Clinical Genetics Service
The goal for a trainee during the Clinical Genetics service is to become a medical geneticist. This will involve seeing at least 150 patients within an inpatient and outpatient tertiary care setting. These patients will include those with disorders of mendelian genetics, cytogenetics, contiguous gene deletions, dysmorphology, congenital malformations, multifactorial disorders, mental retardation and developmental disabilities.
In addition, the trainee will see patients who have questions regarding prenatal diagnosis and teratology. Clinical medical geneticists should be able to:
- Diagnose and manage genetic disorders
- Provide patient and family counseling
- Use knowledge of heterogeneity, variability, and natural history of genetic disorders in patient-care decision making
- Elicit and interpret individual and family medical histories
- Interpret clinical genetics and specialized laboratory testing information
- Explain the causes and natural history of genetic disorders and genetic risk assessment
- Interact with other health-care professionals in the provision of services for patients with genetically influenced disorders
Objectives
- Take a pedigree and draw it properly
- Together with the genetic counselor, analyze the pedigree to obtain pertinent past medical records from appropriate “affected” members
- Participate in pre-clinic conference by reviewing and summarizing the patient’s findings from past records followed by anticipating and formulating a differential diagnosis
- Search the literature for appropriate references regarding the differential diagnosis
- Conduct the interview of the parents
- Perform physical exam on the patient with particular attention to dysmorphology, growth parameters and specialized measurements, and dermatoglyphics
- Present the case to the attending physician and to other clinic attendings and genetic counselors
- Reassess the differential diagnosis
- Plan tests necessary to arrive at a definitive diagnosis
- Under guidance of attending physician, explain plan to patient and/or patient’s parents
- Further define the diagnosis by going back and performing a literature review
- Dictate a report for patient's permanent genetics chart and referring physician's chart to include the birth history, past medical history, family history, physical examination, differential diagnosis and references
- Communicate interim plan by phone to referring physician
- With attending physician, counsel family after tests have returned
- Make follow-up plan with counselors and attending physicians, communicate with other specialists regarding this plan
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