What does a pediatric geneticist do?
An initial outpatient visit usually lasts about 90 minutes. The patient is examined and, with permission, photographs may be taken. At the end of the visit, all findings are reviewed with the patient’s family and recommendations are made. During the visit you can expect the geneticist and genetic counselor/genetic nurse to: • Work with the family to outline their family history and a three-generation family history, including both sides of the family. This family history, also called a pedigree, may reveal an underlying genetic issue in the family. • Diagnose and provide detailed information about genetic conditions. • Recommend and interpret genetic testing and give the family more information about the child’s health condition. • Recommend appropriate treatment and coordinate care. • Refer to resources. What is a birth defect? A “birth defect” is a health problem or physical change, present in a baby at the time he/she is born. Some birth defects may be minor but other birth defects
