The annual Frontiers in Pediatric Genomic Medicine Conference brings together international leaders in the field of pediatric genomics. This year's hybrid event will be hosted in beautiful La Jolla, California. We'll delve into the latest research into the use of rapid Whole Genome Sequencing™ for critically ill infants and children, and explore the promise of genomic sequencing for screening newborns for rare diseases around the world. Frontiers in Pediatric Genomic Medicine 2023

TAKING STEPS TOWARDSending the diagnostic odyssey
Learn about the latest in rapid Whole Genome Sequencing™, Newborn Genomic Sequencing April 19-20, 2023

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Join us in San Diego

We are back in person, and can't wait to see you at Scripps Seaside Forum in La Jolla.

Or Join Us Virtually

Log in using the same vFairs platform we used for our last virtual conference.

Networking

Mingle with international leaders in genomics and healthcare

Virtual Chat

Live chat with other virtual attendees — now integrated throughout the entire conference

Follow For Updates

> @RadyGenomics
> #GenomicFrontiers23
> LinkedIn

Brush Up on Genomics Before You Go

Frontiers registrants receive free access to Genomics 101. The RCIGM Genomics 101 course is designed to provide learners with a foundational knowledge of genomics and genomic medicine at the Rady Children’s Institute for Genomic Medicine.

Registration

$339 (In-Person) / $99 (Virtual)

REGISTER NOW

What Attendees Say

This conference greatly increased confidence in my genomic knowledge.”

Comprehensive and engaging.”

The virtual platform is designed to feel like an in-person conference.”

About the Location

Note: San Diego's varied topography lends itself to micro-climates. Please refer to the Weather Underground  La Jolla Shores local weather station for the most accurate forecast.

Event Venue:

Scripps Seaside Forum

8610 Kennel Way
La Jolla, CA 92037

Parking & Hotel Shuttle Information
Visit the website

Accomodations:

Hilton La Jolla Torrey Pines

10950 N Torrey Pines Road
La Jolla, CA 92037

Book a reduced rate room


Hotel La Jolla

Curio Collection by Hilton
7955 La Jolla Shores Drive
La Jolla, CA 92037
Book a room

Please note: Most of the Hotel La Jolla conference hotel rooms have been booked. You may contact mary.ziomek@evolutionhospitality.com regarding the last few available rooms. 

Hotel La Jolla bookings include: 

  • Use of fitness center & heated swimming pool
  • One complimentary drink certificate per occupant
  • Complimentary use of hotel beach cruiser bicycles
  • Valet-only parking discounted to $29
  • Complimentary WiFi
  • Shuttle service will be provided to and from Hotel La Jolla to Scripps Seaside Forum, the Frontiers conference site.

Agenda

Download printable agenda

MORNING FOCUS: rapid Whole Genome Sequencing™

8:00 am

Registration/Exhibit Hall/Breakfast

9:00 am

Welcome

Charlotte Hobbs, MD, PhD
VP and Chief Research & Clinical Management Officer, Rady Children’s Institute for Genomic Medicine (RCIGM)

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

9:15 am

Genomic Medicine for Ill Neonates and Infants (GEMINI Study)

Kristen Wigby, MD
Assistant Professor of Pediatrics, University of California, San Diego / Physician Investigator, RCIGM

9:45 am

Streamlining Clinical Genetic Testing: The Promise of Long-Read Sequencing

Danny Miller, MD, PhD
Asssistant Professor of Pediatrics & Genome Sciences, University of Washington School of Medicine

