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N323 Spring 2010
1
The University of Texas at Austin
School of Nursing N323 Genetics in Health Care
Spring 2010
Title: N323 Genetics in Health Care, Unique #59585
Faculty: Heather Keizman, RN, MSN, WHNP-BC Office: NUR 4.145 Office Hours: 10:00 AM – 1 PM
Office Phone: 512-471-3494 E-mail Address: [email protected]
Class Days/Times: Thursdays 1:00 PM - 4:00 PM in classroom NUR 1.112.
Course Description:
Developments in genetics will greatly influence health care in the 21st century. In every health care setting,
nurses will be involved with the care of individuals and families who have genetic disorders or genetic
predisposition. This course will cover the integration of genetic information into nursing practice including
ethical, legal, psychological and social issues.
Course Objectives: At the completion of this course, the student will:
1. Discuss the emerging role of genetic science in the health care delivery system.
2. Describe the role of the nurse as patient educator, advocate, and counselor in prenatal, individual,
and family genetic testing.
3. Demonstrate the ability to elicit a minimum of three generation family health history and construct a pedigree.
4. Identify clients who may benefit from specific genetic information or services based on assessment data.
5. Discuss the ethical, legal, psychological, and social implications of scientific advances in human genetics.
6. List appropriate resources for current, accurate information relevant to genetics for both clients and/or health care professionals.
Textbook: Cummings, M. R. (2008). Human heredity: Principles and issues (8th ed.). Brooks/Cole-Thompson
Learning: Pacific Grove, CA. **
** A custom version of the 8th ed. is available at the University Co-op at a reduced price.
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Teaching and Learning Strategies:
Lecture/discussion Assigned readings
Case studies that explore practice-based application and integration Computer-assisted instruction using a variety of internet sites
Videotape presentations Class assignments and case studies
Evaluation of Student Learning/Course Grade Assignment: The grade for this course will be determined in the following way:
Family Pedigree 10% Participation 10% Mid-term Exam 40% Final Exam 40%
Total 100%
90 - 100% = A 80 - 89% = B 75 - 79% = C 60 - 74% = D 59 or Below = F
Class Participation:
There will be 10 class assignments that make up the participation grade for this course. Assignments will
be posted to Blackboard on specified days (see course schedule), and are due the following class day.
Each assignment will be worth 1%, for a total of 10% of the grade.
Honor Code:
The profession of nursing has a legacy of public respect and trust. We provide specialized care for the health needs of individuals and the community with integrity, honesty, compassion, and state of the art
knowledge and skills. Learning and practicing responsible and ethical professional behavior is a vital part
of professional education. The Institutional Rules on Student Services and Activities given in the General
Information Catalog (Chapter 11) and The University of Texas at Austin’s Honor Code apply to all nursing students:
The core values of The University of Texas at Austin are learning, discovery, freedom, leadership, individual opportunity, and responsibility. Each member of the University is expected to uphold these
values through integrity, honesty, trust, fairness, and respect toward peers and community.
Additionally, the School of Nursing has its own honor code: As a student in The University of Texas at Austin’s School of Nursing, I pledge myself to be honest in all
of my student activities including, but not limited to, all of my scholastic work and interactions with patients, members of the community, faculty, and peers. Furthermore, I will not use any substance prior to
or during my interaction with patients that could alter my judgment or ability to render safe care: this includes but is not limited to any use of alcohol, illegal drugs, and prescription or over-the counter drugs that may impair my mental and/or physical abilities required to perform safe patient care. I will disclose to
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Student Conduct Policy:
Students and faculty in The School of Nursing each have responsibility for maintaining an appropriate learning environment. Faculty have the professional responsibility to treat students with understanding,
dignity and respect and to guide the teaching/learning process. Students are expected to refrain from verbal and nonverbal behaviors in the classroom and clinical that may be distracting to others, such as, but
not limited to: arriving late or leaving early, side conversations, text messaging, note passing, surfing the internet or answering e-mail on laptops, and answering cell phone or pager. Students who persistently
engage in behaviors that are disruptive to the teaching/learning process may be required to leave the setting. For further information refer to General Information, Institutional Rules on Student Services and Activities, Chapter 11: Student Discipline and Conduct.
Attendance Policy:
The student is expected to attend all classes and test sessions. Most exam questions are generated from class lecture and discussion. Exams will start at the beginning of class on the dates scheduled. In the event
of exceptional circumstances, which make it impossible for a student to be present for a scheduled test,
arrangements must be made with the facilitator in advance. If prior arrangements are not made with the
facilitator the student may not be permitted to take the test. If for unusual reasons, the student is
permitted to take the test, a 10-point raw score penalty may be incurred, at the discretion of the
instructor. Additional information on attendance policies is contained in The University of Texas at Austin
General Information Bulletin.
