Am. J. Hum. Genet.

51:930-935, 1992

A Problem-based Learning Approach

to Teaching Medical Genetics
HUMAN
Charleen M. Moore and Don R. Barnett -IGENETICS
HEDUCATION
Department of Cellular and Structural Biology,
University of Texas Health Science Center, San Antonio

Summary
A newly developed problem-based medical genetics course that was integrated into the fourth-year medical
school curriculum of the University of Texas Health Science Center at San Antonio is described. To provide
a basic genetic background for the clinical rotations, a supplemental computer tutorial is required during the
second year. These two formats prepare the medical students to recognize genetic diseases, to provide basic
genetic counseling in their daily practice, and to appropriately refer patients to genetic specialists.

Introduction
Although the dramatic advances in genetics in the past
decade necessitate the incorporation of this new infor-
mation into curricula in medical schools (Davidson
and Childs 1987; Harris 1990), recent surveys (Ric-
cardi and Schmickel 1988) indicate that little progress
has been made in improving the position of courses in
human genetics in the curriculum. Nonetheless, the
number of formal courses in genetics has increased,
and innovative ways of presenting genetic concepts
have been developed. Problem-based learning has
been one of the new approaches that has gained recog-
nition in medical education in the past few years (Bar-
rows and Tamblyn 1980, pp. 156-181; Davidson and
Childs 1987; Swinford and McKeag 1990). A newly
developed medical genetics course is one of the first at
the University of Texas Health Science Center at San
Antonio to use this approach. This is in contrast to
Swinford and McKeag (1990), who introduced their
genetics instruction into a completely problem-based
medical curriculum.
The University of Texas Health Science Center at
Received August 26, 1991; revision received February 27, 1992.
Address for correspondence: Charleen M. Moore, Ph.D., De-
partment of Cellular and Structural Biology, University of Texas
Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX
78284-7762.
i 1992 by The American Society of Human Genetics. All rights reserved.
0002-9297/92/5104-0047$02.00
930
San Antonio has recently undergone significant reor-
ganization of the medical school curriculum. As a part
of the change, the medical genetics course was moved
from the first year to the spring semester of the fourth
year. The first-year course had been presented in a
primarily didactic format with supplemental labora-
tory sessions based on a problem-oriented design. To
fit the schedule of the fourth-year students, the new
course was designed with 4 h of lectures given to the
entire class of 164 students, followed by 16 h (four
sessions of 4 h each) in which the students were divided
into six small groups of approximately 25 per session
and, further, into working groups of five or six for the
problem-based learning experience. The new course
format was based entirely on the laboratory sessions
designed for the previous course, to provide the stu-
dents with experience in diagnosing and counseling
patients with genetic disease. These sessions had con-
sistently received good evaluations from the students.
One of the reasons for the revision of the course was
student evaluations, which described the former di-
dactic periods as too research oriented and lacking
clinical relevance. Application of the problem-based
format to the new course was perceived as completely
relevant to the students' future medical practice. The
format of problem-oriented teaching of medical genet-
ics was highly rated by the students. We are encour-
aged by the reception of the first presentation of the
medical genetics course in this format, and we present
here a summary of the course.
Human Genetics Education Section
Course Description
One of the basic challenges to the new curriculum
was the lack of a genetics background when the stu-
dents began their clinical rotations, since many medi-
cal students had not taken a genetics course as under-
graduates. To teach basic genetic concepts to students
prior to their entering the clinical rotations, and to
prepare the students for the medical genetics course in
the fourth year, a computer tutorial was initiated in the
second year of medical school. Additional computer
equipment was purchased for the library's Teaching
Learning Center to accommodate this genetics tu-
torial.
Computer Tutorial in the Second Year
The computer tutorial we chose to use is Genetic
Applications, which comes with an accompanying
text (Smith and Scott 1988), and which was developed
by the genetics unit at the University of Colorado
Nursing and Medical School. This tutorial is divided
into 10 separate sections, which gives the students
flexibility in scheduling time for the tutorial, since the
course can be broken into discrete units for self-paced
instruction. Two sections are optional for our tutorial,
since these topics are related to DNA and protein
structure and function, which are covered in the bio-
chemistry course. The required sections include prin-
ciples of genetics, chromosomal abnormalities, sin-
gle-gene patterns of inheritance, and genetic assessment
and evaluation. If the student has difficulty with any
section, the text provided with the tutorial supple-
ments the computer instruction. It took the average
student about 6 h to complete the tutorial. Those who
had not previously taken a genetic course took up to
12 h. Of the first group who completed the computer
instruction when it was only a recommended option,
89 (85%) of those students who had turned in an
evaluation had taken a previous course in genetics,
while 16 (15% ) had not. The evaluation indicated that
most students (72%) thought that the instruction was
helpful in learning the concepts and terminology of
genetics. Only seven students indicated that they had
problems with the computer or the instructional se-
ries. After the tutorial was made mandatory, students
were given the option of taking a pretest to omit the
computer instruction. Of the 30 who elected to take
the test, only 5 passed with a score of 80% or higher.
The remaining 25 were required to complete the tuto-
rial. Results of the evaluation from the second class
that took the tutorial were similar to results from the
, 931
first class. Many complaints were related to the slow-
ness of the computer program using separate disks.
The tutorial has now been programmed on hard disk,
which has improved the speed of the program and
has facilitated the administration of the tutorial to the
present class.
Problem-based Medical Genetics Course
in the Fourth Year
Objectives had been developed for the course over-
all and for each case individually to ensure that the
basic concepts of medical genetics were included. The
major concepts addressed are listed in Appendix A.
Each had several subdivisions that were evaluated for
