Modern Genetic Testing in Pediatric Critical Care Environment

儿科重症监护环境中的现代基因检测

• 批准号: 7936712
• 负责人: JEFFREY S. UPPERMAN
• 金额: $ 7.93万
• 依托单位: CHILDREN'S HOSPITAL OF LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2012-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7936712
• 关键词: Acute; Attitude; Behavior; Caregivers; Caring; Child; Childhood; Clinical; Communication; Complex; Counseling; Critical Care; Data; Decision Making; Development; Diagnostic; Environment; Ethics; Family; Family Planning; Future; Genetic; Genetic screening method; Goals; Grant; Individual; Investigation; Knowledge; Mediation; Modeling; Parents; Patients; Pediatric Intensive Care Units; Process; Professional counselor; Provider; Recommendation; Religion and Spirituality; Research; Research Project Grants; Research Support; Syndrome; Testing; Therapeutic; base; clinically relevant; family influence; prenatal; programs; public health relevance; racial and ethnic; social; sound; surrogate decision maker

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.

描述（由申请人提供）：本研究计划的长期目标是确定儿科危重护理人员的合理社会和伦理标准，为其患者家属提供急性诊断或治疗性基因检测的建议。在儿科重症监护病房收治的儿科患者中进行急性诊断或治疗适应症的基因检测带来了临床，伦理和社会挑战，这些挑战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。这个项目旨在了解-并制定一个基础的实证研究-几套对比的社会事实/行为和道德规范。第一个比较是儿科重症监护室（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“基因检测”产生诊断信息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实际，社会和伦理问题和障碍，基因检测在一个关键的护理环境在现代时代。为了确定在儿科重症监护环境中的临床决策的相关领域，我们提出了三个具体的目标。具体目标1：描述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）对现代儿科重症监护环境中基因检测应用的知识和态度。具体目标二：描述SDM决策的动态和影响，而他们的孩子是在重症监护，考虑个人，人际关系，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）的因素，可能会影响家庭如何考虑和谈判复杂的治疗决定。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相关决策的因素。本探索性研究的目的是生成初步数据，用于在国家儿科重症监护室网络（http：//www.example.com）中开展更广泛的研究，并提交RO 1资助申请。www.nichd.nih.gov/research/supported/cpccrn.cfm 公共卫生相关性：在急性环境中对复杂临床综合征进行现代基因检测的一个核心问题是，所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。本研究项目的目标是描述研究领域的特点，为儿科关键护理人员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。