The 2007 Newborn Screening and Genetic Testing Symposium was held in Minneapolis, MN from May 7-10, 2007, and brought together almost 400 laboratorians, follow-up professionals and metabolic specialists from around the world. Participants came from 46 states and 17 countries. It produced varied and expansive discussion on many aspects of newborn screening. The symposium also featured two pre-conference sessions on QA + QA + QCI = Quality Outcomes and Short-term Follow-up Issues. Sessions during the meeting included topics on Core and Secondary Conditions, Old Tests and New Information, Recent Newborn Screening Expansion Experiences, Program Evaluation and Program Integration Challenges, Education and Communication Experiences, Meeting the Diagnostic Challenge, Ethical/Social/Legal Solutions 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 “Newborn Screening and Genetic Testing Symposium” must be cited once permission is received.
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Monday, May 7, 2007
QA + QC + QCI = Quality Outcomes – Pre-Conference
Sponsored by Bio-Rad Laboratories
Moderators - Gary Hoffman, Wisconsin State Laboratory of Hygiene and Fizza Majid, Maryland Department of Health and Mental Hygiene
Newborn Screening Quality Assurance Update
Harry Hannon, Centers for Disease Control and Prevention
FDA Perspectives on Diagnostics Testing Quality in Newborn Screening
Courtney Harper, U.S. Food and Drug Administration
Quality Assurance Plan--Making it Work to Improve Laboratory Quality
Roger Eaton, New England Regional Newborn Screening Program
Quality "Control-Assurance-Assessment": A 21st Century View of the Regulations and What Actually Makes Sense
Ronald H Laessig, Emeritus Director, Wisconsin State Laboratory of Hygiene and Emeritus Professor, Population Health Sciences, University of Wisconsin, Madison
Short-term Follow-up Issues – Pre-Conference
Sponsored by PerkinElmer, Inc.
Moderators - Sara Copeland, Children’s Hospital of Iowa, Lois Taylor, Florida Department of Health and Dietrich Matern, Mayo Clinic College of Medicine
Integrated Information: A Useful Support for Follow-up
David Ross, Public Health Informatics Institute
Development of LOINC Codes for Newborn Screening
Shaun Grannis, Regenstrief Institute
ACT Sheets: Newborn Screening and Genetics
Michael Watson, American College of Medical Genetics
The Real World: Experiences Maintaining Newborn Screening Parent Fact Sheets
Sylvia Au, Hawaii Department of Health
California Newborn Screening Program with Tandem Mass Spectrometry: Establishing Cutoffs Based on Specimen Collection Time and Newborn Birth Weight
Ajit Bhandal, California Department of Health Services
A Metabolic Examination of Infants on TPN Used in the Care of Premature Infants and a Correlation to Observation in Newborn Screening
Donald Chace, Pediatric Analytical
The Impact of Blood Transfusions on Acylcarnitine and Amino Acid Analyses in Newborn Screening Blood Spots
Dietrich Matern, Mayo Clinic College of Medicine
Newborn Screening Short-term Follow-Up – HRSA Region 4 Activities
Gary Hoffman, Wisconsin State Laboratory of Hygiene
Opening Session
Moderator - Louise Liao, Minnesota Department of Health
If Not a Symphony, Then at Least Harmony
Sharon Terry, Genetic Alliance, Inc.
Tuesday, May 8, 2007
Roundtables
Developing Newborn Screening Internationally
Establishing a Newborn Screening Network in the Middle East and North Africa
Gilian Engelson, National Institutes of Health
National Institutes of Health Network Worldwide: Opportunities and Starting Point
R. Rodney Howell, National Institutes of Health
Principal Outcomes and Next Steps
James Hanson, National Institutes of Health
Current Status of Newborn Screening Programs in North Africa and the Middle East
Brad Therrell, National Newborn Screening and Genetics Resource Center
Newborn Screening in Lebanon and the Middle East
Issam Khneisser, St. Joseph University, Lebanon
MSGRCC: NBS Registry Project Overview
Rebecca Ann Anderson, Jeffrey Botkin and Catherine Staes, University of Utah
Session 1 – Core and Secondary Conditions – Future Directions
Moderators - Mark McCann, Minnesota Department of Health and Rodney Howell, National Institutes of Health
Tyrosine Results in MS/MS Newborn Screening: The Highs and Lows
Diane Frazier, University of North Carolina, Chapel Hill
Increased Incidence of CPT-1 in the Alaska Native Population
Thalia Wood, Alaska Department of Health & Social Services
C5-Hydroxy Acylcarnitine (C5OH) Elevations Detected in Newborn Screening Blood Spots in Minnesota
Susan Berry, University of Minnesota
Should Cobalamin C (CblC) Disease be a Core Target?
