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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: hkeizman@mail.nur.utexas.edu

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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my instructor any violations of the above standards of conduct.

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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

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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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Date Topic(s) Reading

March 4

Mid-term Exam

Blackboard assignment #5

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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.