Duke Clinical Research Institute, Durham, North Carolina, USA.
Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
Genet Med. 2014 Feb;16(2):183-7. doi: 10.1038/gim.2013.98. Epub 2013 Aug 1.
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.
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.
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.
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.
美国卫生与公众服务部部长为各州新生儿筛查项目提供了有关应纳入筛查的条件（即“推荐统一筛查组”）的指导意见。这一指导意见是基于部长遗传性新生儿和儿童疾病咨询委员会的循证建议。本报告描述了咨询委员会审议列入该组的提名条件的修订决策程序。
2012 年 4 月举行了一次专家小组会议，以修订决策矩阵，该矩阵有助于指导建议过程。2013 年 1 月，咨询委员会投票通过了修订后的决策矩阵。
修订后的决策矩阵明确了对提名条件进行筛查的新生儿总体人群进行筛查的净效益的大小和确定性的评分方法，现在还包括了对州新生儿筛查计划进行全人群实施的能力的考虑，通过评估各州对提名条件进行筛查的可行性和准备情况来进行。
修订后的决策矩阵将使修改推荐的统一筛查组的过程更加高质、透明和一致，并将允许对州新生儿筛查计划在采用新条件筛查方面所面临的挑战进行正式评估。
