Download A Step Toward Curriculum Reform

EDUCATION
Linda E. Miller, PhD, l(ASCP)SI
Harriet B. Rolen-Mark, MA, MT(ASCP)
A Step Toward
Curriculum Reform
Incorporating a Human Genetics Course
Into a Medical Technology Program
During the past 30 years, we have witnessed the
evolution of genetics from a purely academic discipline into a clinical specialty relevant to every
branch of medicine. 1-3 Recent discoveries of
disease-related genes have assisted clinicians in
diagnosis and determination of carrier status,4
and have inspired the development of gene therapies that some day may cure disease.5 Modern
cytogenetics and molecular genetics have
emerged from the research setting and now are
being incorporated into the clinical laboratory.
Molecular DNA technology can be applied to
nearly every field of diagnostic medicine and
pathology.2-4
In light of these advances, we felt the need to
incorporate more of this new information into
the medical technology curriculum at the State
University of New York Health Science Center at
Syracuse. For several years, the 2 + 2 program
required students to take a course in classical
genetics during their junior year. When reviewing
the curriculum, faculty of the medical technology
program questioned whether the course should
continue to be included. One drawback to the
course was the difficulty students experienced in
relating the genetics of Drosophila and yeast to
clinical laboratory science.
Background
During the fall of 1992, we conducted a small,
informal telephone survey to determine what
courses other medical technology programs were
offering. We found that only 1 out of the 12
university-based baccalaureate programs in
ABSTRACT | Genetics has emerged from a purely basic
science into a specialty with important applications to laboratory medicine. Although educators have recognized the need
to incorporate genetics concepts into medical technology
curricula, only a few programs nationwide require a genetics
course. In this article, we describe the syllabus of a human
genetics course in the medical technology curriculum of the
State University of New York Health Science Center at
Syracuse. Designed in consultation with clinical geneticists,
the course combines fundamental principles ofgenetics with
their applications to laboratory testing and diagnosis.
Molecular diagnostics and cytogenetics are emphasized with
the aid of laboratory exercises. These exercises and a complete
list of course topics are described. Student evaluations
of the course were positive. We believe that integrated presentation ofgenetics concepts in the curriculum will better
prepare students to meet the challenges they will encounter 1o0
in the clinical laboratory science profession.
O
c
medical technology we contacted required a
genetics course as part of their curriculum or as a
prerequisite. Results of a recently published
national survey substantiated these results—only
33 (16%) of the 211 medical technology programs responding required genetics.6
Most program directors with whom we spoke
said they felt that classical genetics was "nice to
know" but was difficult to fit into an already
crowded curriculum. Our program, as well as the
programs of those with whom we spoke, taught
small segments of clinical genetics in some of the
professional courses in the curriculum (hematology, blood banking, microbiology, and immunology) in order to address modern advances in
SEPTEMBER
1995
V O L U M E 26, NUMBER 9
From the
Department of
Medical Technology,
State University of
New York Health
Science Center at
Syracuse.
Reprint and course
outline requests to
Dr Miller,
Department of
Medical Technology,
SUNY Health
Science Center,
Room 2156
Weiskotten Hall, 750
E Adams St,
Syracuse, NY 13210.
LABORATORY MEDICINE
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TOPICS PRESENTED IIM HUMAN GENETICS COURSE
Mitosis and meiosis
Introduction to mendelian genetics
Autosomal inheritance
Sex determination and linkage
Complicating factors and nonmendelian inheritance
Gene linkage and chromosome mapping
DNA structure and replication
Gene expression: transcription and translation
Mutations
Inborn errors of metabolism
Bacterial and viral genetics
Molecular diagnostics I: techniques
Molecular diagnostics II: applications
Laboratory demonstration in molecular diagnostics
Introduction to cytogenetics
Clinical applications of cytogenetics
Laboratory demonstration in cytogenetics
Genetics of cancer
Population genetics I
Population genetics II
Andrology
Reproductive technologies
Prenatal diagnosis and counseling
Ethical issues related to genetics
genetics that applied to clinical laboratory science.
