Newborn Screening in the Genomic Era: Setting a Research Agenda

Registration

Welcome from Institute Directors and Introductions
Alan Guttmacher, M.D.
NICHD Director, NIH

Eric Green, M.D., Ph.D.
NHGRI Director, NIH

Introduction to Newborn Screening
Piero Rinaldo, M.D., Ph.D.
Mayo Clinic

Predicting the Future: From Biochemistry to Sequence
David Valle, M.D.
Johns Hopkins University School of Medicine

How Genetic Testing Prior to Birth Relates to Newborn Screening
Art Beaudet, M.D.
Baylor College of Medicine

R. Rodney Howell, M.D., F.A.A.P., FACMG
NICHD, NIH

Break

Thinking Outside the Box: Potential Technological Contenders for Use in Newborn Screening
Jeff Schloss, Ph.D. (Chair) (PDF - 80 KB)
NHGRI, NIH

Targeted Sequencing and New Technologies
Ron Davis, Ph.D.
Stanford Genome Technology Center

Fitting Current Technologies for Newborn Screening
Richard Gibbs, Ph.D.
Baylor College of Medicine

Jeff Schloss, Ph.D.
NHGRI, NIH

Jeff Schloss, Ph.D. (Chair)
NHGRI, NIH

Digital Microfluidic Lab-on-a-chip for Multiplexing Tests in Newborn Screening
Vamsee Pamula, Ph.D.
Advanced Liquid Logic, Inc.

TR-FRET-based End-point PCR Utilizing Dried Blood Disc as a Sample Matrix
Petri Huhtinen  (PDF - 69 KB)
PerkinElmer, Inc.

Targeted Genetic Screens Using Bead-based Multiplexed Molecular Assays
Keld Sorensen, Ph.D. (PDF - 77 KB)
Luminex Corporation

Nanopore-based DNA and Protein Analysis
Andre Marziali, Ph.D.
University of British Columbia

Challenges of New Technologies in the Ethical, Legal, and Social Contexts
Alan Fleischman, M.D. (Chair) (PDF - 102 KB)
March of Dimes Foundation

The Danish Newborn Screening Biobank: Establishment and Use
Bent Nørgaard-Pedersen, M.D., D.M.Sc. (PDF - 81 KB)
Statens Serum Institut, Copenhagen

Developing New Tests and Expansion: Legal, Social, and Ethical Issues
Fred Lorey, Ph.D. (PDF - 71 KB)
California Department of Public Health

Parental Engagement in Newborn Screening Technology
Jeff Botkin, M.D.
University of Utah School of Medicine

Discussion
Alan Fleischman, M.D.
March of Dimes Foundation

Charge to Breakout Groups
David Valle, M.D.
Johns Hopkins University School of Medicine
and
Piero Rinaldo, M.D., Ph.D.
Mayo Clinic

Break

Breakout Groups

Breakout Group I – Technology
(Performance, specificity, sensitivity, cost, validation, bioinformatics, samples)
Co-chairs: David Goldstein, Ph.D.
Duke University School of Medicine
and
David Ledbetter, Ph.D.
Geisinger Health System

Breakout Group II – Education/Expectations
(Healthcare providers, general public, researchers, return of results)
Co-chairs: Bruce Korf, M.D., Ph.D.
University of Alabama at Birmingham School of Medicine
and
Jeff Murray, M.D.
University of Iowa

Breakout Group III – Scope and Timing
(What to screen for, when to screen for it)
Co-chairs: Geoff Duyk, M.D., Ph.D.
TPG Biotech, Inc.
and
Richard Weinshilboum, M.D., Ph.D.
Mayo Clinic

Wrap up Day 1
David Valle, M.D.
Johns Hopkins University School of Medicine
and
Piero Rinaldo, M.D., Ph.D.
Mayo Clinic

Adjourn

Registration

Presentations from Breakout Groups
Co-moderators: Susan Berry, M.D.
University of Minnesota Medical School
and
Pearl O’Rourke, M.D.  (PDF - 77 KB)
Partners HealthCare Systems

Breakout Group I
Breakout Group II
Breakout Group III

Break

Open Discussion: What Pieces of the Puzzle Are Missing?
Co-moderators: Susan Berry, M.D.
University of Minnesota Medical School
and
Pearl O’Rourke, M.D.
Partners HealthCare Systems

Wrap-up Discussion: Priorities for Moving the Field Forward
Co-moderators: Michele Lloyd-Puryear, M.D., Ph.D. (PDF - 69 KB)
Health Resources and Services Administration
and
Wendy Chung, M.D., Ph.D.
Columbia University Medical Center

Closing Comments
Alan Guttmacher, M.D.
NICHD, NIH

Eric Green, M.D., Ph.D.
NHGRI, NIH 

Adjourn