SYLLABUS
College of Medicine
AY 2015-2016
Course title and number
Term (e.g., Fall 200X)
Meeting times and location
MPED 823-00T Medical Genetics
All Year
8:00 a.m.-5:00 p.m. Monday-Friday
Scott & White Cytogenetic Laboratory
Course Description and Prerequisites
The Faculty will strive to:
1.
Enable the student to recognize patient in need of genetic services.
2.
Provide an approach to evaluate patients with Genetic disease.
3.
Provide students with a basic knowledge of cytogenetics and molecular medicine.
4.
Provide students with ethical dilemmas in genetics.
http://www.tamhsc.edu/education/catalog/
Instructor Information
Elective Director
Sheila Dobin, Ph. D.
Name
254-724-3704
Telephone number
sdobin@sw.org
Email address
Name
Maria Blazo, MD
Telephone Number
254-724-3374
Email address
mblazo@sw.org
Office hours
By Appointment
S & W Memorial
Hospital, G43
Office location
2401 S. 31st Street
Temple, TX
Date Created/Revised: _____ By: _____
Coordinator
Kristen Randolph
Name
254-935-5008
Telephone number
KRANDOLPH@sw.org
Email address
Office hours
Office location
By Appointment
Pediatric Specialty
Clinic
1901 SW H.K. Dodgen
Loop
Temple, TX 76502
Learning Outcomes and Objectives
Upon completion of this course, students should be able to:
COM Competency Based Learning Objectives: http://medicine.tamhsc.edu/academicaffairs/curriculum/objectives/
Principles and Guidelines for Curriculum Development:
http://medicine.tamhsc.edu/policies/pdf/curriculum-principles-guidelines.pdf
Course Objective:
Draw a pedigree & interpret a family
history.
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2.
Recognize dysmorphic
features, testing that may be
necessary, have a basic knowledge
of information resources for
syndrome identification &
counseling that is necessary.
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Date Created/Revised: _____ By: _____
COM Competency
Based Learning
Objectives
(CBLO):
PC1: Obtain both
complete and
system-focused
medical histories
that include
psychosocial and
behavioral
determinants of
health
PC3: Develop
appropriate
differential
diagnoses by
integrating
collected clinical
information
MK1:
Demonstrate
knowledge of
normal human
structure and
function at the
organ-system,
tissue, cellular
and molecular
level; and of the
interaction of
human systems in
maintaining
homeostasis
MK2: Describe
the basic
mechanisms
involved in the
causation of
human disease
and their
influence on
clinical
presentation and
therapy
Taught (T)
and/or
Evaluated (E):
Evaluation:
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
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Interpret cytogenetic reports and
molecular reports.
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Date Created/Revised: _____ By: _____
PC2: Perform
both complete
and systemfocused physical
examinations
PC8:
Demonstrate an
understanding of
the principles
involved in the
care of patients
across the
spectrum of the
human life cycle
ICS2: Discuss
diagnostic and
treatment options
in a manner
comprehensible
to the patient
ICS3:
Communicate
effectively with
patients, patients'
family members,
peers, and other
members of the
health care team
ICS4: Educate
patients, patients'
family members,
peers, and other
members of the
health care team
at an appropriate
level using
appropriate
technologies
PBLI5: Select,
appraise, and
utilize evidence
from scientific
studies related to
clinical questions
and patients'
health problems
PC5: Interpret the
results of
commonly used
laboratory and
radiologic studies
MK1:
Demonstrate
knowledge of
normal human
structure and
function at the
organ-system,
tissue, cellular
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
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4.
Identify indications for
referrals for individuals in need of
prenatal genetic, pediatric, cancer
and adult counseling issues.
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Date Created/Revised: _____ By: _____
and molecular
level; and of the
interaction of
human systems in
maintaining
homeostasis
MK2: Describe
the basic
mechanisms
involved in the
causation of
human disease
and their
influence on
clinical
presentation and
therapy
PC1: Obtain both
complete and
system-focused
medical histories
that include
psychosocial and
behavioral
determinants of
health
PC4: Develop
contextual and
individualized
diagnostic and
treatment plans
based upon
collected clinical
information
MK2: Describe
the basic
mechanisms
involved in the
causation of
human disease
and their
influence on
clinical
presentation and
therapy
ICS2: Discuss
diagnostic and
treatment options
in a manner
comprehensible
to the patient
ICS3:
Communicate
effectively with
patients, patients'
family members,
peers, and other
members of the
health care team
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
ICS4: Educate
patients, patients'
family members,
peers, and other
members of the
health care team
at an appropriate
level using
appropriate
technologies
Click here to enter text.
