December 13-14, 2010
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
9:50 a.m. - Discussion
R. Rodney Howell, M.D., F.A.A.P., FACMG NICHD, NIH
Thinking Outside the Box: Potential Technological Contenders for Use in Newborn Screening
Jeff Schloss, Ph.D. (Chair) (PDF - 80 KB)
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
11:50 a.m. - Working Lunch — Technology Talks
Jeff Schloss, Ph.D. (Chair)NHGRI, NIH
Digital Microfluidic Lab-on-a-chip for Multiplexing Tests in Newborn ScreeningVamsee 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 UseBent 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 HealthParental 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 MedicineandPiero Rinaldo, M.D., Ph.D.Mayo Clinic
Breakout Group I – Technology (Performance, specificity, sensitivity, cost, validation, bioinformatics, samples)
Co-chairs: David Goldstein, Ph.D. Duke University School of Medicineand
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 Medicineand
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.
Wrap up Day 1 David Valle, M.D. Johns Hopkins University School of MedicineandPiero Rinaldo, M.D., Ph.D.Mayo Clinic
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Presentations from Breakout Groups
Co-moderators: Susan Berry, M.D.
University of Minnesota Medical SchoolandPearl O’Rourke, M.D. (PDF - 77 KB)Partners HealthCare Systems
Breakout Group IBreakout Group IIBreakout Group III
Open Discussion: What Pieces of the Puzzle Are Missing? Co-moderators: Susan Berry, M.D.University of Minnesota Medical SchoolandPearl 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 Administrationand
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
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