Summary
Medical genetics aims to study the role of genetic factors in the etiology and pathogenesis of various human diseases. These diseases can be divided into hereditary diseases, including chromosomal conditions and genetic disorders, and diseases caused by a congenital predisposition – multifactorial diseases. Studying a person’s lineage can help identify the propensity for certain diseases and take measures to prevent or control the condition. The paper considers the patient’s pedigree who agreed to take part in the current genomic project. Family data were collected through a participant survey and included information about eleven people in three generations. The interviewer received informed consent to collect and use personal medical history and family history data.
The considered patient is a man, 28 years old, who looks overweight. At the time of the interview, the patient has no health complaints other than difficulties with weight loss and snoring during sleep. The medical history includes increased blood pressure (BP), back pain, and sinusitis. During the examination, BP readings are 130/81, but the patient mentions BP 140/80. The patient speaks of low physical activity and unbalanced nutrition due to work schedule features. His meals include few vegetables, plenty of fried food, and desserts, and the patient also admits occasional eating of junk food and a glass of alcohol at dinner. The man denies the use of drugs and also smoking. The physical examination showed the problem – the patient’s legs have signs of varicose veins.
Genogram
Genogram Analysis
Three generations of the patient’s family include 11 people, of whom 4 are women, and 7 are men. One of the eleven family members, maternal grandfather, died of diabetes at the age of 60, and the rest are alive. The patient has two younger brothers with some health conditions requiring attention. All three brothers, including the patient, suffer from recurrent acute sinusitis. The 26 years old brother does not have other serious health concerns, but the patient notes the weakness of the brother’s blood vessels, which causes periodic nose bleed. The younger brother, aged 19, suffers from kidney failure diagnosed at 15. The patient claims that he is the only one of the children in the family who is prone to being overweight.
The man’s parents are alive, and their medical history was also obtained from the patient’s words. Father, 50 years old, has type 2 diabetes diagnosed at age 40. He changed his habits through treatment and dietary counseling to manage his condition. According to the patient, his paternal uncle is 53 years old and has no health problems. The patient’s mother, 52 years old, is overweight and has trouble falling asleep, which is why she experiences chronic fatigue. According to the patient, maternal aunt, 48 years old, has no serious illnesses.
The older generation of the patient’s family has several more severe conditions that cause concern. Paternal grandmother, age 72, suffers from hypertension diagnosed at 57 and type two diabetes diagnosed at 66. Paternal grandfather was also diagnosed with hypertension at the age of 52, and according to the patient, grandfather is prone to being overweight. Maternal grandmother, 72, is overweight and was diagnosed with hypertension at 61. At the age of 69, she was also diagnosed with kidney failure, and at 71, grandmother had joint problems. The patient did not initially report problems with snoring in the family. After clarification, it turned out that the father, mother, and parental grandparents also snore, which may be a sign of obstructive sleep apnea.
Analysis of the hemogram allows identifying several potential problems that threaten the patient’s health:
- Type 2 diabetes mellitus. Although among the risk factors for diabetes is age, due to obesity, the disease is increasingly spreading among the younger generation. Moreover, genetic predisposition is a significant risk factor for developing the condition (Langenberg & Lotta, 2018). The patient is overweight, and family history shows a predisposition to diabetes both on the paternal and maternal lines – there are three cases of the disease. The sedentary lifestyle of the man and poor nutrition, which also contribute to the development of diabetes, are the additional causes for concern.
- Hypertension. Risk factors contributing to the onset of diabetes can also affect the development of hypertension. Causes of the disease include genetics, low physical activity, high sodium intake, improper diet, and obesity (Mills et al., 2020). The patient already has problems with BP, and three cases in family history confirm the need to take preventive measures.
