Medical Genetics

This elective provides an exposure to the principles of basic human genetics with an emphasis on the dysmorphic child, syndrome identification, and inborn errors of metabolism in the genetics clinic and through inpatient consultation. Additional emphasis on genetic testing and counseling will also be provided. No weekends or call. Although residents do not typically participate in this elective, students will have an opportunity to interact with them during resident conferences.

Course Learning Objectives:

By the end of this course, the student should be able to:

1. Describe clinical indications for patient referral to genetic services and the public health and health care systems (e.g., newborn screening, national guidelines) in which genetic medicine is practiced.
2. Evaluate patients with a known or suspected genetic condition using a systematic approach.
   Perform a comprehensive physical examination with an emphasis on the documentation of congenital anomalies and dysmorphic features.
3. Construct a complete three-generation pedigree and determine possible modes of inheritance.
4. Practice genetic counseling.
5. Identify up-to-date genetic and genomic testing technologies and their applications in a clinical setting.
6. Discuss the natural history, etiology, inheritance, and management of the most common disorders seen by clinical geneticists:
7. Klinefelter, Down, Noonan, Turner, NF1, 22q11.2 deletion syndromes (Genetic quiz series).
8. Identify online resources for physicians who care for patients with genetic disorders, (GeneReviews, OMIM) and community resources (NORD, Medline Plus) and support groups for individuals with most common genetic disorders and their families.