The 2004 Newborn Screening and Genetic Testing Symposium was held in Atlanta, Georgia, from May 3-6, and brought together almost 400 laboratorians, follow-up professionals and metabolic specialist around the world. Participants came form 20 countries and every continent except Antarctica. It was the largest symposium ever and produced varied and expansive discussion on many aspects of newborn screening. The symposium also featured two pre conference workshops on Quality Assurance/Quality Control and Follow Up issues. Sessions during the meeting included topics on Immune Disorders, Tandem Mass Spectrometry, Ethics, State Issues, Cystic Fibrosis, and Genomics to name a few.
Monday, May 3, 2004
Quality Assurance/Quality Control
Practical Applications of Quality Control, Selected Topics
Michael Toyoshima, Bio-Rad Laboratories
Implementation of Tandem Mass Spectrometry: Quality Control/Quality Assurance of the New York State Newborn Screening Program
Mark Morrissey, Wadsworth Center
Hemoglobinopathies Screening Quality Control in the North Carolina Newborn Screening Laboratory
Shu Chaing, North Carolina State Laboratory of Public Health
Proficiency Testing for Newborn Screening Phenotypic and Genotypic Confirmation Assays
Marie Earley, Centers for Disease Control and Prevention
State Practices For Short Term Follow-Up for Tandem Mass Spectrometry Screened Disorders
Interpretation and Follow-Up of Abnormal Newborn Screening Results from Tandem Mass Spectrometry
David Millington, Duke University Medical Center
Utilization of Follow-Up Services Following MSMS Screening Referral
Lisa Feuchtbaum, California Department of Health Services
Short-Term Follow-Up Practices in Iowa and Surrounding States
Judy Miller, Iowa Neonatal Metabolic Screening Program
Facilitated Discussion and Tallying of State’s Short-Term Follow-Up Practices
Judy Miller, Iowa Neonatal Metabolic Screening Program; Tonya Diehn, Iowa Department of Health; Julie Miller, Nebraska Department of Health and Human Services
(Presentation not available.)
Challenges and Issues Unique to Follow-Up in Newborn Screening
A National Survey of Newborn Screening Policies Concerning Samples Submitted Post-Transfusion
Pleasant Hooper, Louisiana Office of Public Health
Challenges and Lessons Learned in Newborn Screening Follow-Up
Sheila Neier, Washington State Department of Health
Muddling the Water: Effects of Prematurity, Nutrition, Transfusions, Antibiotics, etc. on Newborn Screening Results
Paul Fernhoff, Emory University
Ensuring Access to Treatment
Ensuring Treatment of Inborn Errors of Metabolism: Funding of Metabolic Foods and Formula
Judith Tuerck, Oregon Health and Science University
Access to Treatment – A Parent’s Perspective
Jennifer Heberer, Portland, Maine
Tuesday, May 4, 2004
Hot Topics
Criteria for Test Panel Selection: American College of Medical Genetics Survey Results
Michael Watson, American College of Medical Genetics
New Initiatives of National Institutes of Health
R. Rodney Howell, National Institutes of Health, NICHD
(Presentation not available.)
Overview of Committee’s Charge
R. Rodney Howell, Chair and William Becker, Member, HHS Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
Cystic Fibrosis
The Current Status of Newborn Screening for Cystic Fibrosis
Philip Farrell, University of Wisconsin
Newborn Screening for Cystic Fibrosis in the US: A Varied Array of Implementation Strategies
Nancy Green, March of Dimes Birth Defects Foundation
Implementation of Neonatal Screening for Cystic Fibrosis Using Immunoreactive Trypsin and Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation Analyses
Kenneth Pass, Wadsworth Center
The Effect of Adding Multiple Allele Testing for Cystic Fibrosis
Gary Hoffman, Wisconsin State Laboratory of Hygiene
Systems for Communication: Data and Reflections from Massachusetts Experience
Anne Comeau, New England Newborn Screening Program
(Presentation not available.)
Newborn Screening for Childhood Immune Ravinia Ballroom ABCD Disorders: From Immunodeficiency to Autoimmunity
Introduction and Overview of CDC Program
Robert Vogt, Centers for Disease Control and Prevention
(Presentation not available.)
Treatment and Prognosis of Children with Severe Combined Immunodeficiency Disorders (SCID)
Rebecca Buckley, Duke University
(Presentation not available.)
Detecting SCID from Newborn Dried Blood Spots
Jennifer Puck, National Institutes of Health
(Presentation not available.)
