Ensuring Patients' Informed Access to Noninvasive Prenatal Testing

确保患者知情地获得无创产前检测

• 批准号: 9751355
• 负责人: Ruth Farrell
• 金额: $ 62.18万
• 依托单位: CLEVELAND CLINIC LERNER COM-CWRU
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-14 至 2021-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9751355
• 关键词: Aneuploidy; Attitude; Clinical; Communication; Communication Tools; Complex; Conflict (Psychology); Consent; Counseling; Data; Decision Aid; Decision Making; Development; Diagnostic tests; Discipline of obstetrics; Down Syndrome; Education; Ensure; Ethics; Face; Fetal Development; Foundations; Genetic Diseases; Genetic Screening; Genetic screening method; Genets; Goals; Individual; Informed Consent; Intervention; Interview; Knowledge; Maternal-fetal medicine; Measurement; Measures; Medicine; Outcome; Parents; Patient Education; Patients; Perception; Phenotype; Play; Ploidies; Population; Population Heterogeneity; Pregnant Women; Prenatal care; Process; Professional counselor; Provider; Public Health; Reporting; Role; Safety; Science of genetics; Sensitivity and Specificity; Series; Severities; Sex Chromosomes; Specialist; Structure; Surveys; Technology; Termination of pregnancy; Testing; Time; Translation Process; Translations; Woman; Work; bench to bedside; clinical practice; clinically relevant; design; disability; education resources; empowered; evidence base; fetal; follow-up; genetic counselor; genetic risk assessment; genetic technology; health care availability; health knowledge; health literacy; high risk; improved; innovation; microdeletion; neonatal outcome; next generation sequencing; patient oriented; patient population; personalized medicine; point of care; preference; prenatal; prenatal testing; rural setting; sex; shared decision making; skills; support tools; tool; treatment as usual; urban setting

PROJECT ABSTRACT Noninvasive prenatal genetic testing (NIPT) is revolutionizing the practice of obstetrics. However, the technol- ogy is expanding rapidly and in a way that has outpaced the rate at which evidence-based strategies for its in- tegration can be developed and implemented. Initially, NIPT was used as a screen for a limited number of an- euploidies and genetic conditions. Now, it is possible to confer information about numerous other fetal genetic conditions with variable phenotypic severity never before a part of prenatal screening as well as providing in- formation about markers that have undetermined significance. In addition, information gained from NIPT may have unexpected consequences by identifying maternal or paternal factors that may be unwanted or unex- pected. Thus, the decision-making process for NIPT is uniquely complex. An urgent clinical problem has emerged: there is a lack of evidence-based tools to guide OB providers in effective and patient-centered edu- cation and decision support for NIPT. The magnitude of this problem becomes evident when considering that over four million women receive prenatal care in the U.S. annually and there are not enough prenatal genet- ic counselors or maternal-fetal medicine specialists to meet this demand, particularly in rural and urban set- tings that already face poorer obstetric outcomes due to barriers in access prenatal care. The primary goal of this study is to ensure that all patients have informed access to NIPT by means of an effective communica- tion tool reflecting the perspectives of patients, partners, and OB providers designed to support patients’ informed decision-making about its use. Our central hypothesis is that, by focusing on the dynamic interac- tion between the patient and provider, the use of an evidence-based communication tool will result in a shared decision-making process that, in turn, will increase patients’ ability to make an informed choice about NIPT and decrease patients’ decisional conflict. We will examine this hypothesis using an evidence- based communication tool and a series of validated quantitative measures combined with in-depth interviews with key stakeholders in the NIPT translation process. This project is innovative because it will provide a new framework for the informed decision-making process that focuses on the patient and provider as dyads in the informed decision-making process. This work is significant because, once this point-of-care intervention is available, it will help expectant parents have informed access to advances in prenatal genetic tests that use next generation sequencing technologies. These results are expected to have an important positive impact on public health, as informed access to advances in genetic technologies is not only foundational to the ethical practice of medicine but also a key component of quality, access, and outcomes of personalized medicine. 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.

项目摘要 无创产前基因检测(NIPT)正在给产科实践带来革命性的变化。然而，Technol- OGY正在迅速扩张，其速度已经超过了基于证据的战略在其内部- 集成是可以开发和实现的。最初，NIPT被用作有限数量的屏幕- 整倍体和遗传条件。现在，有可能提供关于许多其他胎儿基因的信息 具有不同表型严重程度的疾病在产前筛查之前从未进行过，并提供了 关于具有未知意义的标记的形成。此外，从NIPT获得的信息可以 有意想不到的后果，通过识别母亲或父亲的因素，可能是不想要的或不必要的- 预期中的。因此，NIPT的决策过程是独特的复杂的。一个紧迫的临床问题 出现：缺乏基于证据的工具来指导OB提供商进行有效和以患者为中心的教育 为NIPT提供阳离子和决策支持。考虑到这一点，这个问题的严重性就变得显而易见了 在美国，每年有400多万妇女接受产前护理，而产前基因不足-- IC咨询师或母婴医学专家来满足这一需求，特别是在农村和城市- 由于产前护理方面的障碍，已经面临较差产科结局的婴儿。的主要目标是 这项研究是为了确保所有患者都能通过有效的沟通获得NIPT- 一种反映患者、合作伙伴和OB提供商观点的工具，旨在支持患者的 关于其使用的知情决策。我们的中心假设是，通过关注动态的交互作用- 在患者和提供者之间的关系中，使用循证沟通工具将导致 共享的决策过程，反过来将提高患者做出知情选择的能力 了解NIPT，减少患者的决策冲突。我们将使用一个证据来检验这一假设-- 基于沟通工具和一系列经过验证的量化措施，并结合深度访谈 在NIPT翻译过程中与关键利益攸关方合作。该项目具有创新性，因为它将提供一种新的 以患者和提供者为中心的明智决策过程的框架 知情的决策过程。这项工作意义重大，因为一旦这种护理点干预 它将帮助准父母了解产前基因测试的进展情况，这些基因测试使用 下一代测序技术。这些结果预计将对以下方面产生重要的积极影响 公共卫生，因为知情地获得基因技术的进步不仅是伦理上的基础 医疗实践也是个性化医疗质量、途径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的能力 做出明智的选择，反映他们作为个人和父母的需求和偏好。