Medical Genetics and Genomics

Hatem El-Shanti, MB, BCh
Division Director
Richard O. Jacobson Foundation Chair in Pediatrics

The Division of Medical Genetics and Genomics is committed to excellence in providing comprehensive services for children, adults and prenatal patients in the diagnosis, treatment, and management of genetic conditions. The Division's multidisciplinary team is comprised of board certified medical geneticists, a molecular genetic pathologist, physician assistants, nurse practitioners, genetic counselors, nurses, and dietitians.  Our clinics include: General Genetics Clinics, Metabolic Genetics Clinics, Connective Tissue Disorder Clinics, Neurofibromatosis Clinics, Cancer Predisposition, Multidisciplinary Tuberous Sclerosis Clinics, and Outreach Genetics Clinics. Genetic diseases and disorders affect families as well as individuals. The medical team provides the information, support and follow-up needed to make informed decisions.  Our medical genetics team collaborates with state and federal agencies, educators, researchers, support groups and others to provide the latest information and treatment options for Iowans and their families.

The Shivanand R. Patil Cytogenetics and Molecular Laboratory is located within the Division of Medical Genetics and Genomics.  The lab is a nationally accredited, CAP-inspected, CLIA certified facility that tests and analyzes subtle changes in genes and chromosomes to assist in the diagnosis of complex developmental problems in children and adults using state-of-the-art methods. The laboratory performs conventional chromosome analysis, fluorescence in situ hybridization (FISH), and chromosomal microarrays for a myriad of indications including cancer diagnosis/prognosis as well as both post and pre-natal genetics.

The Iowa Newborn Screening Dried Blood Spot Program is administered by the Iowa Department of Public Health (IDPH), and contracts with the State Hygienic Laboratory at the University of Iowa to perform screening, quality improvement and educational activities with the Stead Family Department of Pediatrics to provide follow up on abnormal screens, genetic counseling, education and quality improvement activities. All babies born in Iowa receive blood spot screening, hearing screening and critical congenital heart disease screening (pulse oximetry). 

The Division of Medical Genetics and Genomics, located in the University of Iowa Stead Family Department of Pediatrics, offers a Medical Genetics and Genomics Residency Program. Our 2-year accredited program will provide clinical medical geneticists with the skills necessary for comprehensive diagnostic, management and genetic counseling services for patients and families with genetic disorders and birth defects.

The Division of Medical Genetics and Genomics educates residents, medical students and allied healthcare students in the basics of genetic disorders so that they can improve healthcare by identifying potential genetic disorders and properly referring and managing this patient population.

Education and assistance to practicing physicians and allied healthcare providers throughout the state is provided through the division so that they can also improve healthcare by properly referring and managing patients with genetic disorders.

The Division of Medical Genetics and Genomics educates the general population to improve the understanding of basic genetics so that individuals can make informed healthcare decisions for themselves and their family members.