Full Schedule

Genomic testing is now a routine component of pediatric care. From selecting the appropriate patient for testing to integrating findings into clinical care, all pediatric providers require competency in genomic medicine. Using an interactive, case-based, small-group approach, faculty will review introductory principles related to selection of testing and the interpretation and communication of results. The workshop includes practical hands-on instruction with the use of online genomic tools and databases that participants may find particularly useful in their daily practice.

The design of this workshop is based on an interactive team-based learning (TBL) model developed by the Training Residents in Genomics (TRIG) Working Group for pathology residents, that has since been adapted for oncologists, cardiologists, neurologists and medical students. A project group focused on rare genetic diseases, made up of pediatricians, geneticists, genetic counselors, and pathologists of the National Human Genome Research Institute (NHGRI) Intersociety Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) has adapted these exercises for pediatricians for delivery through a virtual model. The goal of the project group is to educate healthcare professionals on available resources to address the challenges of rare genetic diseases, such as limited genomic testing options, diagnostic delays, and educational barriers.

The workshop will consist of brief lectures to provide the foundation for small break out groups where participants will collaboratively work through an interactive case. It will consist of a case vignette and a series of questions to facilitate critical thinking around the genetic testing process, from test selection through communication of results and incorporation into clinical care. During small-group discussions, facilitators will be available for questions. A final large group discussion will provide an opportunity to review cases and address broad genomics questions.

Cases will familiarize participants with multiple genomic technologies including microarrays, next generation sequencing (NGS) gene panels and whole exome and genome sequencing as well as the use of commonly utilized resources such as MedlinePlus Genetics, GeneReviews, ClinGen and ClinVar. There is a focus on practical applications with the objective of having participants leave the workshop with knowledge and skills that can be directly applied in their clinical practices.