Implementing Clinical Whole Exome Sequencing for the Care of Children with Mendelian Disorders and Cancer


Whole exome sequencing (WES) is utilized for the clinical care of children with Mendelian disorders and cancer. This presentation reviews experiences and current implementation of WES across clinical contexts including the newborn ICU and pediatric oncology.

Originally published on June 6, 2018

Lecture Presenter

Sharon E. Plon, MD, PhD, FACMG

Sharon E. Plon, MD, PhD, FACMG

Departments of Pediatrics/Hematology-Oncology and Molecular and Human Genetics, Human Genome Sequencing Center, Baylor College of Medicine

Dr. Sharon Plon is a diplomat of the American Board of Medical Genetics and Genomics. She received her MD and PhD (Biophysics) from the Medical Scientist Training Program at Harvard University and completed her medical genetics training at the University of Washington. Dr. Plon has been a faculty member of Baylor College of Medicine and Texas Children’s Hospital for 25 years. She is now Professor in the Departments of Pediatrics/Hematology-Oncology, Molecular and Human Genetics and Human Genome Sequencing Center. She is Director of the Cancer Genetics and Genomics Program at Texas Children’s Hospital (TCH). Dr. Plon serves on the National Advisory Council for Human Genome Research of the NIH and is a member of the Board of Directors of the American Society of Human Genetics.

Dr. Plon’s translational research has focused on analysis of patients with inherited susceptibility to childhood cancer. Dr. Plon co-chaired the international IARC committee which made recommendations for appropriate classification and clinical reporting of genetic variants in cancer susceptibility genes. Dr. Plon is a principal investigator one of the NHGRI/NCI clinical sequencing evidence generation research (CSER2) projects at BCM. In 2013, Dr. Plon was name co-Principal investigator of an NHGRI U01 and now U41 grant to support the development of a comprehensive Clinical Genomics (ClinGen) Resource. She also co-chairs the germline reporting committee of the Children’s Oncology Group/NCI Pediatric MATCH national precision oncology trial which opened in August 2017.


After this presentation, participants will be able to:

  • Describe the diagnostic rates of WES across different clinical contexts and test strategies utilized for the clinical care of children
  • Identify the distribution of mutation types identified by WES in children with neurodevelopmental disorders and in childhood tumors
  • Explain the appropriate utilization of germline WES, variant classification and reporting in pediatric cancer testing
  • Describe a study on using WES for pediatric cancers.

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories