CYTOGENETICS/MOLECULAR PATHOLOGY

Resident Rotation Summary

Rotation Philosophy and General Purpose Statement:

The cytogenetics/molecular rotation at West Virginia University is designed to instruct trainees in genetic testing in a tertiary care, academic setting. As they evaluate patient specimens, physicians in training are instructed in acquisition and preparation of specimens for cytogenetics and molecular tests, diagnostic evaluation, and ancillary studies. By providing residents with increasing responsibilities and duties, as their level of training increases, the teaching faculty hope to instill in the resident the skills and tools necessary to develop a life-long course of continued professional development.

Teaching Faculty Members: 

Sharon L. Wenger, Ph.D.

EDUCATIONAL GOALS AND OBJECTIVES:

The goals and objectives of the genetics experience are to prepare and enable residents to:

• Demonstrate competency in the procedures involved in work-up and diagnosis of cytogenetics/molecular specimens in order to effectively interpret results.
• Demonstrate professional behavior in all situations.
• Demonstrate a commitment to reviewing and improving their practice patterns and to life-long learning.
• Explain the concepts associated with the scientific basis of genetics and the ability to utilize the medical literature and modern techniques to provide accurate cytogenetic/genetic diagnoses.
• Communicate effectively in verbal and written form with their clinical colleagues, administrative, technical, and clerical personnel.
• Discuss the policies and regulations affecting health care (i.e., CAP accreditation, HIPAA, compliance to Medicare and billing regulations, etc.)

REQUIRED COMPETENCIES, DUTIES AND RESPONSIBILITIES:

PATIENT CARE

Residents should be able to discuss collection and proper preparation of all specimens for cytogenetic and molecular testing.

• Compare similarities and differences in cell culture and harvesting techniques for various tissues.
• Identify chromosomes using banding techniques and fluorescent in situ hybridization.
• List the nomenclature used in describing cytogenetic abnormalities.
• Discuss information obtained by use of different molecular techniques.
• Review the online medical record when applicable.
• Residents demonstrate competence in the performance of procedures considered essential for cytogenetics and molecular testing, including
• Karyotyping of digital images.
• Ability to correlate cytogenetic/FISH/molecular results for patients being monitored for hematological disorders.
• Become familiar with nomenclature used in describing cytogenetic and molecular abnormalities.
• Ability to interpret laboratory results and correlate them with patient clinical information.

Residents make informed decisions regarding diagnostic workup of genetic specimens:

• Consider the use of additional studies such as special stains, FISH and molecular tests, based on patients’ clinical history, up-to-date scientific evidence gleaned from textbooks, journal articles, internet-based searches, and clinical judgment.
• Follow-up additional testing may require consultation with patient’s clinician for additional clinical information or receipt of another sample for further testing.

Residents use available information technology (hospital and laboratory information systems, internet-based literature searches)

• To support workup and diagnosis of cytogenetic/molecular patient specimens
• To help educate clinicians by providing relevant literature references.
• To obtain information related to genetic disorders (OMIM).
• To be aware of laboratories that perform specific molecular tests (GeneTests)

Residents work with health care providers, in the generation of accurate and clinically useful cytogenetic/molecular reports and effective communication of results to clinicians.

Evaluation:

Rotation evaluation

Resident portfolio of cases as reviewed on a daily basis by teaching faculty member.

Global evaluation
360o evaluation

MEDICAL KNOWLEDGE

Residents demonstrate an investigative and analytical thinking approach to clinical situations, including:

• Development of reasonable and complete differential diagnoses for cytogenetic/molecular cases based on the available clinical information, other laboratory results, and current published information.
• Suggest appropriate additional testing and further clinical testing, if applicable.
• Formulation in a comprehensive, cohesive, and coherent fashion for the above differential diagnoses and discussion of cytogenetic/molecular findings in the final report
• Residents must be able to discuss and apply the basic and clinically supportive sciences which are appropriate to the specialty of cytogenetics/molecular testing including:
• Demonstration of knowledge of genetic and neoplastic diseases during discussion of cases, and use of such knowledge to formulate clinical diagnoses.
• Demonstration of familiarity with the clinical presentations and manifestations of various diseases during discussion and workup of cases, and use of such knowledge to formulate diagnoses or prognoses.
• Demonstration of familiarity with basic protocols, including specimen type, culturing techniques for various specimens, harvesting techniques, karyotyping, DNA isolation, molecular techniques including PCR and real time PCR.

Evaluation:

Rotation evaluation

Cytogenetics/molecular pathology score for the in-service examination compared to national means

Global evaluation

PRACTICE-BASED LEARNING

Residents show the ability to analyze practice experience and perform practice-based improvement activities using a systematic methodology, including:

• Discuss the importance of genetic testing for patient diagnosis, prognosis and treatment.
• Utilizing reading material to supplement knowledge of genetic disorders.

Residents show ability to locate, appraise, and assimilate evidence from scientific studies related to patients’ health care problems, including:

• Perform a literature search and review to find relevant scientific references to aid in the workup of genetic cases (computer-based searches).
• Obtain and incorporate information about their patient population (via COPATH computer searches and medical records chart review) for clinicopathologic study of selected diseases.