Fred Lorey, California Department of Health Services
Session 2 – Old Tests – New Information
Moderators - Harry Hannon, Centers for Disease Control and Prevention and Piero Rinaldo, Mayo Clinic College of Medicine
Improved Specificity of a New AutoDELFIA® Neonatal 17-OHP Candidate Kit
Toni Torresani, University Children’s Hospital
Newborn Screening for MSUD: Increased Specificity by Addition of 2nd-Tier Assay for Alloisoleucine by LC-MS/MS
Devin Oglesbee, Mayo Clinic College of Medicine
Newborn Screening for CAH by Turbulent Flow Chromatography and LC-MS/MS
Dietrich Matern, Mayo Clinic College of Medicine
Stabilities of Galactose-1-Phosphate Uridyltransferase and Total Galactose in Dried Blood Spots
Sharon Kerr, Centers for Disease Control and Prevention
Luncheon
Moderator - Louise Liao, Minnesota Department of Health
Newborn Bloodspot Screening: A Family Affair
Susan Berry, University of Minnesota and Bruce and Stephanie Sveen, parents of Nathan
Session 3 – Recent Newborn Screening Expansion Experiences
Moderators - Sara Copeland, Children’s Hospital of Iowa and Robert Vogt, Centers for Disease Control and Prevention
Newborn Screening for Krabbe Disease in New York State: The First Months
Carlos Saavedra-Matiz, Wadsworth Center
Neonatal Screening for Pompe Disease: Result from the Taiwan Screening Program
Joan Keutzer, Genzyme Corporation
Multi-center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis
Gary Hoffman, Wisconsin State Laboratory of Hygiene
A Regional Approach to Improving Health Care: Impact on the Kentucky Newborn Screening Program
James Lim, Mayo Clinic College of Medicine
Session 4 – Program Evaluation Challenges
Moderators - Cheryl Hermerath, Oregon State Public Health Laboratory and Michele Lloyd-Puryear, Health Resources and Services Administration
Using the National Newborn Screening Information System to Inform and Improve
Donna William, Texas Department of State Health Services, Fred Lorey, California Department of Health Services, Thalia Wood, Alaska Department of Health & Social Services and Julie Miller, Nebraska Health and Human Services System
Quality Assurance for Practitioners: 20 Years in the NW Region
Judi Tuerck, Oregon Health & Sciences University
Using Integrated Newborn Screening Data to Improve Quality at the Hospital Level
Kristi Zonno, Rhode Island Department of Health
Assessing and Evaluating Historical Data Contained in the National Newborn Screening Database
Vicki Hertzberg, Emory University
Newborn Screening System Self Assessment and Improved System Quality
Brad Therrell, National Newborn Screening and Genetics Resource Center, Julie Miller, Nebraska Health and Human Services System and Muthukrishnan Ramachandran, Georgia Department of Human Resources
Wednesday, May 9, 2007
Roundtables
A National Newborn Screening Research Network: Developing the Framework
NICHD Objectives and Priorities in Developing a National Collaborative Translational Research Infrastructure
James Hanson, National Institutes of Health
Remarks on a National Newborn Screening Research Network
R. Rodney Howell, National Institutes of Health
National Collaborative Research in Rare Genetic Diseases: An NICHD Funded Project
Michael Watson, American College of Medical Genetics
Discussion Questions
Gilian Engelson, National Institutes of Health
Newborn Screening Long-term Follow-up: A Framework, Challenges and Opportunities
Newborn Screening Long-term Follow-up (LTFU) Assessment
Christopher Kus, Association of Maternal and Child Health Programs
Short-term and Long-term Follow-up of the Neonatal Screening Program in The Netherlands
Gerard Loeber, RIVM
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children: Subcommittee on Follow-up and Treatment
Coleen Boyle, Centers for Disease Control and Prevention
Session 5 – Program Integration Challenges
Moderators - Marie Mann, Health Resources and Services Administration and Susan Berry, University of Minnesota
Integrating Newborn Hearing Screening Data with Dried Blood Spot Data for Improved Follow-up
Brad Therrell, National Newborn Screening and Genetics Resource Center, Sharmini Rogers, Missouri Department of Health and Lou Bartoshesky, Delaware Division of Public Health
Harmonization of Newborn Screening Dried Blood Spot Collection Devices
Jan Ostrup, PerkinElmer, Inc.