each case. The cases were not only selected to cover
the basic concepts but also to bring up counseling di-
lemmas (e.g., a chromosomal abnormality detected
when an amniocentesis was performed for an X-linked
disease), legal issues (e.g., wrongful-birth and wrong-
ful-life suits), and ethical problems (e.g., abortion).
Three cases - spina bifida, phenylketonuria, and Hun-
tington disease -were chosen as examples to present
during the didactic (i.e., lecture) sessions. Eight cases
were used during the group sessions, two per 4-h ses-
sion. These cases included leukokoria (retinoblas-
toma), hypogonadism (XX male), muscular dystro-
phy (Duchenne), dwarfism (achondroplasia), multiple
congenital anomalies (Meckel syndrome), fragile-X
syndrome, Down syndrome, and cystic fibrosis. These
cases were chosen to prepare the primary-case physi-
cian or specialist for providing basic genetic counsel-
ing and also for appropriately referring patients for
more extensive evaluations.
A student syllabus was developed that contained an
introduction composed of class orientation material,
the basic concepts of genetic counseling, taking a fam-
ily history, pedigree symbols, a questionnaire for
obtaining information for prenatal diagnosis, basic
characteristics of Mendelian patterns of single-gene
inheritance, definitions of genetic terms, and a list of
general references that were used during the course
and that the students might wish to have for their office
practice. A textbook was not required, but the list
of references included several that were of particular
value for those students who had not had a formal
genetics course.
The fourth-year course began with a general didac-
tic presentation, to the entire class, on the relevance
of genetics to general medicine and its many subspeci-
alties. Table-of-content pages from recent journals
(with the papers involving genetic diseases high-
932 Q
lighted), current lay magazines, newspapers, and
other popular periodicals were used to demonstrate
that genetics is seen in everyday medical practice and
is not limited to rare syndromes. Also, the point was
emphasized that the general public is more aware and
knowledgeable about genetic diseases. Legal cases in
which lack of diagnosis or failure to provide informa-
tion about genetic diseases had led to litigation against
the physician were reviewed. Three cases were then
presented, in didactic format, as examples of the type
of problems the students would solve during the
course. Faculty members discussed each case, follow-
ing the outline that the students would use in their
working groups.
For the small-group sessions, background material
for each case was furnished in the syllabus, which
included a referral from a physician introducing the
family or individual to be counseled, a description of
the office visit, information about the family history,
laboratory studies (if available), a description of the
physical examination (if appropriate), and questions
that the group had to consider when making the
differential diagnosis and when providing genetic
counseling. References were listed, which the students
could review prior to the class period and which were
also provided in the classroom along with a number
of genetics texts. For an outline of a sample case, see
Appendix B.
From the initial information, each group con-
structed a pedigree, decided whether further informa-
tion was necessary to make a diagnosis, requested the
appropriate tests for this, made the diagnosis, and
wrote either a consultation report for the medical re-
cord or a letter either to the patient or to the referring
physician, describing the course of the disease and
providing appropriate genetic counseling. The pedi-
grees and consultation reports or letters were turned
in at the next session. The course was graded as pass/
fail. Attendance at the didactic periods and small-
group sessions, participation in the construction of the
group pedigrees, and formulation of accurate infor-
mation for the group letters to either the referring phy-
sician or the patient were required for a passing grade.
An instructor's manual was also developed, which
contained an annotated version of the information
given to the students. This included a brief description
of the genetic disease, its inheritance pattern, course of
the disease describing the major problems, additional
tests that should be ordered, calculated risks for each
member of the pedigree, and the appropriate genetic
counseling that should be provided. The major points
Moore and Barnett
to emphasize with each case were listed for the in-
structors.
A total of 16 instructors were recruited from the
departments of cellular and structural biology, obstet-
rics and gynecology, pediatrics, and medicine and in-
cluded full-time faculty, postdoctoral fellows, and
graduate students, all of whom had clinical or research
backgrounds in human genetics. Each instructor spent
a minimum of 12 h of contact in 1 wk of the course,
participating in three sessions that involved two of the
eight student cases. Three instructors were present for
all ofthe group sessions, to provide continuity. Several
training sessions were held prior to the course, for the
instructors to become familiar both with the genetic
principles to be presented and with the subtleties of
each case. The instructors acted as facilitators, rotat-
ing among the small groups, to guide them in their
review of the literature, to help them select appro-
priate tests, and to lead them back from far-reaching
tangents. To a large extent, however, the groups acted
independently in their discussions and evaluations of
the cases.
Course Evaluation
In order to obtain feedback from the students about
their reaction to the new course format and timing
of the course, we asked each student to complete a
questionnaire evaluating and commenting on the
course. Of the 164 students taking the class, 158
(96%) responded. Table 1 gives the distribution of the
responses. There were 50 individual comments from
the students. Most of these were positive, relating to
the course content and format. Only one comment
was negative, about the timing in the last term of the
fourth year.
Discussion
The students' reaction to this change in the medical
genetics course was gratifying. The responses in the
course evaluation were as positive as any of the medi-
cal school course evaluations and were certainly better
than any received for the former didactic genetics
course. The students showed a great deal of initiative
and interest in the cases, many drawing the pedigree
and reading the references prior to the classes.
It was found that if actual examples from patient
files were used to develop the cases, many ambiguities
could be avoided. As is always the case in teaching,
the students are able to think of many more possible
answers than the faculty developing the course had
Human Genetics Education Section 933

