The 2011 Newborn Screening and Genetic Testing Symposium, held in San Diego, CA, November 7-10, 2011, brought together over 450 laboratorians, follow-up professionals and newborn screening systems personnel from all 50 states and 17 countries.

The symposium featured workshops on Quality Assurance/Quality Control in Newborn Screening and Short-term and Long-term Follow-up. Sessions examined Health Information Technology, Quality Improvement, International Perspectives, Candidate Conditions, Financial, Ethical, Legal and Social Issues, Emerging Laboratory Technology, Challenges in Newborn Screening and Severe Combined Immunodeficiency.

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Monday, November 7, 2011

QA/QC in Newborn Screening Workshop

MS/MS

Moderators – Patricia Hunt, Texas Department of State Health Services and Art Hagar, Georgia Public Health Laboratory

Trials and Tribulations of Proficiency Testing for Malonylcarnitine (C3DC) in  Dried Blood Spot
- Victor De Jesus, Centers for Disease Control and Prevention

Short and Long Term Stability of 3-Hydroxyacylcarnitines Enriched Dried Blood Spots Stored at Various Temperatures and Humidities
- Timothy Lim, Centers for Disease Control and Prevention

Addressing the C3DC and C0 (FC) Issues with the PE Non-derivatized MSMS Kit
- Fred Lorey, California Department of Public Health

Between Method/Laboratory MSMS Analyte Harmonization Using CDC Quality Control Materials
- Mary Seeterlin, Michigan Department of Community Health

Direct Analysis of Acylcarnitines and Amino Acids in Dried Blood Spots Without Punching or Derivatization Using an Autosampler
- David Millington, Duke University

Cystic Fibrosis

Moderators – Daniel Wright, Colorado Department of Public Health and Environment and Gary Hoffman, Wisconsin State Laboratory of Hygiene

CLSI Guidelines for Cystic Fibrosis Newborn Screening and Challenges with Using IRT as a Biomarker
- Philip Farrell, University of Wisconsin

Method Performance for Measuring Immunoreactive Trypsinogen in Dried Blood Spots
- Joanne Mei, Centers for Disease Control and Prevention

Newborn Screening for Cystic Fibrosis: Three States’ Experience with IRT/IRT/DNA
- Marci Sontag, Colorado School of Public Health

Newborn Screening for Cystic Fibrosis: IRT is Lower in Infants with Meconium Ileus
- Marci Sontag, Colorado School of Public Health

Evaluation of Dried Blood Spot Quality Control Materials for Cystic Fibrosis Molecular Tests
- Marie Earley, Centers for Disease Control and Prevention

Short-term and Long-term Follow-up Workshop

Story of Follow-up

Moderators – Lisa Feuchtbaum, California Department of Public Health and John Thompson,  Washington State Public Health Laboratory

Use of Telehealth in a Comprehensive System of Providing Newborn Screening Hemoglobinopathy Follow-Up in Hawaii
- Sylvia Au, Hawaii Department of Health

Acute Care Utilization and Rehospitalization for Inherited Metabolic Diseases By Children Identified through Newborn Screening
- Ying Wang, New York State Department of Health

Multicenter Validation of Algorithms to Improve Communications of Positive NBS Results to the Medical Home
- Inderneel Sahai, New England Newborn Screening Program

Strategies and Resources to Improve Communication Around NBS Out-of-Range Results: Lessons from Families Who Experienced True- and False-positive Results
- Carol Greene, University of Maryland Medical School

Developing a Newborn Screening Social Work Model of Care: An Opportunity for Early Psychosocial Intervention
- Heather O‘Driscoll, The Hospital for Sick Children

“One Foot at a Time” video

Data Harmonization

Moderators – Sara Copeland, Health Resources and Services Administration and Rebecca Goodwin, National Institutes of Health

Surveillance Case Definitions for Disorders Detected by Dried Blood Spot Newborn Screening
- Cynthia Hinton, Centers for Disease Control and Prevention

Long-Term Follow-Up Data Collection After Newborn Screening: Development of a Consensus Core Data Set
- Susan Berry, University of Minnesota