Students with Disabilities:
Refer to the General Information for information on Academic and Program Accommodations for Students with Disabilities or contact the Services for Students with Disabilities office in the Office of the
Dean of Students at 471-6259. The School of Nursing works to ensure that students who have
disabilities have equal access to the University’s programs and services.
If you have any questions about services or accommodations for students with disabilities, please talk with
the faculty member, the Assistant Dean for Undergraduate Programs, or the Assistant Dean for Student and Clinical Affairs or directly call the Office of the Dean of Students, Services for Students with
Disabilities, 471-6259. Students with a letter from SSD must submit this letter to the faculty member at the beginning of the semester AND make an appointment with the faculty member
in order to discuss any needed accommodations.
Scholastic Dishonesty Policy: Refer to the General Information for information on the Scholastic Dishonesty Policy Sec. 11-802.
Scholastic dishonesty includes, but is not limited to cheating, plagiarism, collusion, falsifying academic records, and misrepresenting facts. The Dean of Students Office records acts of dishonesty and notifies the School of Nursing of each incident. In addition to all of the University statements and policies relative
to academic dishonesty, the School of Nursing recognizes the strong link between honesty in academic work and professional integrity. Any act of academic dishonesty, including fabrication of reports or
records of interactions with clients, is considered incompatible with ethical standards of nursing practice. The School of Nursing does not admit students who have a record of violations to the professional
N323 Spring 2010
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sequence. Students who engage in scholastic dishonesty may be subject to dismissal and may jeopardize
their eligibility for licensure as a registered nurse.
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Building Evacuation Plan:
In Case of Emergency If you see smoke, see flames, smell something burning, or become aware of another emergency that may
require evacuation of the building, immediately, follow the steps below:
1. If possible, ISOLATE the fire or other emergency by closing the door. 2. ACTIVATE the nearest FIRE ALARM PULL STATION.
3. EVACUATE to the PRIMARY or ALTERNATE ASSEMBLY AREA. 4. Dial University Police at 911 or Dispatch 471-4441. DO NOT CALL 911 UNTIL
YOU ARE OUTSIDE THE BUILDING.
If a fire alarm is activated:
* In a calm and orderly manner, proceed to evacuate the area and follow the instructions of
the Fire Wardens or emergency response personnel. Each floor has two designated
wardens. Their role is to ensure that everyone on their floor has proceeded to the fire exit
stairs.
* Do not rush, push or panic.
* Close your office, classroom, or lab door behind you.
* EVACUATE to the designated ASSEMBLY AREAS. If your progress to the
PRIMARY assembly area is impeded, proceed to the ALTERNATE assembly area.
* DO NOT USE ELEVATORS TO EVACUATE. Descend the nearest fire exit stairs in
single file down to the GROUND LEVEL (first floor) and exit the building. Fire exit stairs are located on the southwest and northwest ends of the building.
* If there is someone who requires assistance, please provide it.
* Do not reenter the building unless directed by UTPD or an Austin Fire Department
Officer in charge.
DO NOT BLOCK ACCESS TO BUILDING FOR EMERGENCY PERSONNEL. Do not exit through the front door of the building. If you are on the second floor near the lobby, exit through the glass
doors to the patio, then out to one of the designated assembly areas.
Assembly Areas From Northwest Fire Stair Exit—proceed to first floor stairwell exit door to outside of building. DO
NOT ENTER FIRST FLOOR HALLWAY AND EXIT THROUGH GLASS DOORS. Primary assembly area is across north bridge toward tennis courts. Alternate assembly area is east end of F23
parking lot near Red River St. From Southwest Fire Stair Exit—proceed to first floor stairwell exit door to outside of building. DO
NOT ENTER FIRST FLOOR HALLWAY AND EXIT THROUGH GLASS DOORS. Primary assembly area is south to Centennial Park. Alternate assembly area is across south bridge toward tennis
courts.
