Genetic Family History Assessment

Genetic Family History Assessment

Cellular biology explains various changes and transformation that people undergo over some time. Chromosomes are referred to as genetic carriers. The genes are embedded within the deoxyribonucleic acid (DNA). Conversely, DNA is made up of guanine, cytosine, thymine, and adenine. These are essential nucleic acids, and their sequence provides coding for different instructions in the body. This information coded by the DNA is used to make proteins which are necessary for normal functioning, growth, and development. Humanbeings have 46 chromosomes of which 23 are derived from each parent. One pair is a sex chromosome while the rest twenty-two are non-sex, and are referred to as autosomes. There are several chromosomal disorders whose cause may be known or not and are defined  as idiopathic. Genetic conditions vary according to their inheritance pattern. There are three major inheritance versions which include autosomal dominant, autosomal recessive, and X-linked. Family health nurses need to understand the basics of genetic disorders and their impacts on families. In this paper, I will address an autosomal dominant condition called the Huntington disease, and its effects on a family after which I will highlight appropriate nursing intervention.

A three-generation family had an autosomal dominant disorder that affected some members down the line of inheritance. According to Kaakinen, Coehlo, Steele, & Robinson (2018), an autosomal dominant disease is suspected when both male and female are affected by a similar condition, as seen in the grandparents. I identified a family whose grandparents had Huntington disease. The grandmothers were 88 years and above while the grandfathers were more than 90 years old. The father of the nuclear family was at 40 who was married to a 36-year-old mother. In the second generation family, the father had the condition. In contrast, the mother’s grandparents were infected with the condition, but it only affected one member. The parents had two children, a male, and female, who were of ages 12 and 14 respectively. The grandmother on the father’s side died following a fall necessitated by dementia and tremor. She started experiencing tremors when she was forty-two-year old. This was the start of the progressive neurological degeneration. Similar problems began manifesting in the father when he was only thirty. Unlike in autosomal recessive inheritance, dominant diseases need only one copy of the gene, which contains the disease-causing mutation (Boyd, Alt-White, Anderson, Schaa, &Kasper, 2017).

According to Mendeliandescription of inheritance, the children have a 50% chance of having Huntington disease. In this case, the kid will be able to transmit it to his/her offspringbecause of the inherited copy. However, some cases might be different concerning dominant diseases. They can result from a new mutation in a child whose parents were healthy. This mostly occurs during the development of an embryo and, later, the child ends up passing the defective gene to the next generation. In our case, the grandparents wereAsian Americans, and the parents of the two children were of a similar race. It is evident that the condition is shared among the ethnic group. The father had difficulty in walking for long distances without resting because the disease weakened his muscles. This was worsened by him suffering from diabetes that has affected his innervations. The children have not yet presented with any manifestations. Moreover, the parents, especially the father, partially understand the condition. The mother is not aware because she has not stayed with her husband’s parents, and neither had she read about their medical history. The children are totally unaware of the risk of inheriting the disease. The disease presents late in life; thus, the victims are healthy before the age of onset.

The family may want to know about their health status and possible solutions to their problem. Thus, some of the questions that might be asked may include “Will our children be affected?” and “Is the disease communicable?” The mother would be eager to know whether her children are safe from the condition or not. Autosomal dominant diseases occur when the sequence of the nucleic acidsare mutated or incorrect. Thus, a defective gene is produced with nonfunctional or abnormally functioning protein. A nursing intervention that would be applicable in this family is genetic testing and counseling (Newcomb, Behan, Sleutel, Walsh, Baldwin, & Lockwood, 2019). Professionally, a family health nurse needs to intervene and explain the medical science behind the genetic condition. Additionally, the family needs counseling and education regarding Huntington disease, which is a late-onset condition (Tluczek, Twal, Beamer, Burton, Darmofal, Kracun, & Turner, 2018). Last of all, resources should be provided to ensure that the family has sufficient info.

In a nutshell, biological families share the same risk concerning genetic diseases. The inheritance of genetic defects takes different version which includes autosomal dominant, X-linked, and autosomal recessivedisorders. Genetic prevailing conditions affect a family whereby a parent with the copy passes it to the children. In this regard, Huntington disease is an autosomal dominant disease which requires the family to consider genetic testing.It is a neurological condition that manifests with lack of coordination and abnormal body movements. In a family whereby one parent has the mutant copy, their children have a chance of 50% of inheriting the gene. The clinical manifestations vary depending on the age of onset and severity of the disease. Pre- and post-test counseling is essential to support the family psychologically.

 

 

References

Boyd, A. M., Alt-White, A. C., Anderson, G., Schaa, K. L., & Kasper, C. E. (2017). Genomic Competencies for Nursing Practice: Implications for Nursing Leadership. Journal of Nursing Administration47(1), 62-67.

Hickey, K. T., Taylor, J. Y., Barr, T. L., Hauser, N. R., Jia, H., Riga, T. C., &Katapodi, M. (2018). Nursing genetics and genomics: The International Society of Nurses in Genetics (ISONG) survey. Nurse education today63, 12-17.

Kaakinen, J. R., Coehlo, D. P., Steele, R., & Robinson, M. (2018). Family health care nursing: Theory, practice, and research. FA Davis.

Newcomb, P., Behan, D., Sleutel, M., Walsh, J., Baldwin, K., & Lockwood, S. (2019). Are genetics/genomics competencies essential for all clinical nurses?. Nursing management50(1), 18-26.

Tluczek, A., Twal, M. E., Beamer, L. C., Burton, C. W., Darmofal, L., Kracun, M., … & Turner, M. (2018). How American Nurses Association Code of Ethics informs genetic/genomic nursing. Nursing ethics, 0969733018767248.

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