Competency 724.2.5: Genetic Disease Diagnosis, Screening, and Treatment - The graduate demonstrates application and integration of the
relationship of genetics and genomics to health, prevention, screening, diagnostics, and selection of treatment and analyzes personal, health,
developmental, and physical histories that consider genetic, environmental, and genomic influences and risks.
Competency 724.2.6: Advocacy and Decision Making in Genetics - The graduate recognizes issues that affect the rights of clients relative to
genetic and genomic related decision making; provides clients appropriate information or resources relative to genetic- and genomic-related
decision making; and recognizes his or her own attitudes and values related to genetics and genomics.
Objectives:
724.2.5-03: Assess a client’s knowledge, perceptions, and responses to genetic/genomic information in a given situation.
724.2.5-04: Develop a plan of care for a given patient that incorporates genetic/genomic assessment information.
724.2.5-07: Discuss appropriate prevention strategies for a given genetic disease.
724.2.5-08: Discuss appropriate Treatment Options for a given genetic disease.
724.2.6-01: Identify issues that might influence a given client’s decision making relative to genetic care or screening.
724.2.6-02: Determine the appropriate referrals for specialized genetic and genomic services for a given client in a given situation.
724.2.6-03: Provide a given client with appropriate genetic/genomic information, resources, services, and/or technologies to facilitate
decision making in a given situation.
724.2.6-04: Identify appropriate health care providers with whom to collaborate when providing genetic/genomic healthcare services in a given
situation.
724.2.6-05: Recognize how a nurse’s own attitudes or values relative to genetic/genomic science may affect care provided to clients.
724.2.6-06: Discuss the nurse’s role in advocating for client access to desired genetic/genomic services and/or resources.
724.2.6-07: Recommend an appropriate strategy to support/enhance ethical decision-making in a given situation.
724.2.6-08: Identify legal principles that address patient preferences and advocacy in a given situation.
724.2.6-09: Identify ethical principles that address patient preferences and advocacy in a given situation.
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Case Study
As a nurse in a high-risk obstetric clinic, you have just accepted the assignment of Mrs. Rita Trosack’s case management. As such, you are
responsible for determining how to best meet her needs for care upon the initial visit. From the patient’s chart you are able to ascertain the
following information:
CHART
Rita Trosack, a 43-year-old Caucasian woman, has been married for six years to her husband, Peter, a 46-year-old Caucasian man who is a
financial consultant. She was raised in a small town in the Midwest where her Irish grandparents settled in the early 1900s.
Rita went to college in Chicago, where she received a bachelor’s degree in finance, and has lived there ever since. Either her middle-class
family, who still raise cattle on the family farm, visit her in Chicago, or she goes home for a visit at least once a year usually around the
Thanksgiving holiday. After college, Rita was eager to move away from the farm, and she now enjoys the lifestyle in a big city.
Peter comes from Chicago. His family has lived there since his great grandparents emigrated from Poland just before World War I. His family
still owns a bakery in the heart of the city where many members of Peter’s family work. His mother died two years ago, and his father still
lives in their apartment located over the store.
Rita and Peter live in a condominium in downtown Chicago, close to the lake, and both work an average of 60 hours a week in the financial
district. They were both raised as Catholics; however, neither chooses to practice the religion at this time.
After about two years of trying to conceive a child, Rita missed her menstrual period, began feeling nauseated, and started dry heaving every
morning. Her breasts became tender, and she was experiencing fatigue so severe that she had to cut down her hours at the bank where she worked
as an officer. She performed an early pregnancy test, which was positive. Since her last menstrual period (LMP) began on April 20, 2008, she
calculated her due date as January 27, 2009.
Rita attended her first prenatal visit with Dr. Zimmerly in early June. He confirmed the estimated date of delivery (EDD) as late January 2009.
Due to advanced maternal age, the chorionic villus sampling (CVS) was recommended to screen for fetal genetic defects. Rita scheduled the test
for early July, began taking prenatal vitamins, and has stopped drinking her usual glass of wine with dinner. Both Peter and Rita gave up
smoking over 20 years ago, so they are happy that this is not an issue for the unborn child. The physician also gave her basic information
about nutrition and exercise, education regarding the normal signs and symptoms of pregnancy, proper seatbelt use, as well as warning signs
that might signal problems to report to a physician. Since Rita is of normal weight for her height and has always been in good health, she is
very happy about her pregnancy
In July, the result of the CVS indicated that the fetus is afflicted with Tay-Sachs disease. The couple was given a referral to a high-risk
perinatal clinic by the physician.
You are assigned as Rita’s case manager. You are to meet with the couple to gain more information.
FAMILY INTERVIEW RESULTS:
Rita and Peter are very distraught that their child has inherited Tay-Sachs disease. They do not understand how this could have happened. They
vacillate between denial and acceptance of the situation. Rita blames herself for working so hard that it “affected” the baby. Peter is very
angry and usually denies that anything will happen to the child and that the “test is wrong.” At this time, they refuse to consider the
possibility of abortion because of religious and personal beliefs.
During the interview you determine the following family history:
Rita’s parents:
Rita’s mother is 70 years old, alive and well. Her father is 72 years old, alive and well. Her two sisters are alive and well. Her maternal
grandparents are deceased—they had three children (two girls and one boy, who are all alive and well). Her paternal grandparents are deceased—
they had two children (one son who died at an early age of unknown causes, and another son who is alive and well).
Peter’s parents:
Peter’s mother died at 68 years old from pancreatic cancer; his father is 72 years old, alive and well. His maternal grandparents are deceased
—they had four children (three girls and one boy, the rest who are alive and well). His paternal grandparents are deceased—they had three
children (one son who died at an early age of unknown causes, another son who is alive and well, and a daughter who died at an early age of
unknown causes).
Introduction:
Today’s emphasis on genetic technology and its application has major implications for healthcare now and in the future. Nurses need to
understand the importance of integrating new knowledge of genetics into their practices and be able to help patients cope with the genetic
basis of disease. Nurses also need to examine their own attitudes, values, and beliefs concerning genetically acquired diseases in order to
provide adequate and ethical nursing care to these populations.
Refer to the “Genetics Case Study” (attached below) before beginning this task.
Task:
A. Write an essay (suggested length of 7 pages) in which you analyze the case study information by doing the following:
1. Identify three to five appropriate members for an interdisciplinary team from whom you can obtain information for the Trosacks’ initial
visit.
a. Explain why you chose each member of the team.
b. Explain the type of information you expect to obtain from each member
(suggested length of 2 pages).
2. Create a teaching plan (suggested length of 3 pages) for the Trosacks’ initial visit
that includes information on each of the following areas:
• Genetic diagnosis
• Treatment
• Prognosis as it applies to Tay-Sachs
• Support groups and appropriate referrals
• Pregnancy information
3. Discuss three ethical implications regarding the availability of personal genetic information (suggested length of 2 pages).
B. Write a short reflection paper (suggested length of 2 pages) in which you do the following:
1. Discuss your thoughts and feelings about the Trosacks’ choice.
2. Discuss how you would handle advocating for the couple’s decision whether you agree with it or not.
3. Discuss how ethical and legal considerations affect the couple’s decision about continuing the pregnancy. (You should include at least one
of each type.)
C. Include all in-text citations and references in APA format.
Note: Please save word-processing documents as *.rtf (Rich Text Format) or *.pdf (Portable Document Format) files.
Note: When using outside sources to support ideas and elements in a paper or project, the submission MUST include APA formatted in-text
citations with a corresponding reference list for any direct quotes or paraphrasing. It is not necessary to list sources that were consulted if
they have not been quoted or paraphrased in the text of the paper or project.
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