For You, By You: An Update on CSLI Products for Newborn Screening Programs
Amy Gaviglio, MS, CGC, G2S/CDC/APHL
The Newborn Screening Quality Assurance Program Participant Portal: Modernization and Improvements for Proficiency Testing and Quality Control Results and Evaluations
Joanne Mei, PhD, Centers for Disease Control and Prevention
Day 5 - Monday, November 2
This session will explore the challenges that Congenital Cytomegalovirus (cCMV) poses to the newborn screening system and summarize ways to educate healthcare providers and the public on the importance of early detection and treatment of cCMV.
Moderators:
- Kimberly Noble Piper, BSN, RN, CPH, CPHG, Iowa Department of Public Health
- Carrie Wolf, MBS, Minnesota Department of Health
Presentations:
Panel:
Congenital Cytomegalovirus Universal Newborn Screening
Planning and Implementation Challenges of Including Congenital Cytomegalovirus in Universal Newborn Screening
Lisa Gehtland, MD, RTI International
Universal Screening for Permanent Hearing Loss Risk Factors: Policy Considerations Leading to Implementation in Ontario
Pranesh Chakraborty, MD, FRCPC, FCCMG, Newborn Screening Ontario
Universal Newborn Screening for Congenital Cytomegalovirus and Genetic Variants Associated with Permanent Hearing Loss: Preliminary Findings from Initial 5 Months of Screening in Ontario, Canada
Lauren Gallagher, MS, Newborn Screening Ontario
Improvements in the Analytic Sensitivity of Dried Blood Spot (DBS) PCR for the Diagnosis of Congenital Cytomegalovirus (cCMV) Infection: Results from a Minnesota Universal Screening Study
Mark Schleiss, MD, University of Minnesota Medical School
Education of Providers and Parents on the Prevention, Detection and Treatment of Congenital Cytomegalovirus
Marcia Fort, AuD, CCC-A, North Carolina Division of Public Health
Moderators:
- Beth Tarini, MD, Children’s National Hospital
- Sikha Singh, MHS, PMP, Association of Public Health Laboratories
Presentations:
The Value of Cognitive Testing of a NBS Survey: Revealing Blind Spots and Improving Validity
Norma-Jean Simon, MPH, Children’s National Hospital
Panel:
Partnering with NBS Programs to Conduct Health Services Research: Programmatic Considerations, Research Regulations, and Study Design
Building Study Partnerships with NBS Programs: Key Considerations for Successful Collaborations
Amy Gaviglio, MS, CGC, G2S/CDC/APHL
How to Successfully Navigate Research Regulatory Requirements When Conducting NBS Health Services Research
Anne Atkins, MPH, Children’s National Hospital
How to Successfully Navigate Research Regulatory Requirements When Conducting NBS Health Services Research
Anne Atkins, MPH, Children’s National Hospital
Integrating Professional and Public Input into Health Services Research Study Design: Challenges and Lessons Learned
Brianne Miller, MPH, Children’s National Hospital
Day 6 - Wednesday, November 4
11:00 am - 12:30 pm ET |
Follow-up
This session critiques follow-up practices within newborn screening, presents the results of a survey sent to assess primary care physician’s use of high immunoreactive trypsinogen (IRT) notifications and the outcomes of testing for Adrenoleukodystrophy (ALD), Pompe and MPS I in various states.
Moderators:
- Sarah Bradley, MS, CGC, New York State Department of Health
- Jennifer Macdonald, BSN, RN, MPH, Virginia Department of Health
Presentations:
Making the Case for Newborn Screening Follow-up Guidelines
Carol Johnson, University of Iowa Hospitals & Clinics
Assessing Primary Care Physician’s Use of the High Immunoreactive Trypsinogen Letter
Isabel Hurden, MPH, Michigan Department of Health and Human Services
Implementation of Pompe and MPS-I in Virginia: One-Year Review
Christen Crews, MSN, RN, Virginia Department of Health
Outcomes of Newborn Screening for Adrenoleukodystrophy in New York State
Beth Vogel, MS, CGC, New York State Department of Health
Facilitating Rare Genetic Disease Research: Methods for CDE Development to Support the Longitudinal Follow-up of Individuals Diagnosed Through Newborn Screening
Mike Hartnett, American College of Medical Genetics and Genomics
This session examines newborn screening systems with an international lens: the results of tests performed in Canada on babies in low-resource settings, the implementation of Severe Combined Immunodeficiency (SCID) screening in Denmark and changes made to screening for Cystic Fibrosis (CF) in the Netherlands, among others.