In light of the vast amount of knowledge recently
accumulated in this area and its impact on clinical
diagnosis, however, we felt that our students
needed a more integrated presentation of these
important concepts, with a stronger emphasis on
their applications to the clinical laboratory.
The 1993 ASCP-AMS Educator's Consensus
Conference, "Evolution or Revolution? Medical
Technology Curriculum Reform," held in Iowa
City, Iowa, reinforced our feelings. Educators at
this conference concurred that medical technologists needed to become more competent in specialized areas, such as medical genetics. According
to the educators, this subject, especially molecular
biology and the use of DNA probes, should
receive more attention in medical technology
curricula in order to prepare students adequately
for future job-related responsibilities.7
After many discussions, faculty agreed that the
program needed to delete the traditional genetics
course from the curriculum and replace it with a
new course in human genetics. We were fortunate
that the university hospital had a long-standing
LABORATORY MEDICINE
VOLUME 26, NUMBER 9
SEPTEMBER 1995
cytogenetics laboratory and recently had added
laboratory sections in molecular diagnostics and
andrology to its clinical pathology division.
Clinical faculty who were experts in these areas
directed these sections. We held several meetings
during which we conferred with the geneticists to
develop an initial design of the proposed course.
The N e w Course
The product of these discussions was a 3-credithour course, which we implemented in the fall
of 1993. The course has been scheduled for two
1%-hour sessions per week during a 15-week
semester; two of these sessions are devoted to
laboratory exercises, and the remaining classes
are given in a lecture format.
Because of her background and interest in the
area, one of this article's authors (Dr Miller),
coordinated the course and presented the fundamental principles of genetics in the initial section
of the course. She presented examples concerning
the inheritance of plant traits studied by Gregor
Mendel and phenotypes related to human diseases to illustrate the principles of mendelian
genetics.
Subsequent lectures concentrated on applications of these principles to the field of laboratory
testing and its role in disease diagnosis. Clinical
faculty who were experts in specialized areas of
medical genetics presented these lectures. The
clinical faculty were eager to participate in this
new course and relate information about their
areas of specialization, which they felt needed to
be better emphasized in the education of health
care professionals. A list of topics included in the
initial course offering is presented in the Table.
Laboratory Exercises
In addition, the clinical faculty set up two laboratory exercises that allowed students to obtain tangible experience with some of the procedures
integral to the molecular diagnostics and cytogenetics laboratories. These sessions were designed
to accommodate 20 students.
The laboratory exercise in molecular diagnostics involved the demonstration of polyacrylamide
gel electrophoresis of DNA previously isolated
from sputum samples. The results were analyzed
to identify the presence of tuberculosis infection.
While the electrophoresis was taking place, students gained experience in isolating DNA from a
predigested lymph node specimen by precipitating it with ethanol, spooling it on a glass rod, drying it, and then dissolving it in TRIS EDTA buffer.
Students also were divided into small groups to
Student Laboratory Exercise
Hemophilia A Linkage Analysis
In the family pedigree shown, the subject is a
pregnant woman who has three brothers with
hemophilia A—she wishes to know her carrier
status. Students were provided autoradiograms
showing the restriction endonuclease band patterns obtained after testing blood samples from
the subject, her parents, and one affected brother.
Four genetic markers associated with hemophilia
A (DX 13, St 14.1, p 1.8, and p 482.6) were characterized for each individual. From the autoradiograms, students first determined the genotype of
each individual tested. Next, they ordered the
Markers
DX13(B(|III)
St14.1 (Taq I)
p1.8(Bgl I)
p482.6 (Xba I)
markers into a haplotype for each X chromosome,
as shown in the pedigree, and determined that the
marker pattern, DX13-1, SU4.1-8, p i . 8 - 2 ,
p482.6-2, was associated with the hemophilia A
gene in the family. They concluded that the subject, whose alleles were identified from the autoradiograms as DX13-1,2; Stl4.1-7,8; pl.8-2,2; and
p482.6-1,2, did not inherit the haplotype associated with the affected X chromosome, and therefore was not a carrier of hemophilia A.