Identification of Data Set for Newborn Screening Program Assessment
- Amy Brower, American College of Medical Genetics

Healthcare Service Utilization by Children with Metabolic Disorders Diagnosed Through California Newborn Screening
- Lisa Feuchtbaum, California Department of Public Health

MSGRCC Metabolic Newborn Screening Long-term Follow-up Study: The Good, the Bad and the Ugly
- Erica Wright, The Children’s Hospital

Opening Session

Moderator – Fred Lorey, California Department of Public Health – Planning Committee Co-chair

- Paul Kimsey, California State Public Health Laboratory Director
- Catherine Camacho, Deputy Director, Center for Family Health
- Victor Waddell, APHL President
- Susan Tanksley, APHL Newborn Screening and Genetics in Public Health Committee Chair

Keynote Presentation

Newborn Screening for SCID and Related Disorders – It Works!
- Jennifer Puck, University of California, San Francisco

Tuesday, November 8, 2011

Roundtables

Pulse Oximetry to Screen for Critical Congenital Heart Disease: Challenges and Opportunities
- Richard Olney, Center for Disease Control and Prevention

NBS Results Reporting: A National Snapshot in 2010 AND Establishing Greater Certainty for Continuity of Operations Among the Nation’s Newborn Screening Programs
- Phaidra Floyd-Browning, Tulane University and William Perry, National Coordinating Center Emergency Preparedness Workgroup

Session 1 – Health Information Technology

Moderators – Gerard Loeber, Dutch National Institute for Public Health (RIVM) and Mark McCann, Minnesota Public Health Laboratory

Newborn Screening Health Information Exchange: Updated Guidance for Coding and HL7 Electronic Messaging
- Rebecca Goodwin, National Institutes of Health

Kentucky’s Health Information Exchange Start-up Guide for Public Health Laboratories
- William Baker, Kentucky Pision of Laboratory Services

The Development of an Internet Case Management Tool for Improved Short- and Long-term Follow-up
- Beth Vogel, New York State Department of Health

Using LOINC and HL7 to Standardize Hemoglobinopathy Screening Result Reporting
- Swapna Abhyankar, National Institutes of Health

Session 2 – Candidate Conditions

Moderators – Sara Copeland, Health Resources and Services Administration and Julie Neidich, Global Telegenetics

Towards a Newborn Screening Test for Guanidinoacetate Methyltransferase Deficiency
- David Millington, Duke University

Dried  Blood Spot Real-time Polymerase Chain Reaction Assay for Congenital Cytomegalovirus Infection Screening in Newborns
- Mei Baker, Wisconsin State Laboratory of Hygiene

Two Years of High-risk Population Screening for Pompe Disease in Europe – An Alternative to Newborn Screening?
- Zoltan Lukacs, Hamburg University Medical Center

Screening for Three Lysosomal Storage Diseases in a NBS Laboratory and the Potential to Expand to a Nine-plex Assay
- C. Ronald Scott and Michael Gelb, University of Washington

Storing & Using Residual Blood Spots

Moderators – Brad Therrell, National Newborn Screening and Genetics Resource Center and  Leslie Gaffney, California Department of Public Health

Preparing Birthing Hospitals to Implement Parental Consent for the Michigan BioTrust for Health: Challenges and Successes One Year Later
- Kevin Cavanagh, Michigan Department of Community Health

Implementation of NBS Sample Storage in Missouri:  Combining the "Right Thing to Do" with "Doing it Right"
- Patrick Hopkins, Missouri State Public Health Laboratory

Description of the California Research-Ready Biospecimen Bank
- Marty Kharrazi, California Department of Public Health

Awards Ceremony

Moderator – Scott Becker, Association of Public Health Laboratories

- Harry Hannon Laboratory Improvement Award
Recipient – Donald H. Chace, PhD, MSFS, FACB

- George Cunningham Visionary Award
Recipient – Susan R. Panny, MD

- Champion of Newborn Screening Award
Recipient – R. Rodney Howell, MD

Session 3 – Quality Improvement

Moderators – Roger Eaton, New England Newborn Screening Program and Joanne Mei, Centers for Disease Control and Prevention

