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Students will participate in the weekly Genetics and Metabolism clinics on Monday afternoons and all day Tuesdays, Wednesdays, Thursdays and Fridays. Clinics are held at NC Children’s Hospital Ground floor Pediatric Specialty Clinic area and Rex Children’s Specialty Clinic in Raleigh. Students will also participate in in-patient and out-patient consultations and weekly conferences including Clinical Genetics Case conferences, Medical/Human Genetics Conference, and Center for Maternal and Infant Health conference. Students are expected to make arrangements early in the rotation to spend time in the Cytogenetics and Biochemical Genetics laboratories. Students should familiarize themselves with the patients they will be seeing during clinics, read up on the diagnosis, review the patient’s medical record, etc. New patients are seen first by a genetic counselor (the student should observe these at the beginning, practice taking the family history along with the counselor) and then by the attending. Follow-up metabolic patients are seen first by the dietitian and then by the attending. Students should plan on seeing a wide variety of patients during the month. With experience, students may be asked to see patients on their own, perform the physical exam, think about the diagnostic possibilities and workup plan and present to the attending who will then see the patient. There is always supervision and oversight from the genetics attending with all patient interactions. It often works best to focus each clinic day on either Metabolic patients or General Genetics/Dysmorphology patients.

On the inpatient consult service, students are expected to review the patient’s medical record, perform a history and physical exam, review the literature and genetics databases and prepare to discuss diagnostic possibilities and what diagnostic studies and treatment plan are indicated, and arrange for a time to present the case to the attending and see the patient/family together. The student should write up the consult note in the student section in Epic and forward to the attending.

There is information on the Pediatric Residency website about electives in Pediatric Genetics, a tutorial on the dysmorphology exam, and required and suggested readings.

Students are encouraged to find an interesting case during the month that they will do additional research about possibly leading to a case report publication.