DNP 810 Topic 1 Family History GCU
DNP 810 Topic 1 Family History GCU
DNP 810 Topic 1 Family History GCU
Genetic and genomic training is a very important aspect of nursing. Nurses should be able to know the genetic family history of their clients to enable accurate recognition, prevention, and treatment of some diseases. This is because, genetic family history enables them to identify some patterns of health and illness experience within the family (Kaakinen et al., 2018). This paper will assess the genetic family history of Mr. and Mrs. Queen as an example to show the importance of genetic family history assessment. It will consider three generations of the family, analyze its genetic health risks, and recommends the appropriate intervention strategies.
Mr. and Mrs. Queens are African Americans parents with two children, 7-year-old Lisa and a 3-year-old Robert. The family lives in Chicago with the parents of Mr. Queen who are both alive. Mrs. Queen’s father died eight years ago and her mother is currently living in Virginia with her second husband. Mr. is 41 years old while Mrs. Queen is 38 years old. Mr. and Mrs. Queen visited our genetic clinic after being referred to us by their local pediatric geneticist. Their would-be second daughter was diagnosed with a lethal unbalanced chromosome rearrangement and died in the intensive care shortly after being born. As a result, the clinic decided to conduct a full genetic assessment of the family to check for any chromosomal imbalanced arrangement in the family.
On the first day of the assessment, Mr. Queen’s mother, Mora – now 68 years old, join them and the doctors were to surprise to see her since she was one of our patients with Huntington disease. Further genetic assessment found out that Mr. Queen’s brother, Terry, and uncle, Raphael had a rare balanced reciprocal translocation. This gave the possibility that future pregnancies for Mrs. Queen could result in Huntington disease and the chromosomal translocation. The couple also reported that their son, Robert, was diagnosed with sickle cell anemia and he has been under treatment. When Mrs. Queen’s mother, Felicity, was called in, she confirmed that her elder brother and a cousin died of sickle cell anemia at ages 22 and 26 respectively. The couple seemed concerned for their future generation and were hoping for any intervention which could remedy the situation. They know their children were at risk of sickled anemia from Mrs. Queen Family but were unaware of any chromosomal abnormality.
. In case of any heritable diseases in the family lineage, couples may weigh their options on having children. For instance, in the case of Mr. and Mrs. Queen, it is evidenced that their children and descendants are at a risk of conducting sickle cell anemia and Huntington disease. With this knowledge, the nurse would recommend that they see a genetic counselor for more help on prevention and reproduction options (Moyer, 2014). Sickle cell anemia and Huntington disease are genetic problems that are hard to prevent from being inherited by offspring once the parents have such genes (Bouchghoul et al., 2016). However, parents can explore other options such as not to have children, adopt children, or screening in the early stages of the pregnancy (Hershberger et al., 2016). According to Bouchghoul et al. (2016), the detection of sickle cell in the fetus during pregnancy is important because other options that can prevent the disease’s severity are available. For example abortion or blood transfusion in the case of sickle cell anemia.
Parents need to understand their families’ genetic health history. This enables a couple to know any genetic problem that may be in the family. Consequently, they will have the opportunity to make informed decisions on the options they have. Doctors can also advise such patients on the best treatment options and recommend the best interventions. Therefore, nurses should have genetic and genomic knowledge as well.
Reference
Bouchghoul, H., Clément, S. F., Vauthier, D., Cazeneuve, C., Noel, S., Dommergues, M., & Durr, A. (2016). Prenatal testing in Huntington disease: after the test, choices recommence. European Journal of Human Genetics, 24(11), 1535-1540.
Hershberger, P. E., Gallo, A. M., Molokie, R., Thompson, A. A., Suarez, M. L., Yao, Y., & Wilkie, D. J. (2016). Perception of young adults with sickle cell disease or sickle cell trait about participation in the CHOICES randomized controlled trial. Journal of advanced nursing, 72(6), 1430-1440.
Kaakinen, J. R., Coehlo, D. P., Steele, R., & Robinson, M. (2018). Family health care nursing: Theory, practice, and research. Philadelphia, PA: FA Davis.
Moyer, V. A. (2014). Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: US Preventive Services Task Force recommendation statement. Annals of internal medicine, 160(4), 271-281.
Taking a family history is an important step in determining current and future health needs and education. There are many tools available to complete a comprehensive health history. The Surgeon General’s Family Health History tool is part of the larger Family Health History Initiative that encourages people to talk about and write down health issues that seem to run in the family, bringing a larger focus on this important issue. This assignment allows the learner to use the tool and become familiar with this initiative.
General Guidelines:
Use the following information to ensure successful completion of the assignment:
- This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
- Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
- This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
- You are required to submit this assignment to LopesWrite. Refer to the LopesWrite Technical Support articles for assistance.
Directions:
Use the “My Family Health Portrait” to document your own family history.
Designate a proband for the pedigree with a disease or condition of interest.