Comprehensive Newborn Screening Program for Department of Defense Infants
Kathryn Camp, Walter Reed Army Medical Center and Scott McLean, San Antonio Military Medical Center
A Second-Tier Screening Approach for CAH: Oklahoma's Experience
Kathy Kirk, Oklahoma Department of Health
Session 6 – Education/Communication Experiences
Moderators - Lois Taylor, Florida Department of Health and Kristi Bentler, University of Minnesota
Medically Prescribed Formula and Pharmacotherapeutic Agents
Susan Berry, University of Minnesota
Using Telemedicine to Provide Follow-Up Newborn Screening Services
Lianne Hasegawa, Hawaii Department of Health
An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers
Theresa Steckel, Oklahoma Department of Health
Quality Assurance Activities Improve the Newborn Screening System
Gary Hoffman, Wisconsin State Laboratory of Hygiene
Session 7 – Meeting the Diagnostic Challenge
Moderators - Dietrich Matern, Mayo Clinic College of Medicine and Michael Watson, American College of Medical Genetics
Screening for Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome in Newborns Using Blood Spot Ornithine Levels by Tandem Mass Spectrometry.
Denis Lehotay, Saskatchewan Disease Control Laboratory
Simultaneous Detection of HIV, Hepatitis C Antibodies and Hepatitis B Antigen in Dried Blood Spots Using the X-Map Technology
Zoltan Lukacs, Hamburg University Medical Center
Newborn Hearing Screening: Congenital Cytomegalovirus Detection in Newborn Blood Spots by Real-time PCR
Yeon Choi, University of Minnesota
Detection of GJB2 35delG Hearing Loss Associated Variant in Infants Who Do Not Pass Newborn Hearing Screening
Lisa Ann Schimmenti, University of Minnesota
Session 8 – Ethical/Social/Legal Solutions
Moderators - Brad Therrell, National Newborn Screening and Genetics Resource Center and Donald Chace, Pediatrix Analytical
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children
R. Rodney Howell, National Institutes of Health
Expanded Newborn Screening: Parents' Perspectives on Genetic Diagnosis
Rachel Grob, Sarah Lawrence College
Implementing Section 504 Plans for Students with Sickle Cell Disease to Address Neurocognitive Impairments and Educational Delays
Christine Jones, Minnesota Department of Health
Parents' Perspectives on Access to Medical Foods and Formula
Jill Levy-Fisch, Save Babies Through Screening Foundation
Thursday, May 10, 2007
Session 9 – Late Breaking Topics I
Moderators - Gerard Loeber, RIVM and James Hanson, National Institutes of Health
Thyroxin Analysis Using MS/MS
Donald Chace, Pediatric Analytical
Two-Tier CK and CKMB Assay for Duchenne Muscular Dystrophy in Dried Blood Spots by Fluorometry
Marlinda Sardovia-Iyer, Ohio Department of Health
A Multiplex LSD Enzyme Assay: From Research to Newborn Screening
Kate Zhang, Genzyme Corporation
Session 10 – Late Breaking Topics II
Moderators - Joanne Mei, Centers for Disease Control and Prevention and Ken Pass, Wadsworth Center
Workshop Report: Newborn Screening for SCID
Robert Vogt, Centers for Disease Control and Prevention
The Use of Newborn Blood Spots in Environmental Research: Opportunities and Challenges
Joanne Mei, Centers for Disease Control and Prevention
CLSI Document: Blood Collection on Filter Paper for Neonatal Screening Programs, Approved Standard
Harry Hannon, Centers for Disease Control and Prevention
NIH Data Sharing Policy for Genome-wide Association Studies (GWAS)
Steven Hirschfeld, National Institutes of Health
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