Committee Report: Advancing the current recommended panel of conditions for newborn screening

被引:23
作者
Green, Nancy S.
Rinaldo, Piero
Brower, Amy
Boyle, Coleen
Dougherty, Denise
Lloyd-Puryear, Michele
Mann, Marie Y.
Howell, Rodney R.
机构
[1] Columbia Univ, Med Ctr, Dept Pediat, New York, NY USA
[2] Mayo Clin, Rochester, MN USA
[3] Third Mol Diagnosis, S Sioux City, NE USA
[4] US Dept Hlth & Human Serv, Ctr Dis Control & Prevent, Atlanta, GA USA
[5] US Dept Hlth & Human Serv, Agcy Hlthcare Res & Quality, Rockville, MD USA
[6] US Dept Hlth & Human Serv, US Hlth Resources & Serv Adm, Rockville, MD USA
[7] Univ Miami, Dept Pediat, Coral Gables, FL 33124 USA
关键词
newborn screening; genetic screening; evidence-based review; heritable disorders; nomination process;
D O I
10.1097/GIM.0b013e318159a38e
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 :ible, evidence-based and consistent across the process for all of the proposed conditions across the process.
引用
收藏
页码:792 / 796
页数:5
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