NR 305 Week 3 Family Genetic History
NR 305 Week 3 Family Genetic History
A Sample Answer For the Assignment: NR 305 Week 3 Family Genetic History
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.
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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.
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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.
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It is a good idea for people to express their wishes for what level of healthcare they would like to receive in case there is an event where they cannot make healthcare choices for themselves. Livings wills are one way people can provide instructions or preferences to medical professionals for what level of care they want for such events (Pevey, 2003). Living wills can include many topics, including preferences for feeding tubes, artificial breathing, intravenous fluids, resuscitation, and medication (Pevey, 2003).
Another way individuals can ensure they receive the care they want if incapacitated is to appoint a person to make healthcare choices for them: a durable power of attorney for healthcare or a healthcare proxy (Pevey, 2003). When choosing a healthcare proxy, it is critical to express your wishes to the entrusted person beforehand.
Terry Schiavo had a compelling end-of-life case that grabbed attention and struck hearts across the country due to the media coverage and extensive time the case spent in the courtroom. Schiavo seemed to be a reasonably healthy person who suddenly fell into cardiac arrest in 1990 (The New York Times, 2014). According to The New York Times (2004), The lack of oxygen caused Schiavo to experience extensive brain damage, leading to what doctors coined a persistent vegetative state (2004).
After four years of rehabilitation accomplished by Schiavo’s husband and family, doctors said there was no hope for her health to improve (2004). In 1998, legal battles ensued between Schiavo’s husband and her family on whether her feeding tube should be removed. Schiavo’s husband claimed that she told him that she would not want to live in a vegetative state (2004). Each time in court, Schiavo’s husband won: allowing doctors to end her life-prolonging measures.
Despite the court ruling to remove Schiavo’s feeding tube, the family continued to appeal, arguing that doing so was murder and inhumane (2004). The family urged that they were willing to care for Schiavo for the remainder of her life. Both sides of advocates for Schiavo’s case argued that the other side was inhumane: letting her live in that state was cruel; allowing her to die was murder (2004).
In 2005, 15 years after her collapse, the courts ruled that Schiavo’s feeding tube could be removed, with no possibility of appeal (2004). Her autopsy revealed that she had massive irreversible brain damage (2004). Schiavo’s case struck the hearts of many people and showed the importance of creating a living will or appointing a healthcare proxy before it is too late.
References
Pevey, C. (2003). Living wills and durable power of attorney for health care. In C. D. Bryant, & D. L. Peck (Eds.), Handbook of death & dying (pp. 891-898). SAGE Publications, Inc. https://dx.doi.org/10.4135/9781412914291.n89
The New York Times. (2014, April 21). Terri Schiavo documentary: The case’s enduring legacy | Retro Report | The New York Times [Video]. YouTube. https://www.youtube.com/watch?v=O-rQ3tIabvM