Newborn Screening Quality Indicators for Inter- and Intra-Program Quality Assurance: A Survey of State Program Personnel Using the NNSIS™
- Brad Therrell, National Newborn Screening and Genetics Resource Center

Reduction in the Newborn Screening False Positive Rate Among Patients in a Neonatal Intensive Care Unit Following Implementation of a New Collection Protocol
- Jose Abdenur, Children’s Hospital of Orange County

The Importance of Knowing the False Negative Rate: Making the Case for Identifying Cases Missed by Newborn Screening
- Marci Sontag, Colorado School of Public Health

Results from Tandem Mass Spectrometry (MS/MS) Ratios Pilot Proficiency Testing Program
- Victor De Jesus, Centers for Disease Control and Prevention

The Impact, Products and Future Applications of the Region 4 Collaborative Project
- Piero Rinaldo, Mayo Clinic College of Medicine

Session 4 – Financial, Ethical, Legal, Social Implications (FELSI)

Moderators – Susan Tanksley, Texas Department of State Health Services and Marty Kharrazi, California Department of Public Health

Developmental Behavioral Pediatricians’ Attitudes About Fragile X Newborn Screening
- Kruti Acharya, University of Chicago Medical Center

New Estimates of the Economic Benefits of Newborn Screening for Congenital Hypothyroidism in the United States
- Scott Grosse, Centers for Disease Control and Prevention

The Hidden Cost of Newborn Screening? A Decade of Declining Public Health Genetics in the United States
- Sylvia Au, Hawaii Department of Health Genetics Program

Challenges Regarding the Development of Future State Policies Related to Newborn Screening Research
- Michelle Lewis, John Hopkins University

Wednesday, November 9

Roundtables

Implementing Health Information Technology for Sending Newborn Screening Orders and Results
- Rebecca Goodwin, National Institutes of Health

Strategies and Resources to Improve Communication Around NBS Out-of-Range Results: Lessons From Families Who Experienced True- and False-positive Results
- Natasha Bonhomme, Genetic Alliance

Session 5 – Emerging Laboratory Technology

Moderators – Michael Glass, Washington State Public Health Laboratory and Carla Cuthbert, Centers for Disease Control and Prevention

The Use of First-tier Newborn Screening Calibrators for Integrated Second-tier MSUD Testing by LC-MS/MS
- Graham Sinclair, University of British Columbia

Development of One Step DNA Extraction from Dried Blood Newborn Screening Specimens
- Mei Baker, Wisconsin State Laboratory of Hygiene

DNA Extraction Efficiency from DBS and Performance on NBS Assays
- Suzanne Cordovado, Centers for Disease Control and Prevention

Newborn Screening Molecular Resources: NBS Molecular Network and CDC’s Molecular Quality Improvement Program
- Suzanne Cordovado, Centers for Disease Control and Prevention

The Newborn Screening Molecular Network Resource Website
- Laura Hancock, Centers for Disease Control and Prevention

Molecular Assessment Program (MAP): A New Tool for Newborn Screening Laboratories to Evaluate Molecular Laboratory Procedures
- Christopher Greene, Centers for Disease Control and Prevention

Session 6 – Follow-up

Moderators – Cheryl Hermerath, Oregon State Public Health Laboratory and Erica Gordon, California Department of Public Health

Optional Reporting of Sickle Cell Disease Carrier Results from Newborn Screening – The Ontario Model
- Christine Davies, Children’s Hospital of Eastern Ontario

The Benefits of Early Treatment of Severe Congenital Hypothyroidism (CH) Prior to Serum Thyroid and Technetium (Tc) Scan Results
- Caroline Nucup-Vilauz, Washington State Public Health Laboratory

Follow-Up of Metabolic Cases for the First Three Years of Life: Results from a Population-Based Multi-State Pilot Project
- Cynthia Hinton, Centers for Disease Control and Prevention

The Long and Short of Newborn Screening for LCHAD: The New England Experience
- Inderneel Sahai, New England Newborn Screening Program

Session 7 – Parent/Patient Panel

Moderators – Fred Lorey, California Department of Public Health and Jill Levy-Fisch, Save Babies Through Screening Foundation

Parents and Adult Patient Panel

- Gina Cousineau
- Judy Janzen and Katie Janzen
- Kelly Jellin
- Cindy and Zachery Wyvill

Unsung Heroes: Role of Families in Driving Science & Health Care: Inside PKU
- John Adams, Canadian PKU and Allied Disorders, Inc.

