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 information into curricula in medical schools (Davidson and Childs 1987; Harris 1990), recent surveys (Riccardi 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 recognition in medical education in the past few years (Barrows 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., Department 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

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San Antonio has recently undergone significant reorganization 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 laboratory 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 students with experience in diagnosing and counseling patients with genetic disease. These sessions had consistently received good evaluations from the students. One of the reasons for the revision of the course was student evaluations, which described the former didactic 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 genetics was highly rated by the students. We are encouraged 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 students began their clinical rotations, since many medical students had not taken a genetics course as undergraduates. 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 tutorial. 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 biochemistry course. The required sections include principles of genetics, chromosomal abnormalities, single-gene patterns of inheritance, and genetic assessment and evaluation. If the student has difficulty with any section, the text provided with the tutorial supplements 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 series. 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 tutorial. Results of the evaluation from the second class that took the tutorial were similar to results from the

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first class. Many complaints were related to the slowness 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 overall 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 dilemmas (e.g., a chromosomal abnormality detected when an amniocentesis was performed for an X-linked disease), legal issues (e.g., wrongful-birth and wrongful-life suits), and ethical problems (e.g., abortion). Three cases - spina bifida, phenylketonuria, and Huntington 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 session. These cases included leukokoria (retinoblastoma), hypogonadism (XX male), muscular dystrophy (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 physician or specialist for providing basic genetic counseling 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 family 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 didactic presentation, to the entire class, on the relevance of genetics to general medicine and its many subspecialties. Table-of-content pages from recent journals (with the papers involving genetic diseases high-

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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 information 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, following 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 constructed a pedigree, decided whether further information was necessary to make a diagnosis, requested the appropriate tests for this, made the diagnosis, and wrote either a consultation report for the medical record or a letter either to the patient or to the referring physician, describing the course of the disease and providing appropriate genetic counseling. The pedigrees 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 smallgroup sessions, participation in the construction of the group pedigrees, and formulation of accurate information for the group letters to either the referring physician 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

to emphasize with each case were listed for the instructors. A total of 16 instructors were recruited from the departments of cellular and structural biology, obstetrics and gynecology, pediatrics, and medicine and included 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, rotating among the small groups, to guide them in their review of the literature, to help them select appropriate 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 medical 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

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Human Genetics Education Section Table I Student Evaluation for Medical Genetics Course No. OF STUDENT RESPONSES

Strongly Agree (5)

STATEMENT

Small-group problem-based learning format was educational .5 5 Introductory periods were adequate and helpful . 1 Pacing of material taught in this course seemed about right .3 0 The case material contributed to my learning . 51 Course objectives were clearly explained .......................................... Syllabus content and handouts were valuable study guides .1 Instructor's interactions were helpful ............................................... I gained a good understanding of concepts in medical genetics .21 I developed the ability to solve real problems in medical genetics .1 I developed the ability to communicate correct counseling information 19 Letter-writing exercises were valuable .............................................. Overall, this was a good course .....................................................

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 difficulties that may be encountered with fictionalized histories. 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 familiarity with each case and for anticipating student inquiries. 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 background. This problem was also experienced by Swinford and McKeag (1990), who felt that students without a strong science background had a difficult time in integrating various genetic concepts relating to

a

single

condition. It is hoped that this difficulty will be resolved at our school, with the completion of the computer tutorial by subsequent classes prior to the problem-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 emphasize, as does Baird (1989), that genetics is integral

..

.. ..

55 10 30 51

.20 17 .62 ..

21 16 19

.18 42

Agree (4)

IN

CATEGORY

Strongly Disagree (1)

Neutral (3)

Disagree (2)

6 50 14 5

3 29 4 3

5

6 3 4

4.43 4.25 4.40 4.43

38

20

7

4.09

22 32 21

6 7 3

7 8 7

4.35 4.13 4.36

89 63 107 95 2 4.14 32 14 88 76 12 5 2 76 4.64 102 95 108 33 12 986 3.91 5 4 6 99 4.41

MEAN

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 Medical 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 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 acknowledge the advice and contributions of many of our colleagues, at the University of Texas Health Science Center and

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934 throughout the United States, in the preparation of this course. We thank Ms. Betty Russell for her editorial help with publication of the syllabus. We also thank the University of Texas Health Science Center at San Antonio Library staff in the Teaching Learning Center for the efficient administration of the computer tutorial.

Appendix A Basic Concepts

Calculation of genetic risks Cytogenetics Ethical and legal issues Genetic counseling Genetic epidemiology Genetic services Inborn errors of metabolism Molecular genetics Multifactorial inheritance Prenatal diagnosis Sexual differentiation Single-gene inheritance Teratogenesis Treatment of genetic disease

Appendix B Sample Case: Multiple Congenital Anomalies (Meckel Syndrome) Referral Students receive a genetics consultation request from the Neonatal Intensive Care Unit to evaluate a patient with multiple congenital anomalies (Meckel

syndrome).

Differential Diagnosis

The differential diagnosis must include deformations, disruptions, and malformations caused by teratogens, chromosomal abnormalities, single-gene defects, multifactorial disorders, or unknown genesis. The students must recognize the disease as Meckel syndrome. Course of the Disease

Students must describe the problems, prognosis, and appropriate treatment for patients with Meckel syndrome. Risks and Counseling

Students must recognize autosomal recessive inheritance, evaluate the pedigree for individuals at risk, and describe appropriate counseling. They must recognize other risk factors in family members (e.g., advanced maternal age and previous child with a chromosomal aneuploidy). Prenatal Diagnosis

Students must determine which prenatal tests would be appropriate for Meckel syndrome, advanced maternal age, and/or the birth of a previous child with a chromosomal aneuploidy. Consultation Report

Each working group must write and turn in a consultation report that is appropriate for inclusion in the medical record References

Current references are provided in the classroom, including general textbooks and pertinent articles on the specific disease or related area.

Family History

This is found in the patient notes, which are appended to the students' case study outline. This provides information from which the students construct a pedigree. Patient and Family Evaluation

Patient data are given, which include measurements and a review of systems. Students must request a copy of the patient's cranial computed-tomography scan, cardiology consultation, abdominal ultrasound report, and chromosomal study. Students must list the specific abnormalities that are present in the patient.

References Baird PA (1989) Toward an ideal human genetics curriculum in medical schools. Am J Hum Genet 44:166-167 Barrows HS, Tamblyn RM (1980) Problem-based learning: an approach to medical education. Springer, New York Davidson RG, Childs B (1987) Perspectives in the teaching of human genetics. In: Harris H, Hirschhorn K (eds) Advances in human genetics, vol 16. Plenum, New York, pp 79-119 Harris R (1990) Physicians and other nongeneticists strongly favor teaching genetics to medical students in the United 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 health perspective. Learner Managed Designs, Lawrence KS Swinford AE, McKeag DB (1990) Incorporation of genetics into a problem-based medical school curriculum. Am J Hum Genet 47:753-758

A problem-based learning approach to teaching medical genetics.

A newly developed problem-based medical genetics course that was integrated into the fourth-year medical school curriculum of the University of Texas ...
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