10:15 am

BREAK – Exhibit Hall Open

10:45 am

Infant Mortality Associated with Monogenic Disorders

Liana Protopsaltis , MS, CGC
Research & Project Manager, RCIGM

11:15 am

Family Panel

Moderator: Jerica Lenberg, MS, CGC
Licensed Clinical Genetic Counselor, RCIGM

Patient families

Noon

Lunch & Networking

AFTERNOON FOCUS: Newborn Genomic Screening

1:00 pm

Introduction to Newborn Genomic Screening

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

1:05 pm

Genomics England Newborn Genomes Programme

David Bick, MD, PhD
Principal Clinician, Genomics England

1:40 pm

Panel: Genome Sequencing in Newborns: A Public Health Perspective

Laurie Smith, MD, PhD
Consultant

Gunter Scharer, MD
Chief Medical Officer, RPRD Diagnostics

Jennifer Schleit, PhD, FACMG
Laboratory Director, RCIGM

Moderator: Mei Baker, MD, FACMG
Professor of Pediatrics, University of Wisconsin-Madison / Newborn Screening Laboratory Director, Wisconsin State Laboratory of Hygiene

2:15 pm

BREAK – Exhibit Hall Open

2:45 pm

The Path to Universal Newborn Sequencing

Robert Green, MD, MPH
Professor of Medicine (Genetics), Harvard Medical School and Mass General Brigham / Director, G2P (Genomes to People)

3:15 pm

Challenges and Opportunities in Screening Newborns and Young Children for Complex Conditions using Genetic Risk Scores

Holly Peay, PhD, MS, CGC
Early Check / Senior Research Scientist, RTI International

4:30 – 7:00 pm

Reception/Networking

Heavy hors d'oeuvres and cocktails

MORNING FOCUS: Newborn Genomic Screening

7:30 am

Registration/Exhibit Hall/Breakfast

8:00 am

Welcome

Charlotte Hobbs, MD, PhD
VP and Chief Research & Clinical Management Officer, RCIGM

8:05 am

Screen4Care EU-IMI Project: Accelerating Rare Disease Diagnosis by Genetic Newborn Screening and Digital Technology

Alessandra Ferlini
Professor & Head of the Medical Genetics Unit, University of Ferrara / Project Scientific Coordinator, Screen4Care

Nicolas Garnier, PhD
Head of Patient Advocacy, Pfizer / EFPIA Lead, Screen4Care

8:40 am

Newborn Genomic Screening in Greece

Petros Tsipouras, MD
Scientific Director, First Steps Greece / CEO, PlumCare

9:15 am

The BeginNGS Perspective

Tom DeFay, PhD
Deputy Chair, BeginNGS Consortium / Deputy Head Diagnostics Strategy & Development, Alexion

9:50 am

Panel: Newborn Genomic Screening Programs Across the Globe

David Bick, MD, PhD
Principal Clinician, Genomics England

Alessandra Ferlini
Head of the Medical Genetics Unit, Professor in Medical Genetics, University of Ferrara / Project Scientific Coordinator, Screen4Care

Nicolas Garnier, PhD
EFPIA Lead, Screen4Care / Head of Patient Advocacy, Pfizer

Holly Peay, PhD, MS, CGC
Early Check / Senior Research Scientist, RTI International

Robert Green, MD, MPH
Director, G2P (Genomes to People)

Petros Tsipouras, MD
CEO, PlumCare / Scientific Director, First Steps Greece

Moderator: Tom DeFay, PhD
Deputy Chair, BeginNGS Consortium / Deputy Head Diagnostics Strategy & Development, Alexion

10:30 am

BREAK – Exhibit Hall Open

11:00 am

Unraveling the Diagnosis of ENPP1 Deficiency

Catherine Nester, RN, BSN
Vice President, Physician & Patient Strategies, Inozyme Pharma

11:30 am

Panel: Addressing the Diagnostic Odyssey Through Pharma Participation in NBS-by-WGS programs

Catherine Nester, RN, BSN
Vice President, Physician & Patient Strategies, Inozyme Pharma

Charlotte Chanson, MSc
Senior Director, Global Diagnostics/Newborn Screening, Orchard Therapeutics

Steve Rodems, PhD
Vice President, Research, Travere Therapeutics

Tom DeFay, PhD
Deputy Head Diagnostics Strategy & Development, Alexion / Deputy Chair, BeginNGS Consortium

Nicole Miller, PhD
VP, Molecular Diagnostics, Ultragenyx

Moderator: Walter Kowtoniuk, PhD
Venture Partner, Third Rock Ventures

12:10 pm

Lunch & Networking

AFTERNOON FOCUS: Diagnostic rWGS®, Effectiveness & Reimbursement

1:10 pm

Welcome Back

Charlotte Hobbs, MD, PhD
VP and Chief Research & Clinical Management Officer, RCIGM

