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Cytogenetics is used to detect chromosome abnormalities responsible for birth defects and developmental problems, in making a diagnosis, predicting prognosis and following the course of various leukemias and other cancers, and as a tool to monitor the course of disease progression for certain malignancies.
During the one month rotation in the Cytogenetics Laboratory at Cedars-Sinai, residents learn to use standard or specialized banding techniques, or molecular cytogenetic techniques for the evaluation of both congenital and acquired chromosome abnormalities that have an impact on phenotype, reproduction and malignancy. The Cytogenetics Laboratory provides the full range of state-of-the-art services, including classical cytogenetic analysis, high-resolution chromosome analysis and molecular cytogenetics (fluorescence in situ hybridization, or FISH) on a variety of specimen types, such as blood, bone marrow, lymph nodes, solid tumors, tissue (e.g., POC or skin), amniotic fluid cells and chorionic villi or placenta.
The Cytogenetics Rotation includes didactics, rounding in the laboratory, physician interaction with technical specialists/experts (clinical laboratory scientists), bench experience, epidemiologic experience, intensive management experience, and extensive testing (a philosophy of work, study, learn, challenge and evaluate for mastery). Initially, mutual expectations are discussed between the Director of the Cytogenetics program and the resident. Clearly, input from the resident relating to expectations depends on the residents experience and potential future directions. All functions of the rotation are designed to reach the level of the core competencies.
Didactics are provided by the faculty and lab staff through individual discussions and weekly laboratory meetings, although many competencies for the specialty of Cytogenetics are met primarily by intensive study, including bench work, medical practice and management, rounds, reading assignments and a formidable work 'ethic'. Conferences include the daily required conferences (AP-CP) and specialty conferences including miscellaneous specialty conferences, depending on the topic as well as Divisional management and technology-related discussions.
Below is a schedule of the daily resident activities during the rotation:
|The Daily Cytogenetics Schedule|
UCLA genetic course (if relevant)
Dr Falk's pediatric genetic clinic
|Wet lab & karyotyping|
Cytogenetics lab meeting
Clinical conference (Goodson)
|Prenatal genetic & counseling||2:00-6:00|
Case review & molecular cytogenetics
|Wet Lab & case interpretation||4:00-6:00|
Wet lab or scope work
Specific Cytogenetics Goals and Objectives
- Gather accurate clinical and genetic information to generate an appropriate family pedigree.
- Demonstrate the ability to identify family members in need of further testing.
- Explain genetic counseling principles.
- Describe the requirements and structure of QA and QC in the cytogenetics lab.
- Recognize the most common cytogenetic abnormalities in common clinical conditions.
- Define the language and techniques used in cytogenetic testing and result interpretation.
Interpersonal and Communication Skills:
- Acquire the ability to construct clear, cogent, accurate and properly formatted
- Correctly interact with physicians and/or clinical support staff to obtain clinical
information and discuss cytogenetic test results.
- Demonstrate knowledge of regulatory and Health Insurance Portability and Accountability Act (HIPAA) issues pertaining to the use of genetic testing in human research and clinical molecular practice.
Practice-Based Learning and Improvement:
- Function as a consultant in clinical service.
- Complete reading from the supplied list of references and from other resources as appropriate for the cases that are encountered.