Residents demonstrate competency in the use of information technology to manage information, access on-line medical information, and support their own education, including:

• Accessing of patient clinical information and previous pathology accessions via Medsite and Copath.
• Performance of computer searches of the medical literature
• Show competence in the use of digital imaging technology.

Residents actively participate in the teaching of medical students and other health care professionals rotating through the cytogenetics/molecular section, including:

• Teaching students and residents from other disciplines during review of genetics cases.
• Preparation of genetic topic for education of laboratory personnel.

Evaluation:

Rotation evaluation

Review of resident portfolio yearly to assess improvement and discuss self-education

INTERPERSONAL AND COMMUNICATION SKILLS

• Residents demonstrate effective communication with other health care providers, patients, and patients’ families by:
• Presenting cases at in-house tumor boards and conferences under direct faculty supervision.
• Interacting with clinicians during performance of immediate genetics evaluations and by providing support to clinicians during on-call assignments.

Evaluation:

Rotation evaluation

Global resident evaluation

360o evaluation

PROFESSIONALISM

Residents must demonstrate a commitment to carrying out professional responsibilities, adherence to ethical principles, and sensitivity to a diverse patient population. Residents are expected to:

• Demonstrate respect, compassion, and integrity; a prompt response to calls from the specimen processing lab regarding specimens and specimen requirements.
  Exhibit a commitment to excellence and on-going professional development by utilizing the study materials within the department including the slide file, the image database, and books and journals for their own professional advancement.
  Demonstrate a commitment to ethical principles pertaining to provision of pathology services, confidentiality of patient information, informed consent, and business practices
  Demonstrate appropriate behavior with the faculty, clinicians, their peers, and the administrative, technical and clerical staff of the hospital.

Evaluation:

• Rotation evaluation
• 360o evaluation
• Global evaluation

SYSTEMS BASED PRACTICE

• Residents must demonstrate an awareness and responsiveness to the larger context and system of health care and the ability to call on system resources to provide pathology services that are of optimal value.
  Residents are expected to understand how genetic diagnoses affect health care decisions for patients and the health care system.
  Discuss the types of medical practice and delivery systems differ from one another, including methods of controlling health care costs and allocating resources.
  Practice cost-effective health care and resource allocation that does not compromise quality of care, understanding the need for and cost of special stains, and other adjunct techniques.
  Residents may also inspect a cytogenetics or molecular lab during a CAP inspection.

Evaluation:

• 360o evaluation
• Global evaluation

Supervisory Guidelines for Patient Care and Specimen Handling

The faculty member is responsible for the final diagnoses of all cytogenetics/molecular pathology cases. The on service teaching faculty members are physically present during standard operating hours; faculty members not physically present are rapidly available by phone or pager. No diagnosis is communicated to the clinicians before a faculty member has evaluated the case.

Daily Duties and Responsibilities – Cytogenetics/Molecular

Based on their level of training, residents are provided increasing autonomy with close faculty supervision. The residents have the previewing all specimens during their rotation. This includes review of the pertinent clinical history, review of the findings, and discussion with the faculty technical staff for cytogenetics and molecular pathology techniques when necessary.

Residents are instructed in molecular and cytogenetics techniques by the technical staff. They are required to review karyotypes or molecular results of each specimen. They are expected to preview as many of their cases as possible prior to signing them out. However, the resident will review all cases with the lab director. With faculty guidance, residents are responsible for directly deciding what additional ancillary studies may be necessary in order to complete each case.

Opportunities to Function as Consultant to Other Physicians

Residents have the responsibility, under faculty supervision, of discussing the interpretive consultative reports on cytogenetics/molecular cases with appropriate members of the clinical staff. Through their discussions with the clinical team members, the residents have the opportunity to directly impact patient care. Other departments on the WVUH campus, with ACGME approved post graduate training programs include, but are not limited to the following: Anesthesiology, Internal Medicine, Family Practice, Neurosurgery, Obstetrics & Gynecology, Ophthalmology, Otolaryngology, Orthopedic Surgery, Pediatrics, Radiology, Surgery, and Urology.

During the rotation the residents are exposed to laboratory correlation studies. These will include, but are not limited to, the following:

• Correlation of diagnosis with chromosome abnormality.
  Correlation of clinical findings with molecular test results.
  Correlation of ancillary studies with cytogenetic and molecular studies in the work-up of lymphomas and hematologic disorders.
  Communication with On-duty Faculty

During general working hours, the on service teaching faculty is available in person; by phone, and by pager.

Structured Education and Management of the Cytogenetics Laboratory

The residents attend scheduled quality assurance, laboratory safety, and other appropriate staff meetings, as they relate to cytogenetics. As opportunity provides, residents will be allowed to participate in CAP laboratory accreditation activities, including self-inspections and inspections of other institutions. Residents are urged to attend an Inspector Training Course provided by the CAP.