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Principles of Genetics and Genomics

Principles of Genetics and Genomics

Genetic principles detail the rules governing heredity. Das (2022) details that the transmission of characteristics to offspring from the parents is a biological phenomenon integral to animal survival. It encompasses the principle of segregation, independent assortment, and dominance as postulated by the Mendelian theory of genetics and genomics (Poczai & Santiago-Blay, 2021). The three-generational genogram presented is of a 25-year-old Latino male.

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Three-Generational Family Genogram

The case presented is of a Latino male. The genographic presentation of the family history reveals a genetic pattern of the disease. Diabetes and hypertension are apparent in the family and have some genetic patterns. The paternal grandfather died of diabetic complications, his maternal grandfather died of coronary heart disease, his paternal grandmother is a known diabetic, and his uncle also has diabetes.

Genetics is a non-modifiable risk factor for diabetes and other chronic disorders. Notwithstanding, an interplay of genetic and environmental factors has been attributed to the development of type 2 diabetes. Environmental factors such as poor education on nutritious meals, the significance of physical activity, low income, lowered access to healthcare, and the neighborhood in which an individual resides can predispose them to diabetes and other chronic disorders (Beulens et al., 2021). This is usually the case in ethnic minority groups where poverty is prevalent. These groups often live in environments with less space available for physical activity and are affected by traditional problems of poor access to healthcare, nutritious food, and high illiteracy levels. This may be the case in the scenario presented.

Diabetes is a chronic metabolic disorder with a genetic predilection. Persons with close relatives having the disease are up to twice as likely to develop the disorder than their counterparts without close relatives with the disease (Cole & Florez, 2020). As evident in the case, the person in question has close relatives with diabetes and hypertension likely to develop these diseases due to a genetic predisposition to the disease.

Genetic and genomic services are valuable in addressing heritable diseases. The overarching principle behind these services is that genetics is a non-modifiable risk factor for various chronic illnesses (Zhong et al., 2021). These services equip individuals with information on genetic conditions that may affect them and their other family members. The person in the case presented may benefit from these services. Through genetic services, he can be made to understand his predisposition to diabetes and therefore guided on measures to take to lower his likelihood of developing the disorder.

References

Beulens, J. W., Pinho, M. G., Abreu, T. C., den Braver, N. R., Lam, T. M., Huss, A., Vlaanderen, J., Sonnenschein, T., Siddiqui, N. Z., Yuan, Z., Kerckhoffs, J., Zhernakova, A., Brandao Gois, M. F., & Vermeulen, R. C. (2021). Environmental risk factors of type 2 diabetes—an exposome approach. Diabetologia65(2), 263–274. https://doi.org/10.1007/s00125-021-05618-w

Cole, J. B., & Florez, J. C. (2020). Genetics of diabetes mellitus and diabetes complications. Nature Reviews Nephrology16(7), 377–390. https://doi.org/10.1038/s41581-020-0278-5

Das, S. S. (2022). Mendel paved the path toward understanding genetic diseases. Egyptian Journal of Medical Human Genetics23(1). https://doi.org/10.1186/s43042-022-00339-0

Poczai, P., & Santiago-Blay, J. A. (2021). Principles and biological concepts of heredity before Mendel. Biology Direct16(1). https://doi.org/10.1186/s13062-021-00308-4

Zhong, A., Xia, K., Hadjis, Z., Lifman, G., Njambi, L., & Dimaras, H. (2021). Opportunities and barriers for genetic service delivery in Kenya from a health personnel perspective. Journal of Community Genetics12(4), 525–538. https://doi.org/10.1007/s12687-021-00532-5

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Question 


Scenario
You recently assumed a new role as a preceptor and were asked to create a training session for new graduate orientation. Your topic for this training session is genetics and genomics in nursing practice. Training will include performing a genetic assessment, creating a three-generation family genogram with standard symbols and terminology, explaining disease patterns, describing history patterns that increase the risk of disease, and identifying possible indications for genetic and genomic services. To prepare for the training session, you complete a three-generation family pedigree and examine the influence of genetics and genomics on your family.

Principles of Genetics and Genomics

Principles of Genetics and Genomics

Instructions
Complete a three-generation family pedigree and genogram on yourself, a family member, or a friend,

In a Word document, include the following information:

Translate a family history to a three-generation family genogram with standard symbols and terminology.
Explain potential associated patterns of disease, including:
Genetic patterns
Environmental patterns
Describe family history patterns that would put clients at an increased risk of disease.
Explain indications for potential genetic and genomic services
All content must be supported by providing evidence from credible sources