Session 8 – Challenges in Newborn Screening

Moderators – Julie Luedtke, Nebraska Department of Health and Human Services and Jose Abdenur, Children’s Hospital of Orange County

Implementing Guidelines into Practice: Introducing CLSI Newborn Screening Guidelines into the NICU
- Arthur Yu, Hawaii Department of Health Genetics Program

Complications of Prematurity and Newborn Screening Test Performance
- Kelli Ryckman, University of Iowa Hospitals and Clinics

Detection of TPN Contamination of Dried Blood Spots Used in Newborn and Metabolic Screening and Its Impact on Quantitative Measurement of Amino Acids
- Donald Chace, The Pediatrix Center for Research and Education

Missed Cases of Primary Congenital Hypothyroidism in NICU Babies in California
- Heidi Lerner, California Department of Public Health

PKU Screening: Simple Idea; Complex Realities
- Sheila Weiss, Washington State Public Health Laboratories

Using Policy Analysis to Guide Newborn Screening Decisions: IRT/IRT/DNA Screening for Cystic Fibrosis as a Case Study
- John Thompson, Washington State Public Health Laboratories

Thursday, November 10

Session 9 – International Perspectives

Moderators – Ken Pass, International Society for Neonatal Screening and Jennifer Puck, University of California, San Francisco

Newborn Screening, Quality Performance and Strategies for Improvement in the Middle East
- Jamal Golbahar, Al-Jawhara Centre for Neonatal Screening, Bahrain

Philippine PEAS: Improving Quality in a Developing Newborn Screening Program
- Eva Maria Cutiongco-de la Paz, University of the Philippines, Manila

Neonatal Screening Programs within Europe – Arguments and Efforts Regarding Harmonization
- J. Gerard Loeber, Dutch National Institute for Public Health (RIVM), The Netherlands

Nationwide Screening for Lysosomal Storage Disorders in Austria and Novel Simplified Diagnostic Techniques
- David Kasper, University of Vienna, Austria

Session 10 – Severe Combined Immune Deficiency (SCID)

Moderators – Amy Brower, American College of Medical Genetics and Susan Tanksley, Texas Department of State Health Services

Utilization of the Newborn Screening Translational Research Network (NBSTRN) in a Pilot of  Severe Combined Immune Deficiency (SCID) Newborn Screening
- Amy Brower, American College of Medical Genetics
 
Newborn Screening for Severe Combined Immunodeficiency in Wisconsin: 2008-2011
- Mei Baker, Wisconsin State Laboratory of Hygiene

Evaluation of T-cell Receptor Excision Circles in Premature Newborns: Data from Wisconsin Newborn Screening for Severe Combined Immunodeficiency
- Anne Atkins, Wisconsin State Laboratory of Hygiene

Establishing Quality Assurance Protocols for Low Frequency Events in a High Throughput SCID NBS Laboratory
- Anne Comeau, New England Newborn Screening Program

Establishing Follow-up Protocols for Low Frequency Events in SCID NBS: Working with Specialists New to Newborn Screening
- Anne Comeau, New England Newborn Screening Program

New York's Experience: Summary of the First Six Months of SCID Screening
- Michele Caggana, New York State Department of Health

The Michigan Experience with Screening for Severe Combined Immune Deficiency in Newborns: Preparations and Summary from the First 30 Days
- Kevin Cavanagh, Michigan Department of Community Health

Model Performance Evaluation Survey on T Cell Receptor Excision Circle (TREC) Assay for SCID
- Francis Lee, Centers for Disease Control and Prevention


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