1:15 pm

Lightning Talks


DNA Methylation Detection Using PacBio Sequencing

Matthew Bainbridge, PhD
Assistant Director of Translational Research, RCIGM


Improving Outcomes of Critical Congenital Heart Disease Through Genome-Informed Management

Nathaly Sweeney, MD, MPh, MS
Assistant Clinical Professor of Pediatrics, University of California, San Diego / Physician Investigator, RCIGM


Pediatric Genomic Psychiatry: Precision Medicine For Youth Mental Health

Aaron Besterman, MD
Assistant Clinical Professor of Psychiatry, University of California, San Diego / Physician Investigator, RCIGM

1:45 pm

Next-Generation Advocacy Driving Forward Collaborative Progress in Rare Disease

Charlene Son Rigby , MBA
CEO, Global Genes

2:15 pm

Bears, Manatees, and Deer, Oh My! – Michigan’s Implementation of rWGS Affirms Strong Clinical and Economic Utility

Caleb Bupp, MD FACMG
Assistant Clinical Professor of Pediatrics and Human Development, Michigan State University / Geneticist, Division Chief, Corewell Health & Helen DeVos Children's Hospital

2:30 pm

Economic Utility of First Line rWGS in Commercial Payor Model Empowers Coverage and Implementation

Christy Moore, MS, CGC
Genetics Program Manager, Blue Shield of California

3:15 pm

BREAK – Exhibit Hall Open

3:35 pm

Panel: rWGS — Michigan's Journey to Coverage and Implementation

Andrea Scheurer-Monaghan, MD
Clinical Assistant Professor of Pediatrics, Western Michigan University / Neonatologist, Southwestern Michigan Neonatology, P.C.

Laura Appel
Executive VP, Michigan Health & Hospital Association

David Dimmock, MD
Staff Physician, Valley Children’s Hospital

Moderator: Caleb Bupp, MD FACMG
Assistant Clinical Professor of Pediatrics and Human Development, Michigan State University / Geneticist, Division Chief, Corewell Health & Helen DeVos Children's Hospital

4:15 – 4:30 pm

Closing Discussion

Drs. Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

Charlotte Hobbs, MD, PhD
VP and Chief Research & Clinical Management Officer, RCIGM

Frequently Asked Questions

Add Settings
Frontiers in Pediatric Genomic Medicine is a hybrid event taking place in-person at Scripps Seaside Forum in La Jolla, CA and simultaneously streamed live via the interactive vFairs platform.

For guests attending online, you can participate from anywhere with internet access. You will be able to network with both online and in-person attendees via vFairs.

All registrants will have access to the event via the web browser-based platform and the mobile app. The archived program will be available to all attendees until Friday, June 16, 2023 on the same vFairs platform.

The vFairs website and mobile app tools have many resources for in-person attendees such as the ability to download the speakers’ handouts from the auditorium and the access to watch the recordings after the conference is complete.
Yes, you will need to register here by noon on Wednesday, April 12, 2023 to attend the in-person or online event, and to access the recordings.
Click here to request access to the Pre-Conference.
Yes, you may log in from any internet-enabled device. The recommended browser is Chrome; Safari, Firefox, or Edge will also work.
Your login details will be sent to you ahead of the event at the email address you provide during registration.
The presentations will be recorded and available after the live events conclude until June 16, 2023. To receive access to the online recordings, you must register for the event by Wednesday, April 12, 2023. You will be emailed a link to access the recorded sessions.
Technical support is available by visiting the help desk from the virtual lobby in vFairs. When you click on the help desk, you will see a sign that says “Click here for Technical Support.” That initiates a chat with the help desk which is staffed by a vFairs rep for technical support.

Exhibitors

TITLE
Illumina
GOLD
Illumina
SILVER
Illumina
Illumina
NON-PROFITS
Fabric Genomics
Fabric Genomics