Taught AND
Evaluated
Clinical
Performance
Rating/Checklist
Textbook and/or Resource Material
Course materials are available online 24/7.
1. Presentation of the patients to faculty and participate in the discussion of management and
counseling of patients with inherited disorders.
2. Participation in monthly cytogenetic conference, attendance at an IRB meeting, attendance at tumor
boards.
3. Evaluation of children in the general genetic clinic and NICU.
4. Rotation in the cytogenetics laboratory to include observing cytogenetic techniques used in the
diganosis of children with multiple congenital abnormalities and techniques used in cancer for diagnosis,
prognosis and treatment
5. Generation of clinical cytogenetic reports to include standard cytogenetics, FISH (oncology and
congenital) and microarray
6. Correlation of reports with clinical data.
Textbooks (Required and Recommended Resources)
The following books and case study materials will be used in this course.
1.
Genetic Texts are available in the Genetics office and Laboratory office.
a.
Smith Recognizable Patterns of Malformations.
b.
Management of Genetic Syndromes.
c.
Others as required.
2.
Current Genetics Journals and Literature files
3.
Internet genetic web resources
a.
OMIM www.ncbi.nlm.nih.gov/omim.
b.
GENE TESTS www.genetests.org.
c.
NCBI Gene Reviews www.ncbi.nlm.nih.gov/books/NBK1116.
d.
Atlas of Genetics and Cytogenetics in Oncology and Hematology
http://atlasgeneticsoncology.org/.
4.
Other sources that may be provided by faculty and cytogenetic technologists.
Grading Policies
GRADING SCALE
Satisfactory
70-100
Unsatisfactory
69 and below
Should the course director determine remediation is required, the remediation plan will be at the
discretion of the course director and on a case by case basis depending on the issues involved.
Remediation plans could entail some (or all) of the following examples: Additional clinical shifts,
research papers, presentations, article reviews, exams, directed reading, web-based modules, etc. If the
Date Created/Revised: _____ By: _____
student performance results in a failure of the elective, it will be recommended that the elective be taken
again in its entirety.
Attendance and Make-up Policies
http://student-rules.tamu.edu/rule07
Course Topics, Calendar of Activities, Major Assignment Dates
Medical Genetics is a 4 week rotation. Student will adhere to the same work schedule as the attending
and/or resident. There will be time in both the clinical genetic area and the laboratory. Fifty percent of
the time will be spent in clinic and 50% of time will be spent in the laboratories.
XII. Patient Encounter Logs: (N/A if this does not apply)
Students are required by TAMU COM to log all patient encounters during this elect
Other Pertinent Course Information
Policies and Procedures (generic information for all campuses)
Professionalism and Ethics: Students are expected to uphold and adhere to the ethical and behavioral
standards of the profession of medicine. Information /sources on ethics in pediatrics and general
medicine are included below.
Resources:
Texas A&M Health Science Center Medical Student Handbook
Recommended core ethical values at WWW.niee.org/case_of_the_month/ethics3.cfm
AMA Principle of Medical Ethics at www.ama-assn.org/ama/pub/category/2512.html
AMA virtual Mentor at www.ama-assn.org/ama/pub/category/3040.html
Bioethics in Pediatric Practice at www.emedicine.com/PED/topic2769.html
Dress and Appearance: In order to be accepted as a member of the health care team, it is important to
assume the same basic manner of dress, appearance and conduct as the other members of the team.
A picture name identification tag must be readily visible on your shirt or coat collar, with introduction of
your full name including “Ms.” or “Mr.” or “medical student”. If the parent/patient refers t the student as
a “doctor”, it is the student’s duty to correct this error. One should not misrepresent his/her role.
Remembering that you are serving as a role model for children should help one determine an
appropriate appearance. With approval from you attending, scrubs may be worn only in the PICU, NICU
or on call after 5:00 pm. They are not ideal attire for outpatient clinic visits.
