Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children
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DOI:
10.1038/gim.2013.98
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发表时间:
2014-02-01
影响因子:
8.8
通讯作者:
Bocchini, Joseph A., Jr.
Bocchini, Joseph A., Jr.
中科院分区:
医学1区
文献类型:
--
作者:
Kemper, Alex R.;Green, Nancy S.;Bocchini, Joseph A., Jr.

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目的:美国卫生与公众服务部部长为各州新生儿筛查计划提供了关于筛查应包括哪些条件的指导(即,“推荐的统一筛选小组”)。该指南是由秘书的新生儿和儿童遗传性疾病咨询委员会的循证建议提供信息的。方法:2012年4月举行了一次专家小组会议,以修订有助于指导建议过程的决策汇总表。2013年1月,行预咨委会投票通过了订正决定汇总表。修订后的决策矩阵阐明了对指定条件下筛查新生儿人群的净效益的大小和确定性进行评级的方法,现在包括考虑国家新生儿筛查计划对人口的能力-通过评估各国采用提名条件筛选的可行性和准备程度,广泛实施。修订后的决策汇总表将提高质量、透明度,和修改推荐的统一筛查小组的过程的一致性,现在将允许正式评估国家新生儿筛查计划在采用新条件筛查时面临的挑战。
Purpose: The US Secretary of Health and Human Services provides guidance to state newborn screening programs about which conditions should be included in screening (i.e., the "Recommended Uniform Screening Panel"). This guidance is informed by evidence-based recommendations from the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. This report describes the Advisory Committee's revised decision-making process for considering conditions nominated to the panel.Methods: An expert panel meeting was held in April 2012 to revise the decision matrix, which helps to guide the recommendation process. In January 2013, the Advisory Committee voted to adopt the revised decision matrix.Results: The revised decision matrix clarifies the approach to rating magnitude and certainty of the net benefit of screening to the population of screened newborns for nominated conditions, and now includes the consideration of the capability of state newborn screening programs for population-wide implementation by evaluating the feasibility and readiness of states to adopt screening for nominated conditions.Conclusion: The revised decision matrix will bring increased quality, transparency, and consistency to the process of modifying the recommended uniform screening panel and will now allow formal evaluation of the challenges that state newborn screening programs face in adopting screening for new conditions.