Modern Genetic Testing in Pediatric Critical Care Environment

描述（由申请人提供）：本研究项目的长期目标是为儿科重症护理人员确定健全的社会和伦理标准，以便为患者家属提供急性诊断或治疗性基因检测的建议。对儿科重症监护病房收治的儿科患者进行急性诊断或治疗指征的基因检测会带来临床、伦理和社会挑战，这可能与计划生育、产前咨询或选择性检测等其他临床环境中的基因检测不同。本项目旨在理解——并为实证研究奠定基础——几组对比鲜明的社会事实/行为和道德规范。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“基因检测”和产生直接临床相关性的结果之间的对比。我们假设父母和临床医生将描述在现代重症监护环境中进行基因检测的实际、社会和伦理问题和障碍。为了确定儿科重症监护环境中临床决策的相关领域，我们提出了三个具体目标。具体目的1：表征PICU患者、重症监护医生、遗传学家和遗传咨询师的代理决策者（SDM）对基因检测在现代儿科重症监护环境中的应用的知识和态度。具体目标2：描述他们的孩子在重症监护期间SDM决策的动态和影响，考虑到个人，人际，家庭，文化，种族，民族，宗教和环境（包括提供者-家庭互动和沟通）因素，这些因素可能影响家庭如何考虑和协商复杂的治疗决策。具体目标3：建立一个概念模型，描述在现代儿科关键环境中影响基因检测决策的因素。本探索性研究的目的是为在全国儿科重症监护病房网络（http://www.nichd.nih.gov/research/supported/cpccrn.cfm）中开展更广泛的调查和RO1拨款申请提供初步数据。

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.