Conference Proceedings

2008 Newborn Screening and Genetics Testing Symposium
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The 2008 Newborn Screening and Genetic Testing Symposium was held in San Antonio, Texas, from November 3-6, 2008, and brought together almost 400 laboratorians, follow-up professionals and metabolic specialists from around the world. Participants came from all 50 states and 21 countries. It produced varied and expansive discussion on many aspects of newborn screening. The symposium also featured two pre-conference sessions on Quality Management System in Newborn Screening Laboratories and Short-term and Long-term Follow-up. Sessions during the meeting included topics on New and Emerging Technologies in the Laboratory, Candidate Conditions for Expanding Newborn Screening Panel, Quality Improvement Throughout the Newborn Screening System, Patient Perspectives of Newborn Screening, Other Financial, Ethical, Legal and Social Implications, Access to Treatment and Management, Health Information Technology: Applications and Advancements, Global Perspectives of Newborn Screening and Late Breaking Topics.

Slide Presentations

The symposium schedule is listed below and those presentations with links have been authorized to be posted on this Web site. Duplication is not authorized without the express written permission of the authors. The author and “2008 NBS&GTS” must be cited once permission is received.

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Monday, November 3, 2008

           Quality Management System in Newborn Screening Laboratories – Pre-Conference
           Sponsored by PerkinElmer, Inc.

           Panel Discussion – MS/MS Issues and Solutions: Open Forum
           Moderator - Gary Hoffman, Wisconsin State Laboratory of Hygiene
 
           Joanne Mei, Centers for Disease Control and Prevention
           Donald Chace, Pediatrix Screening, Inc.
           Lawrence Sweetman, Insitute of Metabolic Disease

           Panel Discussion – MS/MS Applications Beyond Routine Screening: Open Forum
           Moderator – Kenneth Pass, Wadsworth Center
 
           Dietrich Matern, Mayo Clinic College of Medicine
           Victor De Jesus, Centers for Disease Control and Prevention
           Dadong Xu, California Department of Public Health


           Short-term and Long-term Follow-up – Pre-Conference
           Sponsored by PerkinElmer, Inc.
 
           Moderators – Julie Miller, Nebraska Department of Health and Human Services
                                    Lori Williamson, University of Oklahoma Health Sciences Center

           Interactive Discussion of Case Scenarios, Definitions and Timelines
           - Sara Copeland, University of Iowa Children’s Hospital
           - Judi Tuerck, Oregon Health & Science University

           NYMAC Newborn Screening Screen Positive Follow-up Protocols
           - Katharine Harris, Wadsworth Center

           Increasing Family Participation in Newborn Screening Programs
           - Kimberly Noble Piper, Iowa Department of Public Health

           Survey of Performance Measures Used by Newborn Screening Programs
           - Simran Tiwana, Texas Department of State Health Services

           Update from the Secretary’s Advisory Committee Subcommittee on Follow-up
           - Colleen Boyle, Centers for Disease Control and Prevention

           Newborn Screening Information Systems: Region IV Genetics Collaborative Priority
           Project
           - Susan Berry, University of Minnesota

           Providing Nutrition Services to Patients: Access to Diets and Dietitians
           - Kathryn Camp, Walter Reed Army Medical Center

           Long-term Follow-up Services and Outcomes: Oklahoma’s Experience
           - Jennifer Allen, Oklahoma Department of Health


           Opening Session
           Moderator – Susan Tanksley, Texas Department of State Health Services

           Welcome to Texas and San Antonio
           - Susan Neill, Texas Department of State Health Services

           Keynote
           Life of Newborn Screening: Past, Present and Future

           - Harry Hannon, Centers for Disease Control and Prevention
           - Brad Therrell, National Newborn Screening and Genetics Resource Center


Tuesday, November 4, 2008

           Roundtables

           A Roundtable Discussion on Health Insurance Reimbursement Issues for Medically
           Prescribed Foods and Nutraceutical Agents: A National Dilemma
           - Susan Berry, University of Minnesota

           A Roundtable Discussion of Hemoglobinopathy Technologies Currently Available or in
           Development
           Moderator – Susan Tanksley, Texas Department of State Health Services

           - Jeff Seidel, Bio-Rad Laboratories
           - Petri Hutinen, PerkinElmer, Inc.
           - Genevieve Hennache, Sebia Electrophoresis
           - Diane Chritton, Trinity Biotech


