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Newborn Screening in the Genomic Era: Setting a Research Agenda

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December 13-14, 2010

Agenda

Monday, December 13, 2010


8:00 a.m.

Registration

8:30 a.m.

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

Eric Green, M.D., Ph.D. External Web Site Policy
NHGRI Director, NIH

8:50 a.m.

Introduction to Newborn Screening
Piero Rinaldo, M.D., Ph.D. External Web Site Policy
Mayo Clinic

9:10 a.m.

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

9:30 a.m.

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

9:50 a.m. - Discussion

R. Rodney Howell, M.D., F.A.A.P., FACMG External Web Site Policy
NICHD, NIH

10:20 a.m.

Break

10:30 a.m.

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. External Web Site Policy
Stanford Genome Technology Center

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

9:50 a.m. - Discussion

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 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. External Web Site Policy
University of British Columbia

1:30 p.m.

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. External Web Site Policy
University of Utah School of Medicine

2:30 p.m.

 

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

3:00 p.m.

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

3:05 p.m.

Break

3:15 p.m.

Breakout Groups

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

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

5:15 p.m.

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

5:30 p.m.

Adjourn

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Tuesday, December 14, 2010


8:00 a.m.

Registration

8:30 a.m.

Presentations from Breakout Groups
Co-moderators: Susan Berry, M.D. External Web Site Policy
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

10:00 a.m.

Break

10:15 a.m.

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

11:00 a.m.

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. External Web Site Policy
Columbia University Medical Center

11:45 a.m.

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

Eric Green, M.D., Ph.D.
NHGRI, NIH 

12:00 p.m.

Adjourn

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Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
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