Children’s Hospital
Genomics Roundtable

APRIL 13, 2021

Due to the rare occurrence of rare diseases and pediatric cancers, many of their biological details remain unclear. As a result, critical genetic links continue to go unrecognized due to a limited understanding of how certain inherited variants may impact the pathogenesis and progression of rare disease and cancer in children. This information gap not only presents challenges for patient education, but also for diagnosis and treatment plans.

Understanding the hereditary factors underlying rare disease and pediatric cancer equips patients and their families with information that is both educational and actionable. For instance, awareness of a predisposition allows patients to seek appropriate screening and prevention measures, as well as explore conversations surrounding family planning. Most importantly, these insights may aid in selecting the most effective treatment options.

In this roundtable discussion, experienced laboratory directors and clinicians will gather from a variety of institutions leading the charge in pediatric genomics research, including St. Jude Children’s Research Hospital, Children’s Hospital of Colorado, Nationwide Children’s Hospital, and Memorial Sloan Kettering Cancer Center.

Armed with a diverse breadth and depth of expertise in research and clinical diagnostics as well as genetic counseling and clinical care, speakers will share their perspectives on recent developments and current practices within the realm of clinical and research genomics. Additionally, they will describe how artificial intelligence and AI-based tools, including Genomenon’s Mastermind Genomic Search Engine, are streamlining patient care and forwarding the collective effort to advance genomic discovery for rare diseases and cancer in children.

Learning Objectives:

  • Describe key initiatives at selected Children’s and Research hospitals aimed at advancing rare disease diagnosis and care
  • Understand how genomics is influencing the approach to treatment and management in pediatric rare disease and cancer
  • Discuss the role of artificial intelligence technology to optimize diagnosis and healthcare delivery for those with rare disease and pediatric cancer


Amy Treece, MD
Pediatric and Molecular Pathologist, Medical Director of the Precision Diagnostics Laboratory
Children’s Hospital Colorado

Alisa Gaskell, PhD
Co-chair and Scientific Director of Precision Medicine
Children’s Hospital Colorado

Elise Fiala, MS, CGC
Senior Genetic Counselor
Memorial Sloan Kettering Cancer Center

Michael Walsh, MD
Geneticist & Pediatric Oncologist
Memorial Sloan Kettering Cancer Center

Roshini Sarah Abraham, PhD
Professor, Clinical Pathology, Founding Director, Diagnostic Immunology Laboratory, Associate Chief, Academic Affairs
Nationwide Children’s Hospital

Elizabeth Varga, MS, LGC
Director of Clinical Genomics Research and Development Steve and Cindy Rasmussen Institute for Genomic Medicine
Nationwide Children’s Hospital

Kim Nichols, MD
Director of Cancer Predisposition Program
St. Jude Children’s Research Hospital

Jamie Maciaszek, PhD
Clinical Variant Scientist, Department of Pathology
St. Jude Children’s Research Hospital