Genomics Summit

Genomics Summit: Practical Genomics for Practicing Clinicians

Friday, September 21, 2018
1:00-6:00 PM

We are pleased to announce our first ever Genomics Summit, offered in collaboration with the Rady Children’s Institute for Genomic Medicine. Learn from Dr. Stephen Kingsmore and others about how rapid Whole Genome Sequencing (rWGS) has quickly moved from the “bench” to the bedside, bringing hope to some of the most challenging cases we face in neonatal medicine.

The Summit will help you and your team position your center and/or health system to harness this technology and bring precision medicine to newborns with often unrecognized rare diseases. The expert faculty will provide data and case studies, and discuss the impact of rapid diagnosis on outcomes and the value equation.


Rady Children’s Institute for Genomic Medicine
Stephen F. Kingsmore MD DSc, President/CEO, RCIGM, San Diego, CA.
Jean Carroll MD
Shimul Chowdhury PhD, FACMG
Lisa Salz MS, LCGC
Nathaly Sweeney MD, MPH, FAAP
Family Presenter

Vermont Oxford Network
Jeffrey D. Horbar MD
Roger Soll MD


Welcome! Preparing for the New World of Genomic Medicine
S. Kingsmore / J. Horbar

Time Counts! Clinical Case Study: Medical and Family Perspectives
N. Sweeney
Family Presenter

2:00 – Discussion

The Evidence, Evolving Science and Enhancing Your Genomic IQ
J. Carroll

2:45 – Discussion

3:00 – Break

Bridging the Gap: Creating Learning Networks and Building Local Genomic Capacity
– RCIGM Vision and Model – Not Just a Distant Laboratory
– Practical Logistics
– Power of a Learning Network
– You Tell Us! What Would Serve You?
S. Chowdhury / L. Salz

3:45 – Discussion

The Genomics-Enabled NICU of the Future
– Revolutionary Diagnostics and Data Converge
– Harnessing Artificial Intelligence to Improve Neonatal / Perinatal Care
– Impact on Healthcare Utilization / Workload / and Costs
– The Next Horizon
S. Kingsmore

4:30 – Discussion

Charting Our Future
S. Kingsmore/ J. Horbar

5:00 – Break

Genomics Town Hall – Open to All Annual Quality Congress Participants

5:15-6:00 PM
All Annual Quality Congress  participants are welcome to join this engaging discussion to learn about a new learning network to harness the power of the worldwide neonatology community in service of evidence-based precision medicine for newborn infants.
S. Kingsmore / R. Soll / J. Horbar