DNP-810A-O500 Emerging Areas of Human Health Topic 2: Genetics I

Family History Comprehensive Nursing Paper Example

Discuss heredity patterns discovered

The inheritable conditions affecting the family include hypertension, breast cancer, hyperlipidemia, polycystic ovarian disease, fibroid tumors, sickle cell trait, and hepatitis C. Autosomal dominant and autosomal recessive patterns of inheritance are evident in the family. Padda et al. (2023) observe that autosomal dominant inheritance constitutes a type of inheritance involving the passage of a copy of the mutated DNA from parents to children. The inheritance pattern affects men and women equally, with children whose parents carry a mutated gene exhibiting a 50% chance of inheriting the condition. In this case, hyperlipidemia, hypertension, Fibroid tumors, and polycystic ovarian disease affecting this family are inherited through autosomal dominant patterns. Leren and Bogsrud (2021) illustrate hypercholesterolemia (ADH) is the inheritable form of hyperlipidemia associated with LDLR, APOB, or PCSK9 gene mutations. Individuals with hypercholesterolemia have a low risk of mutation affecting both copies of the LDLR, APOB, or PCSK9 genes. However, the risk increases when both parents have mutated genes. For instance, based on the family history, only the mother is a carrier of hyperlipidemia, hence the inheritance of a less severe form of the disease (Leren & Bogsrud, 2021).(Family History Comprehensive Nursing Paper Example)

Similarly, fibroid tumors are also inheritable through autosomal dominant patterns, whereby the child’s mother and grandmother can pass the condition to their female children. The disease results from TERT, TERC, and OBFC1 gene mutations (Abduljabbar, 2021). Additionally, polycystic ovarian disease is also inherited through an autosomal dominant pattern. Combs et al. (2021) explain that polycystic ovarian syndrome occurs due to the inheritance of mutated aromatase genes, such as the CYP11A1 and CYP11B2. Consequently, the autosomal recessive pattern was also evident in the family history. Autosomal recessive inheritance occurs through the passage of a single mutated gene from each parent to the children (Vlachadis & Vrachnis, 2022). Sickle cell is inherited through an autosomal recessive pattern, whereby mutation affects both cells’ hemoglobin beta gene (HBB) genes (Vlachadis & Vrachnis, 2022). Based on the family history, both parents were sickle cell carriers but showed no signs of the disease. Similarly, Hepatitis C is also inherited through an autosomal recessive pattern, whereby mutations in the H1069Q and ATP7B gene result in a chronic form of the disease (Nicastro et al., 2021).(Family History Comprehensive Nursing Paper Example)

Identify the first person in the family who presented with the disease or condition.

The identified inheritable conditions (hypertension, breast cancer, hyperlipidemia, polycystic ovarian disease, fibroid tumors, sickle cell trait, and hepatitis C) were passed on through the family’s lineage, from the grandparents to the children. For instance, the children’s grandparents, Grandma Betty and Grand Daddy from the mother’s family and Granddad from the father’s family, were the first to present with hypertension, hyperlipidemia, and sickle cell traits. Additionally, the child’s parents and grandparents were carriers of polycystic ovarian cancer, fibroid tumors, breast cancer, and Hepatitis C.(Family History Comprehensive Nursing Paper Example)

Evaluate the transmission risk to other family members.

The children are more likely to transmit the identified conditions to their offspring. In this case, the siblings have a 25% risk of rearing children with the identified conditions if they get married to partners who are carriers or exhibit symptoms of the conditions (Rogers, 2022). For example, if a sibling presenting with sickle cell traits marries a spouse with the same traits, then their chances of rearing children with sickle cell anemia are 25%. Their children would also exhibit a 50% chance of carrying the gene for sickle cell traits. Additionally, if the sibling with a sickle cell trait (HBAS) marries a spouse without sickle cell hemoglobin (HbAA), they have a zero potential of siring children with sickle cell anemia. Therefore, Rogers (2022) observes that the risk of transmitting the inheritable conditions to other family members increases when the siblings engage with individuals exhibiting the disease symptoms or are carriers.(Family History Comprehensive Nursing Paper Example)

Propose how using this tool will help you and your family stay healthy.

The Surgeon General’s Family Health History tool can help individuals stay healthy by identifying an individual’s risk of inheritable diseases (Stein & Luebbers, 2019). It displays the diseases across the family line, which can inform genetic testing of an individual to determine their risk of specific diseases, making it easy to devise early interventions for its management. Besides, Stein and Luebbers (2019) explain that the tool makes it easy to make appropriate spousal choices by enabling individuals to make appropriate choices of partners. People who are carriers of a specific condition, such as sickle cell anemia, may opt to marry spouses without the disease to reduce the chances of rearing children with the condition. In this case, genetic analysis of the spouses can accurately assess their risk of transmitting the condition to children, which could reduce the prevalence of the disease. Additionally, it can help develop rapport with patients, making it easy for health practitioners to identify patients’ motivations and concerns, which are integral in providing improved care (Stein & Luebbers, 2019). Therefore, the family health history tool is an essential tool that families should adopt to enhance healthcare maintenance.(Family History Comprehensive Nursing Paper Example)

References

Abduljabbar, H. (2021).Fibroids. United Kingdom: IntechOpen.(Family History Comprehensive Nursing Paper Example)

Combs, J. C., Hill, M. J., & Decherney, A. H. (2021). Polycystic ovarian syndrome genetics and epigenetics. Clinical Obstetrics and Gynecology, 64(1), 20. (Family History Comprehensive Nursing Paper Example)https://doi.org/10.1097%2FGRF.0000000000000581

Leren, T. P., & Bogsrud, M. P. (2021). Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020. Atherosclerosis, 322, 61-66. https://doi.org/10.1016/j.atherosclerosis.2021.02.022

Nicastro, E., Iascone, M., Di Giorgio, A., Brecelj, J., Petruzzelli, R., Polishchuk, R. S., … & D’Antiga, L. (2021). Infantile ATP7B-Related end-stage liver disease: An exceptional Wilson disease phenotype from consecutive generations. JPGN reports, 2(3), e112.(Family History Comprehensive Nursing Paper Example) https://doi.org/10.1097%2FPG9.0000000000000112

Padda, I. S., Fabian, D., & Johal, G. S. (2023). Familial Combined Hyperlipidemia. In StatPearls [Internet]. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK592399/

Rogers, J. (2022). Mccance & Huether’s pathophysiology – e-book: The biologic basis for disease in adults and children. (pp. 140-201). United States: Elsevier Health Sciences.(Family History Comprehensive Nursing Paper Example)

Stein, G. S., & Luebbers, K. P. (2019). Cancer: Prevention, early detection, treatment, and recovery. (2^nd ed.). United Kingdom: Wiley.

Vlachadis, N., & Vrachnis, N. (2022). A review of sickle cell disease. JAMA, 328(19), 1979-1979. Doi:10.1001/jama.2022.16732(Family History Comprehensive Nursing Paper Example)

Appendices

Figure 1: Pedigree Drawing of the Family Health History

Figure 2: Family Health Table