Pediatric genetics

You’ll be assigned to work with a pediatric geneticist for morning and afternoon clinics at Geisinger Janet Weis Children's Hospital. Occasionally, you may be placed with a genetic counselor. If you have an interest in spending a day with prenatal or cancer genetics, we can arrange that. You may also participate with inpatient consults.

Goals and objectives

• By the end of the rotation you’ll become familiar with these key concepts: 
• Karyotype and large chromosomal concerns
• Microarrays – microdeletion and microduplication syndromes
• Exome sequencing 
• Intro to metabolic workup
• Newborn screening at a federal and state level
• Methylation abnormalities
• Variant interpretation and understanding genetic lab reports
• Common syndromes and review of photos/dysmorphology
• Pedigree drawing and analysis