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Research Articles of Interest

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Newborn Screening Reports and Publications

National Newborn Screening Information System Incidence Reports

           2006                                               2005                                         

           2004                                               2003

           2002                                               2001

           10 Year Data Report: 1991-2000

CDC: The Increasing Incidence of Congenital Hypothyroidism in the United States: Current Trends and Future Directions (2010)

The President's council on Bioethics: The Changing Moral Focus of Newborn Screening: An Ethical Analysis (2009)

ACT Sheets and Screening Algorithms - ACMG (2006)

California NBS Program - Final Report on MS/MS Pilot (2006)

Lysosomal Storage Disorders (LSD) Symposium Synopsis (2005)

Uniform Newborn Screening Panel Report - Executive Summary ACMG, HRSA (2005)

Newborn Screening: Characteristics of State Programs - Government Accounting Office (2003)

Compendium of Resources on Newborn Screening Policy and System Development AAP (2002)

Newborn Screening Taskforce Report

National Newborn Screening Reports: 2001-Present
NBS program overviews, confirmed case information, and contacts. 
Reports for: 
 2000    1999    1998    1997    1996

US Newborn Screening System Guidelines II  (2000)

Health Supervision for those with Sickle Cell Disease  -AAP (1996)

Guidelines on Storage and Use of Residual Dried Blood Spots (1996)

US Newborn Screening System Guidelines  (1992)

Healthy People 2010
A statement of national health objectives.   

Achieving Success for All Children and Youth with Special Health Care Needs (CYSHCN) 
Draft of a 10 year plan to accompany Healthy People 2010. 


Genetics Publications

U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services  SACGHS (2008)

A Compendium of Resources on Genetic Testing of Children and Adolescents (2004)

Promoting Quality Laboratory Testing for Rare Diseases: Key to Ensuring Quality Genetic Testing
October 2004 meeting proceedings.

Applying Genetics and Public Health Strategies to Primary Immunodeficiency Diseases (2001)

Laboratory Standards and Guidelines for Population Based Cystic Fibrosis Carrier Screening (2001)

Integrating Genetic Services into Public Health - Guidance for State and Territorial Programs from the National Newborn Screening and Genetics Resource Center (NNSGRC) - PDF icon symbol
Community Genetics 4:3:2001, 175-196.  Available with permission from 
S. Karger AG, Basel (Switzerland). 

Enhancing the Oversight of Genetic Tests SACGT (2000)

Guidelines for Clinical Genetic Services for the Public's Health (1997)


*All material within this website is presented as a public service, and does not necessarily represent endorsement by the NNSGRC and its sponsoring agencies. Users of this website are responsible for checking the accuracy, completeness, currency, and/or suitability of all information contained herein.