The Department of Pediatrics' Division of Medical Genetics offers an ACGME-accredited two-year fellowship (with the possibility of an extra year of research) in medical genetics. Fellows spend two years in clinical rotations, including training in the general outpatient genetics clinics, inpatient consultations, along with subspecialty and laboratory rotations. Opportunities exist within the subspecialty cycles for exposure to craniofacial, cardiology, cancer, and neurology patient-care settings. Fellows receive significant experience in genetic counseling, evaluation and treatment of inborn errors of metabolism, and preliminary instruction in biochemical, cytogenetic, and molecular laboratory processes.
Areas of expertise among the faculty include neurofibromatosis, hereditary hearing loss, cardiovascular malformation, skeletal dysplasia, birth defects, epidemiology, developmental biology, dysmorphology, connective tissue disorders, Prader Willi syndrome, lysosomal storage disorders, and mitochondrial disorders. There is also an Undiagnosed Clinic (Penelope Program) with emphasis on exome/genomic sequence analysis. This educational experience is enriched by the great diversity of presentations and interaction with faculty that hold the practice of mentoring as a priority.
This training program satisfies the requirements for the American Board of Medical Genetics and Genomics examination in Medical Genetics.
Training sites include Primary Children's Hospital, Primary Children's Eccles Outpatient Services, University of Utah Hospital, ARUP Laboratories (Clinical Cytogenetics, Clinical Molecular Genetics and Clinical Biochemical Genetics training), and Huntsman Cancer Institute.
The Pediatrics Medical Genetics Fellowship Program collaborates with the Clinical Genetics Research Program (Phenotype Core) and the Utah Genome Program.
If trainees elect to remain for a 3rd year in the fellowship, there is a focus in clinical or bench research. Areas of possible research may include:
- Hereditary hearing loss
- Cardiovascular malformation
- Skeletal dysplasia
- Birth defects epidemiology
- Lysosomal storage disease
- Mitochondrial disorders