GENETICS

Who are genetic counselors? What do they provide?

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counselors provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They:

• Identify families at risk
• Investigate the problem present in the family
• Interpret information about the disorder
• Analyze inheritance patterns and risks of recurrence
• Review available options with the family
• Provide supportive counseling to families
• Serve as patient advocates
• Refer individuals and families to community or state support services.

There are many different subspecialties within genetic counseling, therefore, the specific genetic counselor that you refer to will depend upon the type patients that they see in their practice.

• Pediatric
• Prenatal
• Cancer
• Cardiovascular
• Adult
• Neuromuscular
• Research
• Laboratory

When you have a family or individual who is concerned about their risk of occurrence or recurrence of a specific condition. Indications for referral:

• Developmental delay/Mental retardation
• Growth delay
• Seizures
• Dysmorphic facial features
• Multiple congenital anomalies

• Ultrasound anomalies
• Abnormal serum screening
• Teratogenic exposures

Birth defects - Cleft lip/palate, congenital heart disease, limb malformations, holoprosencephaly

Single gene disorders - Cystic fibrosis, fragile X syndrome, muscular dystrophy, neurofibromatosis

Chromosome abnormalities - Down syndrome, Williams syndrome, translocations

Adult-onset conditions - Huntington disease, Early-onset Alzheimer’s disease, ataxia, dementias

Cancer - Hereditary breast/ovarian cancer; colon cancer, melanoma, pancreatic

Common complex conditions - Coronary artery disease, diabetes, autoimmune disorders

Ethnic carrier screening - Tay Sachs, CF, Sickle cell, Gaucher, thalassemias

Spouse/partner carrier screening - PKU

Pediatrics—Division of Medical Genetics, University of Utah 801-581-8943

Perinatal/preconception—University of Utah 801-581-7825 LDS Hospital 801-408-3897

High Risk Cancer Clinics—Huntsman Cancer Institute 801-585-3525