Genetics and genomics are fundamental areas of nursing. In 2003, the human genome was sequenced entirely; this helped develop new methods in maintaining health and in treating some diseases. Understanding genetics through research has provided an awareness regarding the genetic elements of diseases and developing new advanced technologies used for screening, diagnosing, preventing, and treating various diseases. In all these processes, nurses are major players and are at the forefront of providing care. It has become essential for nurses to participate in genetic and genomic-based practices, like administering gene-based therapy to patients, collecting the genetic history of a family, and obtaining informed consent from a patient before genetic testing. This requires all nurses to have the ability to interpret genomic and genetic information and data to the patients in an ethical manner. In nursing practice, ethics is crucial due to the sensitive nature of information being dealt with. Nurses should be in the frontline when it comes to protecting patients' information and being transparent with the patient. One major gene-linked disease that has been a problem for many is sickle cell anemia.
Sickle cell anemia is among many problems grouped under the sickle cell disease category. It is inherited from parents, and the body of the infected individual lacks sufficient red blood cells to transport oxygen to other body organs. In normal scenarios, the red blood cells are pliable and can freely move in blood vessels swiftly. However, the red blood cells take the shape of sickles or crescent in sickle cell anemia. This crescent-shape affects the movement of blood as they can block blood vessels, which would result in the failure of blood and oxygen flow in the body (Mayo Clinic, 2020) . The symptoms become observable when a child is five months old, although they vary depending on the person and may also change over time. Some signs includ e anemia, pain, swollen hands, and feet, having repeated infections, slow body development, and having a problematic vision. All these symptoms are attributed to the lack of flow of oxygen when the sickle cells block blood vessels, and when they are depleted faster than normal (NIH, 2020) . Often, the red blo od cells die after about four months (120 days), but when an individual has this condition, the lifespan reduces to 10-20 days.
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This condition is brought by a mutation of the gene, which is responsible for making hemoglobin. Sickle cell makes the red blood cells less flexible and deformed. Both parents have to pass the defective gene for their offspring to be infected. In case just a single parent has the defective gene, the children will show sickle cell traits but will have one ordinary and one problematic hemoglobin gene. They cannot be infected but are carriers, and their children can inherit the gene. This condition may bring other complications, such as stroke, vision problems, pulmonary hypertension, acute chest syndrome, problems in pregnancy, among others. All these complications are due to the blockage of blood flow in the body. According to CDC (2019), the treatment of sickle cell anemia includes stem cell transplants. The healthy stem cells are used to produce healthy red blood cells, which are used in replacing the sickle cells. However, this procedure is not done often due to the many risks involved. In most cases, the management of the disease is done through blood transfusion and medications to minimize pain episodes and relieving other symptoms.
Genetic complications affect the physical, emotional, mental, and social wellbeing of the clients and the members of their family. Understanding all the elements of genetic information and preparing for the test results can help reduce the distress for the patient and family members (Genetic, 2010) . Being diagnosed with genetic cond itions may have effects, particularly on the parent who may have feelings of guilt. The patients are also affected by problems, such as helplessness and fear. This often affects the social and psychological wellbeing of affected individuals. In this vulnerable state, counselors, psychologists, and support groups can be very helpful in helping the patients and family members cope with difficult issues.
Genetic defects have huge effects on families and relationships. This makes this information very crucial and confidential. According to Lea (2008), nurses should consider the following considerations when handling such information. One is privacy and confidentiality; an individual's information should be protected from falling into the wrong hands. Leakage of this information could further affect the patient's relationships and social wellbeing. Nurses should also acquire informed consent when doing genetic testing. Genetics information is very personal, and testing should be done after permission has been given. Nurses should also be on the frontline in fighting genetic discrimination by providing quality genetic and genomic care to their patients. In addition, nurses should be guided by ethics to avoid breaching patient information. This could be a violation of the nurse-patient confidentiality, which prevents nurses from leaking patient's genetic information to other individuals and discriminating patients based on their genetics.
It is important or nurses to understand genetics and genomics when delivering nursing care. This helps them identify the impacts that genetics has on health. Having an understanding of this information help nurses to provide advice to the patients and their families on how to reduce health risks and promote their wellbeing. It also helps shed light on how important this information is, which helps promote confidentiality while also promoting the nurse-patient relationship. Nurses also have the responsibility of providing care to patients suffering from genetics and genomics related diseases. This helps in managing patient conditions and promoting recovery.
References
CDC . (2019, October 21). Retrieved from CDC Website: https://www.cdc.gov/ncbddd/sicklecell/treatments.html#Anemia
Genetic, A. (2010). Understanding Genetics: A New England Guide for Patients and Health Professionals. Washington, D.C: Genetic Alliance. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/23586107
Lea, D. H. (2008). Genetic and Genomic Healthcare: Ethical Issues of Importance to Nurses. The Online Journal of Issues in Nursing . Retrieved from http://ojin.nursingworld.org/MainMenuCategories/ANAMarketplace/ANAPeriodicals/OJIN/TableofContents/vol132008/No1Jan08/GeneticandGenomicHealthcare.aspx
Mayo Clinic . (2020, January 30). Retrieved from Patient Care and Health Information Website: https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
NIH . (2020, April 15). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/sickle-cell-disease