Father
Alleles*
Mother
U
1-8
1,2
1.2
i
nui
' 1 or 7 = lack of restriction site;
2 or 8 = presence of restriction site.
Symbol definitions
I
^ B
Affected
( • )
Hemophilia A c
-o
Affected
brother
II
solve linkage analysis problems in which restriction fragment length polymorphism (RFLP) patterns had been determined for several family
members. Specific cases involved families in
which an individual member was affected with a
genetic disease such as hemophilia A or cystic
fibrosis. Students determined from the data provided whether a given family member was a
carrier for the disease in question. An example of
a case analyzed by the students is presented in the
"Student Laboratory Exercise."
In the cytogenetics laboratory exercise, students prepared slides with chromosome spreads
such as those used in karyotyping. They used a
hypotonic solution to treat suspensions of lymphocytes that had been cultured previously, fixed
them in acetic methanol, dropped them onto a
glass slide, and observed them under a phasecontrast microscope (see Figure). Students also
viewed preparations of Giemsa-stained chromosomes from lymphocytes and amniotic fluid cells
®
with a light microscope. Finally, students tried
their hand at preparing a karyotype by cutting
out photographs of Giemsa-stained metaphase
chromosomes and matching up pairs of chromosomes on a karyotype analysis form. This exercise
gave the students an appreciation for the skills
required by a cytogeneticist. Students found that
the work involved much more than the often
joked-about "paper doll cutting."
Students also were required to submit a fivepage paper on a topic related to genetics. We felt
this exercise would give them an opportunity to
obtain an in-depth understanding of the recent
knowledge acquired in genetics and a better
understanding of some of the related ethical
issues. In addition, writing the paper gave students the opportunity to exercise written communication skills, an area that educators feel needs
strengthening8 and that employers cite as one of
the most important job-related duties.9 Suggested
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VOLUME 26, NUMBER 9
LABORATORY MEDICINE
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Cell division arrested at mitosis
/
Harvest cells and add
hypotonic solution
Culture flask containing human
lymphocytes incubated with a
mitogen
V7
Drop cells onto microscope slide
Laboratory exercise
involving preparation of a chromosome spread for
karyotype analysis.
Observe with microscope
topics for papers included contributions of a
prominent scientist to genetics; a thorough discussion of a genetic disease, such as cystic fibrosis
or the fragile X syndrome; the Human Genome
Project; the polymerase chain reaction; genetics
and schizophrenia; retroviruses; oncogenes; and
regulation of genetic research.
Chromosome spread
Acknowledgments
We wish to thank Constance Stein, PhD, cytogenetics laboratory director, State University of New York Health Science
Center at Syracuse, for her thoughtful review of this paper,
and Celeste Lamberson MS, MT(ASCP), molecular diagnostics laboratory supervisor, State University of New York
Health Science Center at Syracuse, for her assistance in generating the figure shown in the "Student Laboratory Exercise."
References
Outcome
Student evaluations of the course were positive.
Students expressed appreciation for the development of a course that would prepare them for an
increasingly important area of clinical laboratory
science. Changes made for the subsequent course
offering in the fall of 1994 included the addition
of a laboratory demonstration in andrology and a
lecture on gene therapy.
Conclusion
The medical technology program at the State
University of New York Health Science Center at
Syracuse implemented its course in human
genetics in the fall of 1993. We felt that this
course would best serve our students' needs in
the area of genetics by giving them a basic foundation of genetics principles, introducing them to
laboratory applications of these concepts, and
providing them with an opportunity for handson experience with some basic genetics methodology. This was the first of several curriculum
changes recently made in our program, which we
hope will help build a strong foundation to
enable our students to meet the professional challenges that lie ahead.®
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