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The University of Texas at Austin
School of Nursing N323 Genetics in Health Care
Spring 2010
(All reading comes from Cummings text unless otherwise noted. All articles for class are posted on Blackboard under “Course Documents”)
Date Topic(s) Reading
January 21
Genetics in Health Care: Course Orientation
The Human Genome Project
An Overview of the Role of the Nurse in Genetic Health Care
pp. 11-14 and ANA Essential
Nursing Competencies in
Genetics (pp 4, 7-9) Blackboard assignment #1
January 28
Review of Basic Genetic Concepts: Cells, Cell Division, Chromosomes, DNA, RNA,
Transcription & Translation, Chromosomal
Abnormalities, Gene Mutations, and Disease
Chapters 2 (up to p. 35), 6, 9 & 11 (up to p. 276); pp. 195-204
Blackboard assignment #2
February 4
Modes of Inheritance: Mendelian
Modes of Inheritance: Non-Mendelian
Polygenes and Multifactorial Inheritance
Chapters 4 & 5 and pp. 179-183,
276-278
Blackboard assignment #3
February 11
Family History & Pedigree Construction &
Analysis: A Nursing Assessment Tool In-class assignment
Standard Pedigree
Nomenclature & The Family History
Blackboard assignment #4
February 18
The Team Approach to Genetic Services: Roles
of Genetic Service Providers The Nurse’s Role in Genetic Screening, Testing,
and Counseling
Methods Used in Genetic Testing
pp. 340-346, 396-398
Ethical Issues in Genetic Testing
February 25
Prevention of Birth Defects Prenatal Screening and Diagnostic
Procedures The Nurse’s Role in Caring for Families
Affected by Birth Defects
pp. 35-39, 136-137, 143-145, 158-172
Impact on the Family (pp 163- 171) & Genetics in Perinatal
Nursing: Clinical Applications and Policy Considerations
Family Pedigree Assignment Due
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March 11
Newborn Screening for Metabolic Disease Newborn/Pediatric Assessment for Genetic
Disorders
pp. 231-246 Assessment of Genetic
Disorders Blackboard assignment #6
March 18
Happy Spring Break!
March 25
Genetic Disorders of Childhood Onset
TBA Blackboard assignment #7
April 1 The Genetic Basis of Cancer
Chapter 12 Hereditary Cancer Syndromes
April 8 Pharmacogenomics
The Genetic Basis of Behavior
pp. 248-251, Medication
Selection by Genotype Chapter 18
Blackboard assignment #8
April 15 Genetic Disorders of Adult Onset
TBA
Blackboard assignment #9
April 22 Gene Therapeutics
pp. 389-396
April 29 Race, Genetics, & Health Care The Meaning of Race in Health
Care and Research-Part I &
II Blackboard assignment #10
May 6
Ethical, Legal & Psychosocial Issues in Genetics
The Genetic Information Nondiscrimination Act
pp. 389-396
May 12
Final Exam (2pm-5pm)
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Web Sites Related to Genetics
These sites and others can be accessed from the School of Nursing home page by going to resources
then to Nancy's Online Resources then to subject links and then select genetics.
Genetic Alliance http://www.geneticalliance.org Search for a genetic disorder by using the "Disease InfoSearch" function. The "portal" into NLM
resources brings together, on one Web page, links to a wide range of information for patients and caregivers-from basic descriptions of a disease and its symptoms to the most current scientific research.
Gene Tests http://www.geneclinics.org/ Up-to-date information relating to genetic testing, diagnosis, management, and counseling of individuals
and families with inherited disorders. You can search by disease.
Genetics Home Reference http://ghr.nlm.nih.gov/
A guide to understanding genetic conditions.
Your Genes, Your Health http://www.ygyh.org
Dolan DNA Learning Center. A multimedia guide to selected genetic disorders.
Telling Stories- Understanding Real Life Genetics
http://www.geneticseducation.nhs.uk/tellingstories/index.asp
This resource has been developed to illustrate the impact and utility of genetics on real life health care and to help practitioners gain more understanding of genetics in professional practice.
NHGRI Talking Glossary of Genetic Terms. http://www.genome.gov/10002096
A multimedia glossary, which includes audio, visual and text.
Online Mendelian Inheritance in Man (OMIM) http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
This database is a catalog of human genes and genetic disorders.
National Cancer Institute- Cancer Genetics http://www.cancer.gov/cancertopics/prevention-genetics-causes/genetics
International Society of Nurses in Genetics http://www.isong.org/
Learn more about nursing and genetics. American College of Medical Genetics http://www.acmg.net/
Includes policy statements and practice guidelines
A World of Genetics Societies. www.faseb.org/genetics/ Links to various professional genetics associations
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Howard Hughes Medical Institute. www.hhmi.org/biointeractive
Great animations.
Kansas University Medical Center www.kumc.edu/gec/geneinfo.html Information for Genetic Professionals. Has information about specific genetic conditions and genetic
centers.
Centers for Disease Control. Genomics and Disease Prevention http://www.cdc.gov/genomics/ National Human Genome Research Institute (NHGRI) at the National Institutes of Health
http://www.nhgri.nih.gov/
National Organization for Rare Disorders (NORD) http://www.rarediseases.org/ Provides information about diseases, referrals to patient organizations, research grants and fellowships,
and advocacy for the rare-disease community,
Human Genome Project Information
http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml
Includes information on health care issues and ethics.
Texas Department of State Health Services- Genetic Services
http://www.dshs.state.tx.us/genetics/default.shtm
A resource for information about genetics and genetic services in Texas.