Colorado Department of Public Health and Environment, Denver, Colorado, USA.
Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.
The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is charged with evaluating conditions nominated for addition to the uniform screening panel and consequently making recommendations to the secretary of the US Department of Health and Human Services. This report describes the framework by which the committee approaches its task. Key decision nodes include initial review of every nomination to determine whether conditions are amenable for systematic evidence review, review of systematic evidence reviews conducted by the committee's external review group, and deliberation and formal recommendation for addition or exclusion to the uniform panel. Data analyzed include the accuracy and specificity of screening and diagnostic tests for nominated disorders, the extent of predicted health benefits, harms impact on disease course, and cost from early diagnosis and treatment. The committee process is guided by approaches used by similar entities, but more flexible criteria are sometimes needed to accommodate data limitations stemming from the rarity of many of these conditions. Possible outcomes of committee review range from recommendation to add a nominated condition to the uniform panel; provide feedback on specific gaps in evidence that must be addressed before making a decision; or rejection of a nomination (e.g., because of identified harms). The committee's structured evidence-based assessment of nominated conditions supports a consistently rigorous, iterative and transparent approach to its making recommendations regarding broad population-based screening programs for rare conditions in infants and children.
美国卫生与公众服务部部长顾问委员会负责评估候选新增疾病，并向部长提出建议。本报告描述了委员会完成任务的方法。主要决策节点包括：初次审查每个候选疾病，以确定其是否适合系统的证据审查；审查委员会外部审查组进行的系统证据审查；以及对新增或排除统一筛查项目进行审议和正式建议。分析的数据包括筛查和诊断测试的准确性和特异性、预测健康收益的程度、对疾病进程的影响以及早期诊断和治疗的成本。委员会的决策过程遵循类似机构使用的方法，但有时需要更灵活的标准来适应这些罕见疾病数据有限的情况。委员会审查的可能结果包括：建议将候选疾病列入统一筛查项目；就必须解决的证据具体差距提供反馈，然后再做出决定；或拒绝提名（例如，由于发现的危害）。委员会对候选疾病进行的结构化循证评估，为其就婴儿和儿童罕见疾病的广泛人群筛查项目提出建议提供了一种始终如一的严格、迭代和透明的方法。