           Session 1 – New and Emerging Technologies in the Laboratory 1
           Moderators - Cheryl Hermerath, Oregon Public Health Laboratory
                                   Robert Vogt, Centers for Disease Control and Prevention
    
           Multiplexing for Newborn Screening: Reports on CH, CF, CH and CF and Hematocrit
           - Kenneth Pass, Wadsworth Center

           Screening for CAH by MS/MS as a Primary Screen
           - Robert Thompson, Cadham Provincial Laboratory

           Effective and Affordable 1st Tier Newborn Screening for Tyrosinemia Type 1
           - Dietrich Matern, Mayo Clinic College of Medicine


           Session 2 – New and Emerging Technologies in the Laboratory 2
           Moderators - Brad Therrell, National Newborn Screening and Genetics Resource Center
                                   Kenneth Pass, Wadsworth Center

           Molecular Confirmation of Disorders Detected by Newborn Screening: What and When to
           Request
           - Madhuri Hegde, Emory University

           Next-Generation Sequencing, Other New Molecular Technologies and Newborn
           Screening
           - Patricia Mueller, Centers for Disease Control and Prevention

           Digital Microfluidics: A Novel Platform for Multiplexed Detection of Lysosomal Storage
           Diseases with Potential for Neonatal Screening
           - David Millington, Duke University


           Luncheon
           Moderator – Brad Therrell, National Newborn Screening and Genetics Resource Center

           Newborn Thyroid Screening – Development and History
           - Delbert Fisher, University of California, Los Angeles


           Session 3 – Candidate Conditions for Expanding Newborn Screening Panel
           Moderators - Coleen Boyle, Centers for Disease Control and Prevention
                                   Joseph Orsini, Wadsworth Center

           Newborn Screening for Krabbe Disease in New York State: First Two Years
           - Carlos Saavedra-Matiz, Wadsworth Center

           Neonatal Screening for Pompe Disease: A Feasibility Study
           - Zoltan Lukacs, Hamburg University Medical Center

           Newborn Screening for Fragile X Syndrome: Current Perspectives, Issues and Activities
           - Donald Bailey, RTI International

           Newborn Screening for Peroxisomal Disorders
           - Sylvia Tortorelli, Mayo Clinic College of Medicine


           Session 4 – Quality Improvement Throughout the Newborn Screening System
           Moderators - Susan Berry, University of Minnesota
                                   Susan Tanksley, Texas    Department of State Health Services

           The Heartland Newborn Screening Back-up Testing Project: Quality Assurance Findings
           - Patrick Hopkins, Missouri Public Health Laboratory

           MSGRCC Metabolic Newborn Screening Long-term Follow-up Study: A Collaborative
           Multi-state Approach to Newborn Screening Outcome Research
           - Erica Wright, The Children’s Hospital – Denver

           Improving Newborn Screening Performance: The Mayo Clinic Experience
           - Dietrich Matern, Mayo Clinic College of Medicine

           Clinical and Laboratory Standards Institute “Newborn Screening Guidelines for
           Premature and/or Sick Newborns”: An Update
           - Julie Miller, Nebraska Department of Health and Human Services


Wednesday, November 5, 2008

           Ad Hoc Session
           Newborn Screening Contingency Planning Panel Discussion

           - Jane Getchell, Delaware Public Health Laboratory, moderator
           - Susan McClure, Centers for Disease Control and Prevention
           - Michael Watson, American College of Medical Genetics
           - Stanton Berberich, University of Iowa Hygienic Laboratory

 
           Session 5 – Patient Perspectives of Newborn Screening
           Moderators - Julie Miller, Nebraska Department of Health and Human Services
                                   Lianne Hasegawa, Hawaii Department of Health

           Development of a Parent Education Strategy for Expanded Newborn Screening in
           Ontario: A Survey of Prenatal Educators’ Practices and Perspectives
           - Mireille Cloutier, Children’s Hospital of Eastern Ontario

           Parent Support of Storage and Use of Newborn Screening Samples for Research
           Purposes
           - Beth Tarini, University of Michigan

           Consumer Focused Newborn Screening: A Quantitative Approach
           - Natasha Bonhomme, Genetic Alliance

           Panel with Patients Who Have Transitioned to Adulthood


           Session 6 – Other Financial, Ethical, Legal and Social Implications
           Moderators - Susan McClure, Centers for Disease Control and Prevention
                                   Natasha Bonhomme, Genetic Alliance

