Nancy Spinner, PhD, FACMG

12 Mar 2026
Molecular Genetics

Dr. Spinner is a Professor of Pathology and Laboratory Medicine at The University of Pennsylvania School of Medicine and (Founding) Chief, of the Division of Genomic Diagnostics at The Children’s Hospital of Philadelphia. She is Board Certified in Clinical Cytogenetics and PhD Medical Genetics, and her practice has focused on clinical, educational and research aspects of Medical Genetics. She is a past Director of the Fellowship Program at CHOP in Cytogenetics and the first Director when it transitioned from separate Cytogenetics and Molecular Training to the Laboratory Genetics and Genomics model currently in place. She has broad research interests in the evolution of genomic testing, and her research is focused on the genetics and diagnosis of rare pediatric disorders, specifically on the genomics of Alagille syndrome, biliary atresia, ring chromosomes, and the utilization of rapid testing in the NICU.  Her work focuses on improving diagnostics and understanding and reducing uncertainty. She has served on multiple National Committees including the Board of Directors of the American Society of Human Genetics and currently chairs the American College of Medical Genetics Economics of Genetic Services Committee.