Moderators:
- James Bonham, MSc, PhD, CSci, FRCPath, UK Newborn Screening
- Joanne Mei, PhD, Centers for Disease Control and Prevention
Presentations:
Reporting of Newborn Screening Results to International, Low-resource Settings from Canada
Monica Lamoureux, MS, Newborn Screening Ontario
Implementation of SCID Screening in Denmark
Marie Baekvad-Hansen, MS, Statens Serum Institut
Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-phosphate
Arieh Cohen, PhD, Statens Serum Institut
Reduced Sensitivity for Congenital Hypothyroidism Screening in the NICU: A Question of Case Definition?
Graham Sinclair, PhD, British Columbia Newborn Screening Program
Evaluation of Changes Implemented in 2016 in Cystic Fibrosis Newborn Screening Protocol in the Netherlands
Marelle Bouva, MS, The Netherlands Newborn Screening Laboratory
3:30 pm - 4:30 pm ET | Roundtables
Harmonization Needs in Newborn Screening Programs: From Lab to Follow-up
As newborn screening is state-based, a number of discrepancies exist in pre-analytical, analytical, and post-analytical processes andoutcomes. This roundtable serves as a launching point for discussion on how we can harmonize practices, especially analyte results.
Speaker: Amy Gaviglio, MS, CGC, G2S/CDC/APHL
Online Training for Communicating Initial Newborn Screening Results
This roundtable focuses on the practical application of newborn screening results communication training in states and health systems. Attendees will have the opportunity to view the training, hear data from preliminary testing, and provide feedback on the format and content. Attendees will leave with an understanding of where to find the training and what content the training covers.
Speaker: Natasha Bonhomme, Chief Strategy Officer at Genetic Alliance
Day 7 - Tuesday, November 10
This session explores what the future of pilot studies might look like in the United States, examines the challenges of conducting population based screening and recruiting for newborn screening pilot studies, and discusses the benefits and risks of conducting such studies.
Moderators:
- Joseph Orsini, PhD, New York State Department of Health
- Mei Baker, MD, FACMG, Wisconsin State Laboratory of Hygiene
Presentations:
Bioinformatics: The Next Newborn Screening Frontier
Samantha Marcellus, MPH, Texas Department of State Health Services
Correlation Analysis for CAH Screening: Identification of Additional Variables for Improved Risk Assessment
Alankar Kampoowale, MS, State Hygienic Laboratory at the University of Iowa
Electronic Data Exchange: Needs and Solutions for Public Health Laboratories
Frank Delin, State Hygienic Laboratory at the University of Iowa
Day 8 - Thursday, November 12
This session will critique the healthcare cost burden of newborn screening on states and present solutions to communicating with families about research consent. There will also be a discussion on how genome sequencing can impact clinical and family decision-making.
Moderators:
- Kimberly Noble Piper, RN, BSN, CPH, CPHG, Iowa Department of Public Health
- Aaron Goldenberg, PhD, MA, MPH, Department of Bioethics & Medical Humanities, Case Western Reserve University School of Medicine
Presentations:
Newborn Screening and Genomics: Ethics Resources and Tools to Support Patients, Parents, Public Health Partners, Clinicians and Researchers
Kee Chan, PhD, MBA, American College of Medical Genetics and Genomics
Transitioning from Two Screens to One: Delaware’s Experience
Michael Cellucci, MD, Nemours Al DuPont Hospital for Children
The Michigan BioTrust for Health and Pregnancy Risk Assessment Monitoring System (PRAMS) Linkage: Associations Between Consent Decisions and Knowledge of the Michigan BioTrust, 2012–2015
Shelby Atkinson, MPH, Michigan Department of Health and Human Services
This session covers the use of Hydrophilic Interaction (HILIC) chromotography as well as evaluates the effectivness of using a second-tier assay and principal component analysis for identifying newborns at risk for Congenital Adrenal Hyperplasia (CAH).