 Resident
Manual
Rotation in Molecular Pathology/Cytogenetics
This is a one month
rotation for residents to obtain a practical understanding of the molecular
and cytogenetic methods likely to see wide use in clinical laboratories over
the next few years. This document covers the Cytogenetic portion of this
rotation.
Cytogenetics
Introduction
The general goal of the
Cytogenetics rotation is to develop an understanding of when and why to order
cytogenetic tests, appreciate some of the technical and financial
considerations, understand advantages and disadvantages and overlapping efficacy
of the clinically relevant technologies in both Cytogenetics and Molecular
Pathology, and have a basic understanding of the interpretation of cytogenetic
and fluorescent in-situ hybridization assays.
The objectives of the rotation
are encompassed by the six core competencies as defined by the ACGME and
residents will be evaluated during their training in each of these areas. The
above goals will be met through attainment of the core competencies as they
pertain to this rotation:
Medical
Knowledge
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Use all relevant
information resources to acquire and evaluate evidence-based information.
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Develop and maintain a
knowledge base in the basic and clinical sciences necessary for effective
consultation in Cytogenetics that includes testing for genetic and malignant
conditions by karyotyping and FISH.
-
Understand the various
levels of evidence in medicine and their translation into evidence-based
practice.
Practice-based learning and improvement
-
Demonstrate the ability
to critically assess the scientific literature.
-
Demonstrate knowledge of
evidence-based medicine.
-
Use multiple sources,
including information technology, to optimize life-long learning and support
patient care decisions.
-
Develop personally
effective strategies for the identification and remediation of gaps in
medical knowledge needed for effective practice.
Interpersonal and communication skills
-
Demonstrate the ability
to work with health care personnel and administrators to develop clinically
advantageous and cost-effective care-delivery strategies.
-
Use effective modes and
mechanisms of communication.
Professionalism
-
Interact with others
without discriminating based on religious, ethnic, sexual, or educational
differences.
-
Demonstrate positive
work habits, including punctuality, dependability, and professional
appearance.
-
Demonstrate principles
of confidentiality with all information transmitted both during and outside
a patient encounter.
-
Demonstrate a commitment
to excellence and ongoing professional development.
-
Demonstrate
interpersonal skills in functioning as a member of a multidisciplinary
health care team.
Systems-based practice
-
Demonstrate
understanding of the role of the clinical laboratory in the health care
system.
-
Demonstrate knowledge of
the laboratory regulatory environment including issues related to home-brew
assay development and validation.
Service Responsibilities
There are no direct service responsibilities during this
rotation. The resident on this rotation may take Clinical Pathology or
Anatomic Pathology call.
Specific Topic and Reading Assignments
The focus will be on an
introduction to cytogenetic methods and syndromes, the applied imaging system
and chromosome identification, and the procedure for karyotyping. Basic
hands-on instruction in karyotyping and chromosome analysis will be performed.
Discussions with the Director of the Section of Human
Genetics, Growth, and Development and/or the genetic counselor can be arranged.
Texts
and Reading Assignments
Required:
MMBID, 8th ed., 2001.
Mc-Graw-Hill. Scriver, Beaudet, Valle, Sly (eds.)
-
Chap. 1: Overview
-
Chap. 10: Human Genome
Project
-
Chap. 15: Genomic
Imprinting
-
Chaps. 19 & 20: Cancer
cytogenetics
-
Chap. 61: Sex
chromosomes and X inactivation
-
Chap. 62: SRY and
Sex-reversal syndromes
-
Chap. 63: Down
Syndrome
-
Chap. 64:
Fragile X syndrome
-
Chap. 65: Molecular
Cytogenetics
Recommended:
-
ISCN (2005): An International System for Human Cytogenetic Nomenclature,
Shaffer L.G., Tommerup N. (eds); S. Karger, Basel 2005.
(essentials of chromosome identification)
-
Thompson & Thompson
Genetics in Medicine, 6th ed., 2001.
Chapters 2, 3 (basic), and 9, 10 (clinical)
-
Gardner and Sutherland:
Chromosome abnormalities and Genetic Counseling, 3rd ed., 2004, Oxford U.
Press.
(detailed mechanisms; segregation; recurrence risks; essentials for
clinicians and laboratory directors)
-
Vogel and Motulsky:
Human Genetics: Problems and Approaches, 3rd ed., 1997. Springer-Verlag.
Chapter 2-Human
Chromosomes. (comprehensive chapter on cytogenetics, including history,
methods, meiosis, abnormalities and clinical features; Best discussion of
human meiosis anywhere)
-
AGT Cytogenetics
Laboratory Manual, 3rd ed. Barch, Knutsen, and Spurbeck (eds.), Lippincott,
1997.
(detailed methods and principals for laboratory directors)
Websites
Evaluation
Evaluation will be performed by the Cytogenetics
Medical Director. Criteria used will include attendance, effort in performing
bench work, and an informal assessment of knowledge gained from reading and
didactic sessions.
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