University of Utah Health Program

Program Identity & Fit

The University of Utah Medical Genetics and Genomics program is an academic, tertiary/quaternary-care training pathway anchored at Primary Children's Hospital, University of Utah Hospital, ARUP Laboratories, and Huntsman Cancer Institute, serving as the referral center for a roughly 400,000-square-mile region of the Intermountain West. Training spans general outpatient genetics, inpatient consultation, and subspecialty rotations (craniofacial, cardiology, cancer, neurology), with direct laboratory immersion in cytogenetics, molecular, and biochemical genetics at ARUP, plus a distinctive Undiagnosed Diseases Program (Penelope) centered on exome/genomic sequencing. Research is structurally embedded through the Clinical Genetics Research Program (Phenotype Core) and Utah Genome Program, with an optional third fellowship year for dedicated clinical or bench research in areas like neurofibromatosis, skeletal dysplasia, and mitochondrial disease. The program values trainees drawn to diagnostic complexity, laboratory-clinical integration, and dysmorphology/metabolic disease expertise within a mentorship-oriented divisional culture.