Goals and Objectives
The goal of the rotation in the clinical genetics laboratory is to provide the Resident with an understanding of and an appreciation for the laboratory techniques and tests used in the clinical cytogenetics, clinical molecular genetics and prenatal screening laboratories. Clinical and research applications of genetic laboratory techniques and protocols are discussed, as the limitations of these procedures. At the end of the rotation, the Resident will:
Recognize how results from cytogenetics and molecular genetics diagnostic tests and from prenatal screening tests can be 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, clinical molecular genetics and prenatal screening tests.
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 PCR and other DNA-based procedures used in the molecular genetics laboratory and their utility in a variety of clinical and research applications.
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.
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.
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 Clinical Cytogenetics lasts for one month in conjunction with the rotation in Molecular Diagnostics and the Prenatal Screening Laboratory.
Duties and Responsibilities of Residents by Year
Regardless the training year in which the resident rotates through the cytogenetics laboratory, their responsibilities within this rotation are the same. These responsibilities include:
Attending the Center for Human Genetics weekly clinic conference.
Attending the Laboratory's weekly abnormal meeting and discussing abnormal patient results, both cytogenetic and molecular.
Attending the weekly Interdisciplinary Leukemia/Lymphoma Malignancies Tumor Board Conference.
Attending biweekly cytogenetics/molecular laboratory meeting.
Presenting a 30 minute seminar on a topic related to cytogenetics, prenatal screening, or molecular diagnostics (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.
In some instances, fellows (specifically Hematopathology fellows) will rotate within the lab. Their responsibilities will be similar to those outlined here for Residents, except that a greater portion of their time will be spent studying cancer abnormalities and the correlation between bone marrow pathology and cytogenetic abnormalities.
Christine Curtis, PhD, FACMG - Acting Director, Center for Human Genetics Laboratory
Linda J. Jeng, MD, PhD - Acting Assistant Director, Center for Human Genetics Laboratory, Molecular Diagnostic Laboratory
Laurie Christ - Supervisor, Cytogenetics, FISH Section
Mary Kochera, MS - Supervisor, Cytogenetics, Cancer Section
Marie Haren, MS - Supervisor, Cytogenetics, Blood Section
Renee Slaw - Supervisor, Cytogenetics, Amniocentesis Section
Bruce Tyler - Cytogenetics, Tissue/Products of Conception Section
Shahla Vahabi- Manager, Molecular Diagnostic Lab
Jill MacAleer - Supervisor, Prenatal Screening Lab
Azita Sadeghpour, PhD, MS - Laboratory Genetic Counselor
Supervision and Evaluation
Residents meet on a regular basis with the Director of the rotation and with the lead technologists for supervision, instruction and review of cases.
Residents are evaluated on a monthly basis with regard to medical ability, work habits, educational initiative, and personal attributes. Evaluations are forwarded to the Residency Program Director, where they are available for review. This evaluation will include but not be limited to the following:
The cytogenetic and molecular diagnostic supervisors will report to the director on the resident's understanding of laboratory test protocols, as well as both routine and specialized laboratory techniques (using a scale of 1 - 10).
The laboratory director will evaluate (on a scale of 1 - 10) the resident's proposed FISH and/or molecular approach to studying 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 a scale of 1 - 10) 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 a scale of 1 - 10) 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 Laboratory Genetic Counselor will report to the director on the resident's sensitivity for the ethical considerations that are inherent in providing genetic information to a patient as well as their family (using a scale of 1 -10).
The laboratory director will evaluate the resident (on a scale of 1 - 10) 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.