Table I
Student Evaluation for Medical Genetics Course
No. OF STUDENT RESPONSES IN CATEGORY
Strongly Strongly
Agree Agree Neutral Disagree Disagree
STATEMENT (5) (4) (3) (2) (1) MEAN

Small-group problem-based learning format was educational .5 5 .. 55 89 6 3 5 4.43

Introductory periods were adequate and helpful . 1 10 63 50 29 6 4.25
Pacing of material taught in this course seemed about right .3 0 .. 30 107 14 4 3 4.40
The case material contributed to my learning . 51 .. 51 95 5 3 4 4.43
Course objectives were clearly explained .......................................... .20 2 4.14
32 14 88
Syllabus content and handouts were valuable study guides .1 17 76 38 20 7 4.09
Instructor's interactions were helpful ............................................... .62 12 5 2 76 4.64
I gained a good understanding of concepts in medical genetics .21 .. 21 102 22 6 7 4.35
I developed the ability to solve real problems in medical genetics .1 16 95 32 7 8 4.13
I developed the ability to communicate correct counseling information 19 19 108 21 3 7 4.36
Letter-writing exercises were valuable .............................................. .18 33 12 986 3.91
Overall, this was a good course ..................................................... 42 5 4 6 99 4.41

anticipated. This proved to be true in the first year of
this course. The small-group problem-based format
makes this point quite apparent, since it allows the
students more leeway in their responses to the cases.
True case histories can eliminate some of the diffi-
culties that may be encountered with fictionalized his-
tories.
The development of a successful problem-based
learning program greatly depends on a dedicated and
well-trained faculty. The orientation sessions for the
instructors proved to be essential for developing famil-
iarity with each case and for anticipating student in-
quiries. Most students had a positive response to the
instructors' knowledge of the cases and to the basic
genetic information that they could impart. However,
several students felt frustrated with the problem-based
format because of their lack of a basic genetics back-
ground. This problem was also experienced by Swin-
ford and McKeag (1990), who felt that students with-
out a strong science background had a difficult time in
integrating various genetic concepts relating to
condition. It is hoped that this difficulty will be re-
solved at our school, with the completion of the com-
puter tutorial by subsequent classes prior to the prob-
lem-based learning experience. Evaluations by the
next class should give data for comparison with the
first group's comments.
Several changes in the course were suggested by the
student responses. The introductory lecture will em-
phasize, as does Baird (1989), that genetics is integral
to the practice of medicine, regardless of specialty.
The review of the example cases previously covered in
the introductory lecture will be carried out in more
detail, so that the students will have a better feeling for
the organization of the course. Each group of students
will be asked to write a consultation report or a letter
to the referring physician, including a pedigree and
incorporating answers to specific questions presented
in their syllabus.
The success of the new medical genetics course will
be difficult to assess by the students' achievements on
the national boards or on the new United States Medi-
cal Licensure Examination, since genetics questions
are found in virtually all sections of both Phase I and
II and are difficult to analyze independently. However,
with the positive response of the medical students to
this form of presentation, we are confident that this
will improve their retention of knowledge, their
achievement on exams, and especially their ability to
recognize genetic diseases and to provide appropriate
a single counseling and referral for their patients.
Acknowledgments
We express our deep thanks to the instructors and the
