healthcare providers must be prepared to interpret. Given the impact of fetal genetic information on reproductive choices, it is critical that effectiv informed consent practices are in place to ensure pregnant women and their partners make informed and value-reflective decisions about incorporating genomic technologies into their prenatal care. However, there is a critical lack of knowledge about how to structure an informed consent process that effectively meets the needs and preferences of expectant parents and is responsive to the challenges posed by noninvasive prenatal genomic testing and the clinical practice of medicine. The primary goal of this study is to ensure patient-centered counseling and effective informed consent practices are in place for noninvasive fetal genomic testing. Our central hypothesis is that the current absence of data concerning the informed consent process for such tests will not only have serious clinical and ethical implications for the delivery of prenatal care but also interfere with 1) patients' informed access to emerging applications noninvasive testing and 2) the translational process of other new prenatal technologies from the bench to the bedside. This project has two aims: 1) to describe the components of an effective informed consent process for noninvasive fetal genomic testing from the perspectives of pregnant women and partners and 2) to determine obstetric and genetic healthcare providers' perspectives regarding approaches and barriers to an effective informed consent process for noninvasive fetal genomic testing. We will conduct this work in collaboration with a multidisciplinary team of leading experts in the field of obstetrics, genetics, ethics, law, and medical decision-making and use a combination of qualitative and quantitative methods. This project is innovative because it will provide a new framework for the informed consent process and bring in the perspectives of partners in decisions about the use of noninvasive fetal testing. This work is significant because it is the first step in a line of research expected to develop and implement clinically relevant strategies to support expectant parents' informed consent about the use of next generation sequencing technologies. These results are expected to have an important positive impact on public health, as informed consent is not only foundational to the ethical practice of medicine but also a key component of healthcare quality, access, and outcomes. We anticipate that this study's findings will ultimately contribute to empowering pregnant women and their partners to make informed choices that reflect their needs and preferences as individuals and parents.

 描述(由申请人提供)：非侵入性产前基因检测，利用无细胞胎儿DNA和测序技术的进步，正在彻底改变产科的实践。虽然目前用于筛查有限数量的非整倍体和遗传条件，但非侵入性检测有望利用整个胎儿外显子组和基因组测序不仅识别单基因疾病，而且识别微复制、微缺失和临床意义不确定的变异。这将产生大量复杂的信息，准父母和医疗保健提供者必须准备好解读这些信息。鉴于胎儿遗传信息对生殖选择的影响，至关重要的是制定有效的知情同意做法，以确保孕妇及其伴侣就将基因组技术纳入产前护理作出知情和反映价值的决定。然而，对于如何构建一种知情同意程序，以有效满足准父母的需求和偏好，并应对非侵入性产前基因组检测和临床医学实践带来的挑战，仍然严重缺乏知识。这项研究的主要目标是确保以患者为中心的咨询和有效的知情同意做法在非侵入性胎儿基因组检测中到位。我们的中心假设是，目前缺乏关于此类检测的知情同意过程的数据，不仅会对产前护理的提供产生严重的临床和伦理影响，而且还会干扰1)患者在知情的情况下获得新兴应用的非侵入性检测，2)其他新的产前技术从工作台到床边的转化过程。该项目有两个目标：1)从孕妇和伴侣的角度描述有效的非侵入性胎儿基因组检测知情同意程序的组成部分；2)确定产科和遗传保健提供者对有效的非侵入性胎儿基因组检测知情同意程序的方法和障碍的看法。我们将与产科、遗传学、伦理学、法律和医疗决策领域的领先专家组成的多学科团队合作开展这项工作，并使用定性和定量相结合的方法。该项目具有创新性，因为它将为知情同意程序提供一个新的框架，并在使用非侵入性胎儿检测的决策中引入合作伙伴的观点。这项工作意义重大，因为它是一系列研究的第一步，预计将开发和 实施临床相关战略，支持准父母对使用下一代测序技术的知情同意。这些结果预计将对公共卫生产生重要的积极影响，因为知情同意不仅是医学道德实践的基础，也是医疗质量、获取机会和结果的关键组成部分。我们预计，这项研究的结果最终将有助于增强孕妇及其伴侣做出明智选择的能力，这些选择反映了她们作为个人和父母的需求和偏好。