"I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.
"I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.
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DOI：
10.1016/j.jemep.2016.07.006
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发表时间：
2016-07-01
期刊：
影响因子：
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通讯作者：
Allyse, M
中科院分区：
文献类型：
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作者：
Gammon, B L;Kraft, S A;Allyse, M
背景：最近将基于无细胞DNA的非侵入性产前筛查(cfDNA筛查)引入临床实践，有望使产前检测发生革命性变化。CFDNA筛查胎儿非整倍体在某些情况下表现出比常规血清筛查更高的敏感性和特异性，并且可以在怀孕早期进行。然而，目前尚不清楚临床实践是否以及如何将这种新型检测吸收到他们的知情同意和咨询过程中。自2011年将cfDNA筛查引入实践以来，吸纳量和范围大幅增加。产前护理提供者面临着压力，要求他们及时更新快速变化的cfDNA筛查面板，管理不断增长的患者需求，并跟上不断变化的检测成本，同时试图以负责任和合乎道德的方式使用这项技术。虽然有关cfDNA筛查的临床文献表明，cfDNA筛查对特定的患者人群有好处，但它也发现了提供者和患者对该技术的力量存在重大误解。与现有的产前检测技术相比，cfDNA筛查的独特功能对知情决策和遗传咨询具有影响，必须解决这些问题，以确保伦理实践。目的：本研究探索了处于美国非侵入性基因筛查前沿的产前护理提供者的经验，以了解这种检测如何改变产前医学的实践。我们的目的是了解提供和提供这种检测的经验与现有的产前检测方法有何不同。这些差异可能需要改变患者教育和同意程序，以维持道德实践。方法：我们使用在线美国妇产科医生大会医生目录来确定美国每个州和哥伦比亚特区的五个产前护理提供者的系统样本。从每个州的最低邮政编码开始，我们从目录中每五个名字中抽取一个，不包括那些已经退休的提供者，他们目前没有在他们所在的州执业，或者没有参与产前专科。在重复这一步骤两次并总共发出461份邀请后，37家供应商表示有兴趣参与，我们完成了对21家供应商(4.6%)的电话采访。我们开发了一份半结构化的面试指南，包括关于提供者使用cfDNA筛查和对cfDNA筛查的态度的问题。一名面谈人通过电话进行所有面谈并对其进行录音，每次面谈持续约30分钟。结果：产前护理人员对cfDNA筛查的优势有不同的看法，并对cfDNA筛查在实践中的实施表示了一系列的担忧。虽然供应商同意cfDNA的几个优点，包括更高的准确性，更早的结果返回，以及减少并发症的风险，但许多人表示担心没有足够的时间就产前筛查和检测方案对患者进行充分的咨询和教育。供应商也同意对cfDNA筛查的需求增加，并表示希望从专业协会、实验室和出版物获得更多信息。提供者对cfDNA筛查的医疗影响和未来存在分歧。一些供应商预计，cfDNA筛查在广泛实施时将降低医疗成本，并对扩大cfDNA筛查小组表示乐观。其他人担心随着时间的推移，cfDNA筛查会增加成本，并质疑扩展到包括微缺失的做法是否符合伦理。结论：本研究提供者的观点和经验有助于深入了解cfDNA筛查的临床益处、产前实践的负担以及cfDNA筛查在临床实践中的潜在未来。鉴于cfDNA筛查的范围和接受度可能会继续增加，有必要考虑这些变化将如何影响一线产前护理提供者，进而影响患者。提供者对额外指导和数据的要求，以及他们对可用于解释筛查和检测选项的时间不足的担忧，表明患者护理方面存在重大潜在问题。重要的是要确保cfDNA筛查的临床整合在进一步扩大之前得到负责任和合乎道德的管理，从而加剧先前存在的问题。随着产前筛查的发展，知情同意和妇女做出决定的可用资源也应该发展。该领域必须采取措施，最大限度地发挥cfDNA筛查的优势，并负责任地管理其伦理问题。
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes. Since the introduction of cfDNA screening into practice in 2011, the uptake and scope have increased dramatically. Prenatal care providers are under pressure to stay up to date with rapidly changing cfDNA screening panels, manage increasing patient demands, and keep up with changing test costs, all while attempting to use the technology responsibly and ethically. While clinical literature on cfDNA screening has shown benefits for specific patient populations, it has also identified significant misunderstandings among providers and patients alike about the power of the technology. The unique features of cfDNA screening, in comparison to established prenatal testing technologies, have implications for informed decision-making and genetic counselling that must be addressed to ensure ethical practice.OBJECTIVES: This study explored the experiences of prenatal care providers at the forefront of non-invasive genetic screening in the United States to understand how this testing changes the practice of prenatal medicine. We aimed to learn how the experience of providing and offering this testing differs from established prenatal testing methodologies. These differences may necessitate changes to patient education and consent procedures to maintain ethical practice.METHODS: We used the online American Congress of Obstetricians and Gynecologists Physician Directory to identify a systematic sample of five prenatal care providers in each U.S. state and the District of Columbia. Beginning with the lowest zip code in each state, we took every fifth name from the directory, excluding providers who were retired, did not currently practice in the state in which they were listed, or were not involved in a prenatal specialty. After repeating this step twice and sending a total of 461 invitations, 37 providers expressed interest in participating, and we completed telephone interviews with 21 providers (4.6%). We developed a semi-structured interview guide including questions about providers' use of and attitudes toward cfDNA screening. A single interviewer conducted and audio-recorded all interviews by telephone, and the interviews lasted approximately 30 minutes each. We collaboratively developed a codebook through an iterative process of transcript review and code application, and a primary coder coded all transcripts.RESULTS: Prenatal care providers have varying perspectives on the advantages of cfDNA screening and express a range of concerns regarding the implementation of cfDNA screening in practice. While providers agreed on several advantages of cfDNA, including increased accuracy, earlier return of results, and decreased risk of complications, many expressed concern that there is not enough time to adequately counsel and educate patients on their prenatal screening and testing options. Providers also agreed that demand for cfDNA screening has increased and expressed a desire for more information from professional societies, labs, and publications. Providers disagreed about the healthcare implications and future of cfDNA screening. Some providers anticipated that cfDNA screening would decrease healthcare costs when implemented widely and expressed optimism for expanded cfDNA screening panels. Others were concerned that cfDNA screening would increase costs over time and questioned whether the expansion to include microdeletions could be done ethically.CONCLUSIONS: The perspectives and experiences of the providers in this study allow insight into the clinical benefit, burden on prenatal practice, and potential future of cfDNA screening in clinical practice. Given the likelihood that the scope and uptake of cfDNA screening will continue to increase, it is essential to consider how these changes will affect frontline prenatal care providers and, in turn, patients. Providers' requests for additional guidance and data as well as their concerns with the lack of time available to explain screening and testing options indicate significant potential issues with patient care. It is important to ensure that the clinical integration of cfDNA screening is managed responsibly and ethically before it expands further, exacerbating pre-existing issues. As prenatal screening evolves, so should informed consent and the resources available to women making decisions. The field must take steps to maximize the advantages of cfDNA screening and responsibly manage its ethical issues.