University of Texas Health Science Center at San Antonio
Medical School Class of 1991 for making our first attempt
at problem-based learning a success. We gratefully acknowl-
edge the advice and contributions of many of our colleagues,
at the University of Texas Health Science Center and
934 Moore and Barnett

throughout the United States, in the preparation of this Differential Diagnosis

course. We thank Ms. Betty Russell for her editorial help The differential diagnosis must include deforma-
with publication of the syllabus. We also thank the Univer- tions, disruptions, and malformations caused by te-
sity of Texas Health Science Center at San Antonio Library
staff in the Teaching Learning Center for the efficient admin- ratogens, chromosomal abnormalities, single-gene de-
istration of the computer tutorial. fects, multifactorial disorders, or unknown genesis.
The students must recognize the disease as Meckel
syndrome.
Appendix A Course of the Disease
Basic Concepts Students must describe the problems, prognosis,
Calculation of genetic risks and appropriate treatment for patients with Meckel
Cytogenetics syndrome.
Ethical and legal issues
Genetic counseling Risks and Counseling
Genetic epidemiology Students must recognize autosomal recessive inheri-
Genetic services tance, evaluate the pedigree for individuals at risk, and
Inborn errors of metabolism describe appropriate counseling. They must recognize
Molecular genetics other risk factors in family members (e.g., advanced
Multifactorial inheritance maternal age and previous child with a chromosomal
Prenatal diagnosis aneuploidy).
Sexual differentiation
Single-gene inheritance Prenatal Diagnosis
Teratogenesis Students must determine which prenatal tests would
Treatment of genetic disease be appropriate for Meckel syndrome, advanced ma-
ternal age, and/or the birth of a previous child with
a chromosomal aneuploidy.
Appendix B
Consultation Report
Sample Case: Multiple Congenital Anomalies
(Meckel Syndrome) Each working group must write and turn in a con-
sultation report that is appropriate for inclusion in the
Referral medical record
Students receive a genetics consultation request References
from the Neonatal Intensive Care Unit to evaluate a
patient with multiple congenital anomalies (Meckel Current references are provided in the classroom,
syndrome). including general textbooks and pertinent articles on
the specific disease or related area.
Family History
This is found in the patient notes, which are ap- References
pended to the students' case study outline. This pro-
vides information from which the students construct Baird PA (1989) Toward an ideal human genetics curricu-
a pedigree. lum in medical schools. Am J Hum Genet 44:166-167
Barrows HS, Tamblyn RM (1980) Problem-based learning:
Patient and Family Evaluation an approach to medical education. Springer, New York
Davidson RG, Childs B (1987) Perspectives in the teaching
Patient data are given, which include measurements of human genetics. In: Harris H, Hirschhorn K (eds) Ad-
and a review of systems. Students must request a copy vances in human genetics, vol 16. Plenum, New York, pp
of the patient's cranial computed-tomography scan, 79-119
cardiology consultation, abdominal ultrasound re- Harris R (1990) Physicians and other nongeneticists strongly
port, and chromosomal study. Students must list the favor teaching genetics to medical students in the United
specific abnormalities that are present in the patient. Kingdom. Am J Hum Genet 47:750-752
Human Genetics Education Section
Riccardi VM, Schmickel RD (1988) Human genetics as a
component of medical school curricula: a report to the
American Society of Human Genetics. Am J Hum Genet
42:639-643
Smith AN, Scott JA (eds) (1988) Genetic applications: a
935
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Swinford AE, McKeag DB (1990) Incorporation of genetics
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