Residency Program Goals

The Genetic Medicine Clinical Residency is a two-year program designed to train physicians in providing families and patients with comprehensive diagnostic, management and counseling services for inherited conditions. In addition, residents will gain an appreciation for the complexity and heterogeneity of the genetic factors inherent to all diseases. The training experience also emphasizes the role of research in genetic medicine, providing trainees with the skills to pursue investigator-initiated research upon completion of the program. Trainees may elect to perform a one-year research fellowship immediately after the two-year residency training period.

Residents will achieve comprehensive training and expertise in genetic medicine while becoming adept in the following ACGME core competencies:

1. Patient Care
2. Medical Knowledge
3. Practice-Based Learning
4. Interpersonal Communication Skills
5. Professionalism
6. Systems-Based Practice

Residents will acquire an understanding of basic principles of human genetics, biochemical and cytogenetic disorders, as well as mathematical models used in population genetics and probability analysis.

These core competencies will be learned through the practice of the following skills:

1. Obtain and interpret patient and family medical history relevant to genetic disease
2. Elicit detailed and pertinent pedigrees
3. Assess normal and abnormal patterns of development and maturation by physical examination
4. Interpret laboratory tests, imaging studies, and specialized genetic studies relevant to diagnosis
5. Assemble an appropriate and complete differential diagnosis
6. Develop a plan to establish a diagnosis
7. Counsel patients and family members about the cause of natural history of genetic disorders and malformation syndromes

By the end of the first year, residents will have gained knowledge in the elements of molecular genetics, biochemical genetics, and cytogenetics relevant to the diagnosis and management of patients with genetic disorders. This includes testing and screening for disease, mechanisms of disease, and treatment of disease.

During the second year residents will become proficient in the following skills:

1. Design a management plan appropriate to the diagnosis or clinical presentation
2. Incorporate knowledge regarding heterogeneity, variability, penetrance, and natural history in patient management
3. Calculate and explain genetic risk
4. Obtain up-to-date information on clinical conditions from a variety of information resources (OMIM, POSSUM, NCBI etc.) to aid the process of diagnosis, management, counseling, and research.
5. The principles of hypothesis-driven research and their application to a problem derived from the clinical experience.

By the end of the second year, residents will be able to independently manage patients with a variety of disorders with a genetic component. The research Fellowship year of the program is a uniquely funded opportunity designed to provide residents with a 12-month period devoted to research projects of their own choosing, a program that will prepare them for career opportunities as a physician scientist.