Resource: Texas A&M Health Science Center Medical Student Handbook.
Americans with Disabilities Act (ADA)
Date Created/Revised: _____ By: _____
The Americans with Disabilities Act (ADA) is a federal anti-discrimination statute that provides
comprehensive civil rights protection for persons with disabilities. Among other things, this legislation
requires that all students with disabilities be guaranteed a learning environment that provides for
reasonable accommodation of their disabilities. If you believe you have a disability requiring an
accommodation, please contact Disability Services, in Cain Hall, Room B118, or call 845-1637. For
additional information visit http://disability.tamu.edu
Any student with a disability who needs accommodation should inform the instructor at the beginning of
the course.
Academic Integrity
For additional information please visit: http://aggiehonor.tamu.edu
“An Aggie does not lie, cheat, or steal, or tolerate those who do.”
College of Medicine
Professionalism and integrity Statement (Academic Honesty and Plagiarism)
All College of Medicine students are required to comply with the student code of conduct and the academic integrity and
honesty standards published in each component’s Student Handbook. Disciplinary action will be taken in accordance with
the policies of each component. Students found guilty of Academic Dishonesty will receive an “F”/Unsatisfactory in the
course. For a full list of actions qualifying as academic dishonesty, please review the College of Medicine Student
Handbook at http://medicine.tamhsc.edu/student-affairs/docs/handbook.pdf.
According to the Aggie Honor System Office, plagiarism is defined as the appropriation of another person's ideas,
processes, results, or words without giving appropriate credit. Intentionally, knowingly, or carelessly presenting the work of
another as one’s own (i.e., without crediting the author or creator). Plagiarism and other academic misconduct definitions
can be viewed on the Aggie Honor System Office website;
http://aggiehonor.tamu.edu/RulesAndProcedures/HonorSystemRules.aspx#definitions.
E-mail Access and FERPA
The College of Medicine is communicating all official information to students through the students’ TAMHSC e-mail
accounts. Please check the account frequently during the semester for updates.
This course is supported with web-based and/or e-mail activities. In order to take advantage of these additional resources
and participate fully in the course, you have been assigned an e-mail address by the Texas A&M Health Science Center.
This e-mail address is for internal use only, so that faculty may communicate with you and the entire class. By registering
for this course, you are agreeing to allow your classmates to have access to this e-mail address. Should you have any
questions, please contact the TAMU’s Office of the Registrar at 979-845-1031.
The Family Educational Rights and Privacy Act of 1974 (FERPA), which the HSC complies fully, is intended to protect the
privacy of education records, to establish the rights of students to inspect and review their education records and to
provide guidelines for the correction of inaccurate or misleading data through informal and formal hearings. Students also
have the right to file complaints with the Family Educational Rights and Privacy Act Office of the Department of Education
in Washington, D.C., concerning alleged failures by the HSC to comply with the act.
Mistreatment of Students
The College of Medicine is committed to providing a positive learning environment in which students can meet their
academic goals based on mutual respect in the teacher/learner relationship. Both parties must be sensitive to the needs
of others and differences in gender, race, sexual orientation, religion, age or disability. As outlined in the Student
Handbook under the section titled Standards of Conduct in the Teacher-Learner Relationship, belittlement, intimidation
and humiliation are unacceptable for effective learning and undermine self-esteem. Breaches involving student
mistreatment may result in a faculty or staff member being sanctioned or the loss of faculty and/or staff appointment.
These policies address student mistreatment involving College of Medicine employees, residents, affiliate staff, or
Date Created/Revised: _____ By: _____
patients. Mistreatment may be reported through the College of Medicine telephone hotline, 1(855)-397-9835 or through
an online form at http://medicine.tamhsc.edu/current/student-mistreatment-form.html. For a full list of reporting avenues,
please refer to the Student Handbook under the Mistreatment Policy.
Exposure and Occupational Hazard
The Needle Stick Policy and Bloodborne Pathogen Exposure information for Medical Students may be accessed in the
Student Handbook at: http://medicine.tamhsc.edu/student-affairs/docs/handbook.pdf
Note: More information is available on the aforementioned topics to all students on the College of Medicine website.
Date Created/Revised: _____ By: _____