Inherited and Acquired Risk for Autoimmunity
Jin Xiong She, Medical College of Georgia
Immune Intervention for Prevention of Type 1 Diabetes
Ake Lernmark, University of Washington
Wednesday, May 05, 2004
Tandem Mass Spectrometry – State/Organization Reports
Final Report on California’s Tandem Mass Spectrometry Pilot Project
Fred Lorey, California Department of Health Services
Newborn Screening with Tandem Mass Spectrometry: The Oregon and Northwest Regional Newborn Screening Programs
Cheryl Hermerath, Oregon State Public Health Laboratory
Delaware’s Experience with the Implementation of a MSMS Data Merge and MSMS Reporting System
Patricia Scott, Delaware Public Health Laboratory
The Six Year Follow-Up Experience for MSMS Newborn Screening In North Carolina: Outcomes & Predictive Value of Abnormal Results
Dianne Frazier, University of North Carolina at Chapel Hill
The Diagnosis of LCHAD Deficiency by Newborn Screening Using Tandem Mass Spectrometry
Dietrich Matern, Mayo Clinic and Foundation
Risk Factors for Elevated Tyrosine (TYR) in MSMS Newborn Screening
Kimberly Cobb, University of North Carolina at Chapel Hill
Tandem Mass Spectrometry – New Initiatives
Galactosemia Screening Using Tandem Mass Spectrometry
Henrik Simonsen, National University Hospital, Denmark
Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia (CAH) by 2nd Tier Steroid Profiling Using Tandem Mass Spectrometry
Piero Rinaldo, Mayo Clinic
Assay for Biotinidase Deficiency by Tandem Mass Spectrometry
Blas Cerda, PerkinElmer Life and Analytical Sciences
MSMS and Lysosomal Disorders Screening
Enzo Ranieri, South Australian Neonatal Screening Centre
Comparison of the Derivitized and the Non-Derivitized Tandem Mass Spectrometric Methods for the Detection of Metabolic Disorders in Newborns
Ajit Bhandal, California Department of Health Services
Unsatisfactory Terminology & Outdated Follow-Up Approaches in the Age of Multi-Analyte Screening
Donald Chace, Pediatrix Screening
Ethics
Talking With Parents About Newborn Screening – What Are The Issues?
Ellen Wright Clayton, Vanderbilt University
Incidental Finding of Carrier Status in Newborns: Should it be Disclosed?
Lainie Friedman Ross, University of Chicago
A Regional Project to Determine Attitudes About the Ethical, Legal, and Social Issues Surrounding Current and Future Newborn Screening for Diseases
Lianne Hasegawa, Hawaii Department of Health
The Impact of Obtaining Documented Informed Consent for Population-based Voluntary Supplemental Newborn Screening in California
Lisa Faulkner, California Department of Health Services
State Issues
State/Private Partnership: Nebraska’s Experience Moving from a Multi-lab to Single Lab System
Julie Miller, Nebraska Department of Health & Human Services
A Regional Approach for Developing a Successful State Newborn Screening Program
Sylvia Au, Hawaii Department of Health
Integrating Newborn Dried Blood Spot Screening Systems with Other Early Child Health Information Systems
Alan Hinman, Public Health Informatics Institute
Expanding Newborn Screening: The Minnesota Model
Mark McCann, Minnesota Department of Health
Expanded Newborn Screening: The Mississippi Model
Daniel Bender, Mississippi Department of Health
Summary of National Newborn Screening Educational Brochure Review
Terry Davis, Louisiana State University
Thursday, May 06, 2004
Dried Blood Spots (DBS) and Genomics – Part 1
Ethical and Regulatory Issues in the Use of Stored Newborn Screening Specimens for Research
Jeffrey Botkin, University of Utah
2003 APHL State Survey on Storage and Use of Residual Dried Blood Spots
Richard Olney, Center for Disease Control and Prevention
Update on Use of New Genomic Technologies Using Dried Blood Spots
Michele Caggana, Wadsworth Center
Universal Newborn Hearing Screening: Integration of Genetic Services
Karin Dent, University of Utah
Geographical and Ethnic Variations of MTHFR Variants Using Dried Blood Spots from 7000 Newborns in 16 Areas Worldwide
David Erickson, Centers for Disease Control and Prevention
Dried Blood Spots (DBS) and Genomics – Part 2
Mutational Analysis of Phenylalanine Hydroxylase as a Confirmatory Newborn Screening Test in Texas
Susan Tanksley, Texas Department of Health
Confirmatory DNA Testing of Hemoglobinopathies in Texas
Susan Tanksley, Texas Department of Health
Newborn Screening of CFTR Mutations Using Liquid Chip Chemistry
Gary Hoffman, Wisconsin State Laboratory of Hygiene
State Uses of Residual Dried Blood Spots for Public Health Genomic Research – Evaluating Genetic Suseptibility to Meningococcal and Pneumococcal Disease Using Dried Blood Spots
Shanta Zimmer, Emory University School of Medicine
Analysis of State Policies Around Use and Release of Stored Dried Blood Spots
Alissa Johnson, National Conference of State Legislatures
(Presentation not available.)
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