Managing Patient Condition
Considering the patient’s family’s collected history and the existing risks of severe diseases and potential complications due to being overweight, he needs to take care of his health condition and take measures. To check his health and refute the diagnosis of diabetes, the patient needs to contact specialists and do several tests. Test options include random plasma glucose, fasting plasma glucose, oral glucose tolerance, or glycated hemoglobin (Hafida et al., 2018). Testing for hypertension occurs by measuring systolic and diastolic SBP, and the indicators for diagnosis are 140/90 (Unger et al., 2020). With such conditions as diabetes and hypertension and propensity to them, it is also essential to pay attention to cardiovascular health, renal, nervous system, and foot health (Hafida et al., 2018). After confirming the absence of diseases, the patient can focus on preventive measures or take treatment measures if conditions are present.
The key recommendations for the patient before confirming the presence or absence of disease are lifestyle changes. Actions to prevent, and in the case of illness, to manage, are healthy lifestyle choices in nutrition, activity, and habits (Hafida et al., 2018; Unger et al., 2020). Moreover, the patient feels uncomfortable due to excess weight, and this problem can also be solved by the same means.
By changing his activity to more intense, the patient will reduce BP, optimize glucose levels, and subsequently reduce weight. However, before starting more intensive exercise, the patient should consult with a physician to determine the most optimal set of activities (Hafida et al., 2018). This recommendation of consultation with a specialist is also relevant for preparing a nutrition plan. The patient’s diet should include many fruits, vegetables, food with fiber and limit fat, salt, and sugar. Essential aspects of improving health are the rejection of bad habits – the patient does not smoke but sometimes drinks alcohol, and he needs to be careful about this issue.
The patient is a young educated man working in the construction industry, and his work provides the necessary health insurance. The required resources are available to the patient to improve his health – he can buy the essential products, go to the gym, or do exercises at home. However, his crucial problem is the difficulty in adhering to the schedule and established rules. It is also difficult for him to give up unhealthy food, which is significant for his condition. Therefore, in this case, an essential task of the healthcare provider is to convince the patient of the need for change. Moreover, preventive measures were more effective and effective than the subsequent solution. Perhaps the hemogram can demonstrate its propensity for disease and act as a stimulating factor for lifestyle changes.
A nurse or attending physician may make the necessary recommendations for exercise and nutrition. The patient also can get a referral to a nutritionist to develop a more individualized diet plan. The patient may need a referral to the otolaryngologist to find out the cause of snoring and possible ways to solve the problem. Finally, referral to a physical therapist will help address back pain.
Genomics in Nursing Practice
As the above example demonstrated, genomics helps identify problems that the patient may not have known or not paid attention to. Therefore, I consider its use in nursing practice significant and efficient. Many diseases arise from a combination of adverse external factors and individual features of the human predisposing genome to the condition. Significant advances in human genetics open up new opportunities for treatment. I believe that genomics will allow shifting the focus from reaction medicine, which treats the diseases that have arisen, to preventive, which prevents them. Such a shift will make the population healthier and reduce the burden on health organizations. However, it will take some time to achieve such outcomes, and at the moment, the use of genomics is valuable in a more individualized and person-centered approach to the creation of patient treatment plans.
References
Hafida, S., Ganda, O. P., & Gabbay, R. A. (2018). Chapter 1. Clinical guideline for adults with diabetes. Evidence-Based Diabetes Management, 24(7), 1-18. Web.
Langenberg, C., & Lotta, L. A. (2018). Genomic insights into the causes of type 2 diabetes. The Lancet, 391(10138), 2463-2474. Web.
Mills, K. T., Stefanescu, A., & He, J. (2020). The global epidemiology of hypertension. Nature Reviews Nephrology, 16(4), 223-237. Web.
Unger, T., Borghi, C., Charchar, F., Khan, N. A., Poulter, N. R., Prabhakaran, D., Ramirez, A., Schlaich, M., Stergiou, G. S., Tomaszewski, M., Wainford, R., Williams, B., D.& Schutte, A. E. (2020). 2020 International Society of Hypertension global hypertension practice guidelines. Hypertension, 75(6), 1334-1357. Web.