Physicians in the Genetics Program, also called geneticists, provide complete diagnostic evaluations for newborns and children affected by a wide range of genetic conditions. Children with birth defects, connective tissue disorders, developmental impairment, mental retardation, skeletal dysplasias and neurological disorders are all seen in the genetics program at the Stramski Center.
Children are often referred to a geneticist to help diagnose and rule out various genetic causes for a child’s current condition or behavioral development issue. The child’s medical record is needed so the geneticist and the genetics care team can better understand the child’s history.
The parents and child will meet with at least one member of the genetics care team, which includes a genetic counselor, a clinical genetics fellow, and/or a geneticist.
A genetics care team member will explain the results of the physical exam to the family and child. The main goal of the evaluation is to provide a diagnosis. If a diagnosis can be made, the care team will share what is known about the condition, including the cause, pattern of inheritance, prognosis, recurrence risks, available resources and possibilities for prenatal diagnosis and genetic testing for family members.
Unfortunately, a diagnosis cannot always be made despite the extensive evaluations performed. The care team will share as much information as they have with parents, to help them make informed decisions. A future follow-up visit is recommended, because knowledge of genetics and available genetic testing is always evolving and certain genetic conditions may become clearer with time.
Visit the Genetics Clinic