Write a summary (750-1,000 words) of your findings. Include the following information:
- Discuss of the heredity patterns discovered.
- Evaluate the risk of transmission to other/new family members.
- Propose the feasibility of using this tool in your own practice.
It may be possible to earn portfolio practice immersion hours for this assignment. Enter the following after the references section of your paper:
Practice Hours Completion Statement DNP-810
I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I also have tracked said practice immersion hours in the Typhon Student Tracking System for verification purposes and will be sure all approvals are in place from my faculty and practice mentor.
Rubric Criteria
Criterion | 1. Unsatisfactory | 2. Less Than Satisfactory | 3. Satisfactory | 4. Good | 5. Excellent |
|---|---|---|---|---|---|
Documentation of Sources (citations, footnotes, references, bibliography, etc., as appropriate to as Documentation of Sources (citations, footnotes, references, bibliography, etc., as appropriate to assignment and style) | 0 points Sources are not documented. | 3.2 points Documentation of sources is inconsistent or incorrect, as appropriate to assignment and style, with numerous formatting errors. | 3.52 points Sources are documented, as appropriate to assignment and style, although some formatting errors may be present. | 3.68 points Sources are documented, as appropriate to assignment and style, and format is mostly correct. | 4 points Sources are completely and correctly documented, as appropriate to assignment and style, and format is free of error. |
Mechanics of Writing (includes spelling, punctuation, grammar, language use) Mechanics of Writing (includes spelling, punctuation, grammar, language use) | 0 points Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used. | 3.2 points Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present. | 3.52 points Some mechanical errors or typos are present but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used. | 3.68 points Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used. | 4 points Writer is clearly in command of standard, written, academic English. |
Paper Format (Use of appropriate style for the major and assignment) Paper Format (Use of appropriate style for the major and assignment) | 0 points Template is not used appropriately, or documentation format is rarely followed correctly. | 3.2 points Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent. | 3.52 points Appropriate template is used. Formatting is correct, although some minor errors may be present. | 3.68 points Appropriate template is fully used. There are virtually no errors in formatting style. | 4 points All format elements are correct. |
Discussion of the Heredity Patterns Discovered Discussion of the Heredity Patterns Discovered | 0 points Discussion of the heredity patterns discovered is not present. | 16 points Discussion of the heredity patterns discovered is present but incomplete. | 17.6 points Discussion of the heredity patterns discovered is present but done at a perfunctory level. | 18.4 points Discussion of the heredity patterns discovered is clearly present and convincing. Information presented is from scholarly but dated sources. | 20 points Discussion of the heredity patterns discovered is clearly present and insightful. Information presented is from current scholarly sources. |
Proposal of the Feasibility of Using This Tool in Practice Proposal of the Feasibility of Using This Tool in Practice | 0 points Proposal of the feasibility of using this tool in practice is not presented. | 12.8 points Proposal of the feasibility of using this tool in practice is presented but incomplete. | 14.08 points Proposal of the feasibility of using this tool in practice is presented but done at a perfunctory level. | 14.72 points Proposal of the feasibility of using this tool in practice is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used. | 16 points Proposal of the feasibility of using this tool in practice is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources. |
Argument Logic and Construction Argument Logic and Construction | 0 points Statement of purpose is not justified by the conclusion. The conclusion does not support the thesis. Argument is incoherent and uses noncredible sources. | 5.12 points Sufficient justification of thesis is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility. | 5.63 points Argument is orderly but may have a few inconsistencies. The argument presents minimal justification of the thesis. Argument logically, but not thoroughly, supports the purpose. Sources used are credible. Introduction and conclusion bracket the thesis. | 5.89 points Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression in support of the thesis from introduction to conclusion. Most sources are authoritative. | 6.4 points Clear and convincing argument that presents persuasive evidence in support of the thesis in a distinctive and compelling manner. All sources are authoritative. |
Thesis Development and Purpose Thesis Development and Purpose | 0 points Paper lacks any discernible overall purpose or organizing thesis. | 4.48 points Thesis is insufficiently developed or vague; purpose is not clear. | 4.93 points Thesis is apparent and appropriate to purpose. | 5.15 points Thesis is clear and forecast the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose. | 5.6 points Thesis is comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear. |
Evaluation of the Risk of Transmission to Other/New Family Members Evaluation of the Risk of Transmission to Other/New Family Members | 0 points Evaluation of the risk of transmission to other/new family members is not present. | 16 points Evaluation of the risk of transmission to other/new family members is present but incomplete. | 17.6 points Evaluation of the risk of transmission to other/new family members is present but done at a perfunctory level. | 18.4 points Evaluation of the risk of transmission to other/new family members is clearly present. Discussion is convincing. Information presented is from scholarly but dated sources. | 20 points Evaluation of the risk of transmission to other/new family members is clearly present. Discussion is insightful. Information presented is from current scholarly sources. |