Jessica Zambonin

MD

Investigator and Clinical Geneticist, BC Children's Hospital

I'm a clinical geneticist and researcher based at BC Children’s Hospital with a focus on prenatal diagnosis for fetuses with structural anomalies. My work centers on the clinical implementation and impact of genome-wide sequencing, particularly exome sequencing, in the prenatal setting. I’m building a research program that explores the diagnostic yield, clinical utility, and follow-up practices for prenatal exome sequencing with a goal to generate real-world evidence on the long-term impact of prenatal testing to inform clinical pathways, reanalysis practices, and policy decisions across prenatal and pediatric care.

Additionally, as a clinical geneticist, I am interested in the identification and characterization of rare genetic conditions to improve patient care.