Patient Care
Technical Skills
The resident will learn about, and master some of, the technical skills necessary for the practice of clinical cytogenetics. These technical skills include optimal specimen collection, methods of processing various tissues for routine and molecular cytogenetic analyses, different methods for staining and banding metaphase chromosomes, and preparation of samples for fluorescence-based cytogenetic testing (FISH, CGH, SKY). The resident will learn to analyze G-banded metaphase spreads, prepare karyotypes, interpret karyotypic findings, and write the karyotype designation using the International System for Human Cytogenetic Nomenclature (ISCN, 2005). The resident will also learn to interpret results of fluorescence-based molecular cytogenetic testing.
Clinical Consultation
The resident will learn how to provide appropriate and effective cytogenetics consultation to clinicians and other health care providers. Consultation may include indications for cytogenetic testing in a variety of clinical situations (products of conception, prenatal diagnosis, suspected constitutional chromosome abnormalities, and acquired clonal chromosome abnormalities in hematologic disorders and non-hematologic solid tumors), specimen requirements for testing, sample collection and transport to the laboratory, interpretation of the test results, recommendations for additional diagnostic tests, and referral to a clinical geneticist or genetic counselor.
Medical Knowledge
Fund of Medical Knowledge
The resident will develop a fund of general and specialized medical knowledge necessary for the practice of clinical cytogenetics. This will include knowledge of the more common constitutional chromosome abnormalities, mechanisms by which these abnormalities arise, their phenotypic consequences, and counseling issues that are raised. It will also include knowledge of the more common recurring chromosome abnormalities found in hematologic disorders and non-hematologic solid tumors; and the diagnostic, prognostic, and biologic implications of these abnormalities.
Application of Medical Knowledge in the Practice of Pathology
The resident will learn to effectively apply his/her general and specialized medical knowledge of clinical cytogenetics in the day-to-day practice of pathology. The resident is expected to apply his/her knowledge to assess various clinical situations, propose a reasonable differential diagnosis, recommend appropriate cytogenetic testing, establish a definitive diagnosis, and discuss the prognostic and therapeutic implications of the diagnosis.
Practice-Based Learning and Improvement
Evidence-Based Practice
The resident will learn to effectively use conferences, lectures, teaching cases, and medical literature (texts, journals, and other medical information systems) related to clinical cytogenetics to inform his/her practice of pathology. The resident will develop the ability to critically evaluate the quality of the various sources of information and to select those of the highest quality and reliability for use in medical decision making.
Use of Information Technology
The resident will learn to use a variety of information technologies to augment and improve his/her application of clinical cytogenetics to the practice of pathology. Examples of information technologies to be mastered include electronic medical literature and databases, Web-based information sources, and computer-based resources such as CDs and DVDs.
Interpersonal and Communication Skills
Communication Skills
The resident will learn to communicate clinical cytogenetics information effectively and courteously with laboratory staff members, health care providers, clerical and administrative staff, and other individuals encountered in the course of his/her rotation. Communication will be verbal and written; and must be clear, concise, and accurate.
Teamwork
The resident will learn to work as an effective member of the clinical cytogenetics team during his/her rotation. The resident is expected to perform his/her tasks in a responsible and timely fashion, to facilitate the tasks of others, and to be respectful and cooperative in his/her interactions with all members of the section.
Professionalism
Courtesy and Collegiality
The resident is expected to treat all members of the clinical cytogenetics section and other individuals encountered during the rotation courteously and respectfully. He/she is also expected to be collegial in all interactions with other members of the health care team. The resident should strive to comport himself/herself in a professional manner at all times.
Professional Responsibility
The resident will learn to take his/her professional responsibilities seriously and act accordingly. The resident should strive to approach these responsibilities with a positive attitude, and to complete all tasks and assignments effectively and in a timely fashion.
Systems-Based Practice
The Health Care System and the Role of Clinical Cytogenetics
The resident will acquire knowledge of practice and health care delivery systems and an awareness of the role of clinical cytogenetics in the context of the greater health care system. The resident will learn about general regulatory and financial aspects of health care delivery. In particular, the resident will learn judicious use of clinical cytogenetics services, cost-benefit analysis of these services, how to assess the quality of the services provided by cytogenetics laboratories, and which cases are best sent to reference laboratories for testing. The resident should learn to gather relevant data regarding cytogenetics services as needed in support of quality care and the Institution.
General Laboratory Administration
The resident will learn some of the general administrative and managerial aspects of a clinical cytogenetics laboratory. These aspects include the principles of quality control and quality management, safety, laboratory staffing, instrumentation, workflow and turnaround time, customer service, and laboratory accreditation.
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C. Overview
The NIH/NCI/LP Clinical Cytogenetics Section was established in November 1996 under the direction of Dr. Diane Arthur. The Section is actively involved in diagnostic service, teaching and training, and clinical research. Section members provide diagnostic and consultative cytogenetics services to the NIH Clinical Center, the National Cancer Institute, and other Institutes of the NIH. Services include high-resolution G-banded karyotype analysis for the detection of constitutional as well as acquired chromosome abnormalities, and also metaphase and interphase fluorescence in-situ hybridization (FISH) analyses. Comparative genomic hybridization (CGH) and spectral karyotyping (SKY) technologies are employed as indicated, usually in conjunction with NIH clinical research protocols.
All Anatomic Pathology residents are required to do a one-month rotation in Clinical Cytogenetics. The residents are instructed in the the indications for clinical cytogenetics testing, specimen requirements, the various techniques used to process different tissues for cytogenetic analyses, methods of staining and banding metaphase chromosomes for analysis, and the applications of molecular cytogenetic technologies to diagnostic testing. Residents review the more common constitutional chromosomal abnormalities, their phenotypic consequences, mechanisms by which the abnormalities arise, and counseling issues that are raised. They also learn the more common recurring chromosomal abnormalities found in hematologic malignancies and non-hematologic solid tumors; and the diagnostic, prognostic, and biologic implications of these abnormalities. Residents gain hands-on experience in processing, analyzing, and interpreting results of cytogenetics cases.
Resident training is under the direct supervision of Dr. Arthur. During the first half of the rotation, residents focus on general principles, samples, methodology, and prenatal and constitutional chromosome abnormalities. The second half of the rotation is devoted to cancer cytogenetics, which is more challenging from the standpoint of karyotypic interpretation. To assure all residents receive comprehensive training, they work through a series of 35 teaching cases. Residents receive relevant clinical and laboratory information for each case; and they are expected to review and interpret the karyotypes, write the correct nomenclature (ISCN 2005), and answer questions regarding the significance of the findings. Instruction consists of one-on-one didactic sessions with Dr. Arthur, relevant readings in textbooks and journals, observation of processing of patient samples, processing and analysis of their own peripheral blood (optional), karyotyping of digital prints of G-banded metaphase spreads from previously-analyzed cases, and review of current and past diagnostic service and research cases. All residents present one talk on a cytogenetics topic of special interest to them at a laboratory meeting at the end of their rotation.
For more information on clinical departments (e.g., procedures, staff information, specimen collection, forms, etc), please see: http://home.ccr.cancer.gov/LOP/Clinical/clinops.asp and click on the link for the appropriate section.