           Diagnosing Cystic Fibrosis in Newborns Through Screening: Still a Bit of an Odyssey
           - John Thompson, Washington State Department of Health

           Newborn Screening for Tyrosinemia Type 1: Benefit-cost Ratios and Underlying Morbidity
           and Mortality Under Three Screening Models
           - Jessica Dolle, Washington State Department of Health

           Genetic Health Professionals’ Attitudes About Fragile X Newborn Screening
           - Kruti Acharya, University of Chicago

           Perspectives on the Newborn Screening Saves Lives Act
           - Susan McClure, Centers for Disease Control and Prevention
           - Kelly Leight, CARES Foundation, Inc.


           Session 7 – Access to Treatment and Management
           Moderators - Judi Tuerck, Oregon Health & Science University
                                  Scott McLean, Wilford Hall Medical Center

           Developing Diagnostic Guidelines for Conditions in the Newborn Screening Panel
           - David Kronn, New York Medical College

           Role of Genetic Counselors in the Newborn Screening System: The Oklahoma
           Experience

           - Lori Williamson, University of Oklahoma Health Sciences Center

           A Short-term Follow-up Data System
           - Lisa Feuchtbaum, California Department of Public Health

           Centralized Tracking by Newborn Screening Programs Facilitate Follow-up with Multiple
           Specialty Centers
           - Anne Comeau, New England Newborn Screening Program


           Session 8 – Health Information Technology: Applications and Advancements
           Moderators  - Mark McCann, Minnesota Public Health Laboratory
                                    Lucy Fossen, South Dakota Department of Health

           Integration of the Kentucky Vital Events Tracking Systems (KVETS) with the Laboratory
           Information System (LIS) of the Kentucky Newborn Screening Program
           - William Baker, Kentucky Public Health Laboratory

           Integrating Information Management in Alaska – Newborn Hearing Screening and
           Newborn Bloodspot Screening
           - Lura Daussat, OZ Systems
           - Thalia Wood, Alaska Division of Public Health

           Reporting Lab Results for Newborn Dried Bloodspot Results Using an HL7 Message
           - David Ross, Public Health Informatics Institute

           The ONC Newborn Screening Use Case and New Roles for HIT in Screening Programs
           - Alan Zuckerman, Georgetown University Medical Center
           - Stephen Downs, Regenstrief Institute


Thursday, November 6, 2008

           Session 9 – Global Perspectives of Newborn Screening
           Moderators - Gerard Loeber, RIVM, Bilthoven, The Netherlands
                                   Pranesh Chakraborty, Children’s Hospital of Eastern Ontario, Canada

           Development of a Global Neonatal Screening Database
           - Gerard Loeber, RIVM, Bilthoven, The Netherlands

           Screening for Metabolic Diseases in Public Health System in Brazil
           - Paula Vargas, Technical Advisory Committee in Newborn Screening, Brazil Health
             Ministry

           Expansion of Newborn Screening in Ontario, Canada: Lessons Learned in the First Two
           Years
           - Sari Zelenietz, Children’s Hospital of Eastern Ontario, Canada

           Basic Hypothyroidism Newborn Screening Information for Policy Makers in Developing
           Newborn Screening Programs in the Middle East and North Africa

           - Brad Therrell, National Newborn Screening and Genetics Resource Center


           Session 10 – Late Breaking Topics
           Moderators - Harry Hannon, Centers for Disease Control and Prevention
                                   Donna Williams, Texas Department of State Health Services

           Alpha-1 Antitrypsin Deficiency
           - Robert A. Sandhaus, National Jewish Health
    
           Newborn Screening for Severe Combined Immunodeficiencies (SCID) – A 2008
           Wisconsin Perspective

           - Ronald Laessig, Wisconsin State Laboratory of Hygiene

           Newborn Screening for Severe Combined Immunodeficiencies (SCID) in Navajo Indians
           - Jennifer Puck, University of California, San Francisco
    
           Development and Validation of a Multiplex Assay for Identification of Infants with SCID
           - Anne Comeau, New England Newborn Screening Program

           Newborn Screening for Severe Combined Immune Deficiency (SCID): A Perspective
           from the CDC Newborn Screening Translation Research Initiative
           - Robert Vogt, Centers for Disease Control and Prevention

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