ASSESSMENT OF THE BENEFITS, RISKS AND COSTS OF NEONATAL SCREENING FOR CF

评估新生儿 CF 筛查的益处、风险和成本

• 批准号: 7375552
• 负责人: PHILIP M FARRELL
• 金额: $ 7.06万
• 依托单位: UNIVERSITY OF WISCONSIN-MADISON
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-12-01 至 2006-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7375552
• 关键词: ASSESSMENT; BENEFITS; RISKS; COSTS; NEONATAL

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. (from CRISP website) Although cystic fibrosis (CF) is the most common, life-threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence initiation of treatment. Advances of the past two decades have made CF screening feasible using routinely collected neonatal blood specimens and determining trypsinogen levels and CF mutations by DNA analyses. Our overall goal is to address the following hypothesis: Early diagnosis of CF through neonatal screening will be medically beneficial without major risks. "Medically beneficial" refers to better nutritional and/or pulmonary status, whereas "risks" include laboratory errors, potential iatrogenic medical sequelae, miscommunication or misunderstanding and adverse psychosocial consequences. Specific aims include assessment of the benefits, risks, costs, quality of life, and cognitive function associated with CF neonatal screening and delineation of the characteristic epidemiologic features of CF. A comprehensive, randomized clinical trial emphasizing early diagnosis as the key variable has been underway since 1985. Nutritional status has been assessed by anthropometric and biochemical methods, and the results have demonstrated significant benefits in the screened group. Answering the important questions about pulmonary outcome will require five more years of follow-up evaluation focused on lung function measures and quantitative chest radiology, including high resolution computerized tomography. If the questions underlying this study are answered favorably, it is likely that neonatal screening using a combination of trypsinogen and DNA tests will become the routine method for identifying new cases of CF and that diagnosis in early infancy will allow prevention of many clinically-significant problems such as malnutrition. If CF neonatal screening is implemented nationally, however, several epidemiologic gaps must be closed, and this will require more precise data on the course of this disease and determination of risk factors for pulmonary infections with Pseudomonas aeruginosa. This project will generate that important information, as well as essential data on the quality of life and cognitive function of children with CF who experience early or delayed diagnosis. We will also clarify the risks of screening and delineate for the first time the costs of diagnosis and treatment of CF throughout childhood as well as the cost-effectiveness of screening.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中得到体现。列出的机构是中心的机构，不一定是研究者的机构。 （来自 CRISP 网站）尽管囊性纤维化 (CF) 是白人中最常见、危及生命的常染色体隐性遗传病，但诊断和治疗的开始常常会出现延误。过去二十年的进步使得通过常规采集新生儿血液样本并通过 DNA 分析确定胰蛋白酶原水平和 CF 突变来进行 CF 筛查变得可行。我们的总体目标是解决以下假设：通过新生儿筛查早期诊断 CF 将在医学上有益，且无重大风险。 “医学上有益”是指更好的营养和/或肺部状况，而“风险”包括实验室错误、潜在的医源性医疗后遗症、沟通不畅或误解以及不良的社会心理后果。 具体目标包括评估与 CF 新生儿筛查相关的获益、风险、成本、生活质量和认知功能，以及描述 CF 的流行病学特征。自 1985 年以来，一直在进行一项强调早期诊断作为关键变量的综合随机临床试验。通过人体测量和生化方法评估营养状况，结果表明筛选组具有显着的益处。回答有关肺部结果的重要问题将需要五年的后续评估，重点是肺功能测量和定量胸部放射学，包括高分辨率计算机断层扫描。如果这项研究背后的问题得到了积极的回答，那么结合胰蛋白酶原和 DNA 检测进行新生儿筛查可能会成为识别新发 CF 病例的常规方法，并且婴儿早期的诊断将有助于预防许多具有临床意义的问题比如营养不良。 然而，如果在全国范围内实施 CF 新生儿筛查，则必须弥补一些流行病学空白，这将需要有关该疾病病程的更精确数据，并确定铜绿假单胞菌肺部感染的危险因素。该项目将生成这些重要信息，以及有关早期或延迟诊断的 CF 儿童的生活质量和认知功能的基本数据。我们还将阐明筛查的风险，并首次描述整个儿童期 CF 的诊断和治疗费用以及筛查的成本效益。