Modern Genetic Testing in Pediatric Critical Care Environment

描述(由申请人提供)：该研究计划的长期目标是为儿科危重护理人员确定合理的社会和伦理标准，为他们的患者家属提供急性诊断或治疗性基因测试的建议。儿科重症监护病房的儿科患者的急性诊断或治疗指征的基因检测带来了临床、伦理和社会挑战，这可能不同于其他临床环境中的基因检测，如计划生育、产前咨询或选择性检测。这个项目试图理解几组截然不同的社会事实/行为和道德规范，并为实证研究奠定基础。第一个比较是儿科重症监护病房(PICU)的决策过程与基因检测和咨询过程之间的比较。第二个潜在的对比是产生诊断信息的“基因测试”和产生直接临床相关结果的“基因测试”之间的差异。我们假设，父母和临床医生将描述现代危重护理环境中基因检测的实际、社会和伦理问题以及障碍。为了确定儿科重症监护环境下临床决策的相关领域，我们提出了三个具体目标。具体目标1：描述PICU患者、重症监护从业者、遗传学家和遗传咨询师对现代基因检测在儿科重症监护环境中应用的知识和态度。具体目标2：描述在他们的孩子处于危重护理期间SDM决策的动态和影响，考虑可能影响家庭如何考虑和协商复杂的治疗决定的个人、人际、家庭、文化、种族、民族、宗教和环境(包括提供者与家庭之间的互动和沟通)因素。具体目标3：开发一个概念模型，描述现代儿科危重环境中基因检测相关决策的影响因素。这项探索性研究的目的是为在国家儿科重症监护病房网络((http://www.nichd.nih.gov/research/supported/cpccrn.cfm)和RO1拨款申请中开展更广泛的调查产生初步数据。 公共卫生相关性：在急性情况下对复杂的临床综合征进行现代基因检测的一个中心问题是，获得的遗传信息不仅可能对当前的护理决策产生影响，而且可能对未来的护理产生影响。这一研究项目的目标是确定研究领域的特点，为儿科危重照顾者及其患者家属的现代基因检测制定合理的社会和伦理建议。

DESCRIPTION (provided by applicant): The long-term goal of this research program is to determine sound social and ethical criteria for pediatric critical caregivers to provide recommendations for acute diagnostic or therapeutic genetic testing for their patients' families. The genetic testing for acute diagnostic or therapeutic indications in pediatric patients admitted to pediatric intensive care units poses clinical, ethical and social challenges that may differ from genetic testing in other clinical settings such as family planning, prenatal counseling or elective testing. This project seeks to understand--and to formulate a basis for empirical study of--several contrasting sets of social facts/behaviors and ethical norms. The first comparison is between the decision-making process in the pediatric intensive care unit (PICU) and the process in genetic testing and counseling. The second potential contrast is between "genetic testing" to produce diagnostic information and to produce results of immediate clinical relevance. We hypothesize that parents and clinicians will describe practical, social and ethical concerns and barriers to genetic testing in a critical care environment in the modern era. In order to determine the relevant domains in clinical decision-making in the pediatric critical care environment, we propose three specific aims. Specific Aim 1: Characterize the knowledge and attitudes of surrogate decision makers (SDM) of PICU patients, critical care practitioners, geneticists and genetic counselors about the application of genetic testing in the modern era in the pediatric critical care environment. Specific Aim 2: Describe the dynamics and influences of SDM decision-making while their child is in critical care, considering individual, interpersonal, familial, cultural, racial, ethnic, religious and environmental (including provider-family interaction and communication) factors that may influence how families contemplate and negotiate complex treatment decisions. Specific Aim 3: Develop a conceptual model that delineates the factors influencing decision-making related to genetic testing in the modern era in pediatric critical environment. The purpose of this exploratory study is to generate preliminary data for development of broader-based investigation in a national pediatric intensive care unit network (http://www.nichd.nih.gov/research/supported/cpccrn.cfm ) and an RO1 grant submission. PUBLIC HEALTH RELEVANCE: A central issue with modern genetic testing for a complex clinical syndrome in the acute setting is that the genetic information obtained may not only have an impact on current care decisions but also on future care. The goal of this research project is to characterize the research domains for developing sound social and ethical recommendations for modern genetic testing for pediatric critical caregivers and their patients' families.