Goals and Objectives
The goal of the rotation in the cytogenetics laboratory is to provide the Resident with an understanding of and an appreciation for the laboratory techniques and genetic test interpretation in the clinical cytogenetics specialty. Clinical applications of genetic laboratory techniques and protocols are discussed, as are the limitations of these procedures. At the end of the rotation, the Resident will:
- Recognize how results from cytogenetics diagnostic tests integrated with results from pathology and laboratory medicine to provide the referring physician a more comprehensive clinical picture of the patient.
- Be familiar with routine procedures used in routine clinical cytogenetics tests including prenatal screens, prenatal diagnostic testing, postnatal testing, and cancer testing.
- Be familiar with the specialized technique of fluorescence in situ hybridization (FISH), -as well as its utility in a variety of clinical and research applications.
- Be familiar with RNA- and DNA-based procedures like microarray used in the cytogenetics laboratory and their utility in a variety of clinical and research applications.
- Be familiar with the variety of results possible from molecular and cytogenetic testing, including variations of uncertain significance, benign findings, and pathogenic changes.
Practice-Based Learning and Improvement
- Demonstrate an investigatory and analytical thinking approach to the delineation of chromosomal abnormalities (both constitutional and acquired); the resident should be familiar with the FISH and/or molecular techniques used in delineating a chromosome abnormality identified during a routine cytogenetic analysis.
- Demonstrate an investigatory and analytical thinking for the abnormal results of various molecular assays. Organically incorporate the laboratory results of karyotyping, FISH and molecular investigations with hematopathology analysis for hematology/oncology conditions.
- Utilize current scientific literature to determine the clinical significance of a chromosome abnormality (either constitutional or acquired).
Interpersonal and Communication Skills
- Communicate to appropriate genetics laboratory staff (and also interpret) the pathology review, flow cytometry and/or immunohistochemistry results from patient samples that are found by the genetics laboratory to have an unusual cytogenetic and/or molecular genetic result.
- Recognize the ethical considerations that are inherent in providing genetic information to a patient, due to the familial nature of genetic test results.
- Recognize that the frequencies of a gene's disease-causing mutations can vary widely between ethnic populations.
- Recognize that a negative genetic test result does not eliminate risk of disease/carrier status (posterior risk calculation)
Learn about the different types of genetic laboratories, how these differ from one another, and how using different laboratories as reference laboratories will affect the quality of care and the costs of that care.
The rotation in cytogenetics laboratory lasts for two weeks and typically is in the second year of residency.
Duties and Responsibilities of Residents by Year
- Attending the Center for Human Genetics weekly clinic conference.
- Attending the Laboratory's weekly abnormal meeting and discussing abnormal patient results
- Attending the weekly Interdisciplinary Leukemia/Lymphoma Malignancies Tumor Board Conference.
- Attending weekly cytogenetics abnormal review
- Attending monthly cytogenetics section meeting
- Presenting a 30-60 minute seminar on a topic related to cytogenetics (topic to be mutually agreed upon between the Teaching staff and the Resident.)
- Comparing cytogenetic findings in cancer patients with pathology/morphology review, flow cytometry and immunohistochemistry results.
- Shashi Shetty Ph.D. FACMG, FCCMG - Rotation Director
- Vanja Dimitijevic, ASCP(CG) - Technical Coordinator, Cytogenetics
- Linda Woods, ASCP (CG) - Technologist, FISH trainer
- Jennifer Mockler, ASCP (CG) - Technologist, Microarray trainer
Supervision and Evaluation
Residents meet on a regular basis with the Director of the rotation and with the technical coordinators or assigned technologists for supervision, instruction and review of cases. Residents are evaluated at the end of the rotation using standard pathology resident evaluation form. Input from all teaching staff will be considered in evaluating the resident performance. Evaluations are forwarded to the Residency Program Director, where they are available for review.
The following criteria will be considered for evaluations:
- Punctuality and attendance, work habits, educational initiative, application of medical knowledge and professionalism
- The cytogenetic technical coordinator will report to the director on the resident's understanding of laboratory test protocols, as well as both routine and specialized laboratory techniques.
- The laboratory director will evaluate the resident proposed chromosome, FISH and/or molecular approach like chromosomal/ SNP microarray to study an unusual chromosome abnormality encountered in the lab. The evaluation will be based on the efficiency of the approach (time to complete) and the amount and significance of clinical information gained using this approach.
- The laboratory director will evaluate the resident on his/her utilization of the current scientific literature in determining the clinical significance and prognosis of a chromosome abnormality identified by the cytogenetics laboratory.
- The laboratory director will evaluate the resident on his/her ability to triage for appropriate genetic tests under different clinical scenarios.
- The laboratory director will evaluate the resident on his/her communication and interpretation of pathology review, flow cytometry and/or immunohistochemistry results from patient samples that are found to have an unusual cytogenetic and/or molecular genetic result.
- The director will evaluate the resident's on sensitivity for the ethical considerations that are inherent in providing genetic information to a patient as well as their family.
- The director will evaluate the resident on understanding of genetic test utilization and test ordering practices, and the capacity to troubleshoot and communicate with ordering providers regarding inappropriately ordered tests.
- The laboratory director will evaluate the resident on their understanding of different types of genetic laboratories, how these differ from one another, and how using different laboratories as reference laboratories will affect the quality of care and the costs of that care.