Green Nancy S, Rinaldo Piero, Brower Amy, Boyle Coleen, Dougherty Denise, Lloyd-Puryear Michele, Mann Marie Y, Howell Rodney R
Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
Genet Med. 2007 Nov;9(11):792-6. doi: 10.1097/gim.0b013e318159a38e.
The Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children is charged with advising the Secretary of the US Department of Health and Human Services in areas relevant to heritable conditions in children, especially newborn screening (NBS). This report describes the formulation by the Committee of a new process to nominate and review conditions to the recommended universal NBS panel. Nominations are currently being solicited. Committee review will adhere to the fundamental principles of being transparent, broadly accessible, evidence-based and consistent across the process for all of the proposed conditions across the process.
新生儿及儿童遗传性疾病咨询委员会负责就与儿童遗传性疾病相关的领域，特别是新生儿筛查（NBS），向美国卫生与公众服务部部长提供建议。本报告描述了委员会制定的一个新流程，用于提名和审查纳入推荐的通用新生儿筛查项目的疾病。目前正在征集提名。委员会的审查将遵循透明、广泛参与、基于证据以及在整个流程中对所有拟议疾病保持一致的基本原则。
