The Achievements in the Medicine: Diabetes, Down’s Syndrome, Huntington’s Disease

Subject: Healthcare Research
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The achievements in the field of healthcare and medicine cannot be ignored. Many helpful discoveries are being made to advance the possibility of treating such serious health problems and genetic disorders as Down’s syndrome, Huntington’s disease, and diabetes. Representatives of the US Food and Drug Administration (FDA) aim to ensure the safety and effectiveness of drugs marketed for a particular country (U.S Food and Drug Administration, 2018). The Center for Drug Evaluation and Research (CDER) is the primary center for taking responsibility for new pharmaceutical discoveries. Diabetes is a disorder that plagues millions of people around the globe. Though genetics is a central risk factor for developing diabetes, such aspects as the environment and the chosen lifestyle have to be considered. This case report aims to describe diabetes and its prevalence, discuss laboratory testing, chromosomal analysis, the origin of the disorder, the gene mutation, impacts of genetics on policy issues, nutritional influences, ethical considerations, changes in approaches to treating diabetes, and present the plan for educating colleagues.

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Guidelines and Reasons behind the FDA Regulations for Introducing New Pharmaceutical Agents

The FDA supports the idea of innovation and progress in the production of new biological products. The CDER tests new discoveries for new opportunities for people to be treated, to relieve pain, and to avoid harmful genetic mutations (Lagassé et al., 2017). The process of introducing new drugs consists of several stages. First, it is necessary to classify new molecular entities in terms of FDA goals (administrative or therapeutic). This decision helps determine if a chosen drug is innovative in terms of its chemical composition. Second, the organization checks all moieties as parts of these drugs in terms of their chemical composition and determines if some of them have already been approved (U.S Food and Drug Administration, 2018). To complete this step, it is necessary to evaluate the entire drug development process, starting from laboratory discoveries and ending with safety monitoring. Finally, the Public Health Service Act must be complied with to make sure that all federal standards have been followed. Recently introduced drugs include opdivo to deal with lung and liver problems and glucagon to counter the action of insulin.

The Role that Money and Grants Play in Scientific Advances and the Economics of Health Care

The question about the worth of new therapeutic agents and their cost troubles many people. During the last several years, the number of Americans with diabetes has dramatically increased from 25 million to 29 million (Lopez, Macomson, Ektare, Patel, & Botteman, 2015). Mittermayer et al. (2015) state that the total estimated costs of diabetes diagnosis increased up to $245 billion, with $176 billion to be spent on medical costs and $69 billion reflecting reduced productivity. The investigations of Conti and Rosenthal (2016) show that it is possible for the government to save about $15 billion annually by conducting negotiations with modern pharmaceutical companies. This step would help protect patients’ rights and encourage lawmakers to develop special grant systems to increase the quality and quantity of production. Still, these numbers attest to the role of money in scientific research and the fact that it is difficult to decrease the price due to the expenses of experimental studies, including purchasing of equipment, acquisition, travels, and communication.

The Role and Involvement Family Plays in Health Care Decisions

Every health care decision should be based on a number of factors. However, the role of family and the possibility of being involved in the treatment and healing processes remain an urgent topic for discussion. First of all, family caregivers can provide patients with the required emotional and practical support (Itzhaki, Hildesheimer, Barnoy, & Katz, 2016). The second important issue regarding family involvement is the possibility to improve decision making and the evaluation of a patient’s condition, available resources, and costs from several points of view. Finally, family members can make judgments about the quality and outcomes of medical treatments with regard to personal values (Itzhaki et al., 2016). Sometimes, patients have to deal with complex medical information and make decisions using their background knowledge and experience. If they do not have enough confidence and awareness, family involvement can become a helpful alternative. Common interests, family history, and past medical problems may be properly described and explained by several people to make sure health care decisions do not harm patients.

Discussion of the Disease, Its Prevalence, and Its Incidence

Diabetes is a well-known disease around the world because even if a person does not have it, he or she has probably heard about it and its effects on the quality of life. It is a heterogeneous disease that may be of two types, 1 – insulin-dependent (T1D) and 2 – non-insulin dependent (T2D) (Dooley et al., 2016). The exact etiology of T1D and T2D is currently studied because researchers and practitioners cannot state clearly what factors or triggers can directly cause the development of diabetes in persons. It is found that T1D develops as a result of the autoimmune response of a human organism against certain beta cells in the pancreas. As a result of this reaction, pancreatic beta cells cannot contribute to producing insulin. The development of T1D leads to the situation when a person’s pancreas cannot produce the required insulin anymore. This specific hormone is responsible for regulating sugar levels in the organism (Dooley et al., 2016). This form of insulin deficiency can be caused by genetic aspects and such environmental factors as viruses, but actual causes are unknown. Moreover, T1D is mostly diagnosed in childhood.

On the contrary, the development of T2D can be provoked by a person’s lifestyle and such specific factors as overweight and obesity. However, this type of diabetes can also be hereditary in its nature in association with a person’s predisposition to this disease referring to the family medical history. This type of diabetes is usually observed in adults, and it means the decrease in the production of insulin in the pancreas because of certain metabolic changes in the organism that are caused by overweight and obesity (Dooley et al., 2016; Nussbaum, McInnes, & Willard, 2007). As a result, insulin resistance develops in this case while leading to more acute metabolic changes and negative alterations in the work of blood vessels, nerves, and kidneys.

T2D includes about 90% of all diabetes cases, and an increased prevalence of this disorder is observed among Native Americans aged between 35 and 40 years (Nussbaum et al., 2007). The reasons for its prevalence remain unknown. Despite numerous attempts to investigate the features of diabetes, its molecular and genetic bases are poorly defined in the current state of research (Nussbaum et al., 2007). Though diabetes may have different causes, there are two factors that play a crucial role in its development. On the one hand, a patient may inherit a predisposition. On the other hand, genes are not enough to trigger this disease. The environment’s effect should also be considered.

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The clinical convergence of diabetes needs to be investigated. T1D and T2D patients demonstrate a progressive decline in beta cells (Dooley et al., 2016). A complex genetic landscape is also observed in the chosen group of patients, with several genes of GLIS3 and EIF2AK3 being recognized (Dooley et al., 2016). From this perspective, these genes cause defects in insulin production and result in hyperglycemia and poor protein and fat metabolism. Thus, the pathogenesis and epistemology of diabetes determine its prevalence and incidence, leading to increased incidence among children and young adults while depending on the type of diabetes.

Discussion of the Possible Laboratory Testing

The diagnosis, screening, and management of diabetes have to be properly developed in a care plan offered to patients. Patients can check their condition using several laboratory tests, including fasting plasma glucose (FPG), hemoglobin A1C, and random plasma glucose (Dooley et al., 2016). For example, the FPG test can be offered to both adult and child patients. The main requirement is to avoid food intake at least eight hours before the test. It indicates the level of glucose in the blood and can determine prediabetic conditions. The A1C test is focused on the level of hemoglobin in the blood and the presence or absence of oxygen-carrying proteins. The unusual feature of this laboratory test is that patients with specific blood problems cannot obtain clear results. Finally, the random plasma glucose test can be taken by people who are already aware of diabetes as their diagnosis or who observe evident symptoms of the disease.

However, the list of laboratory testing options can be enlarged. For example, Dooley et al. (2016) suggest flow cytometry to detect antigens and evaluate platelet membrane activity. This test can be used to identify the most appropriate drugs approved by FDA. Metformin, sulfonylureas, DPP4 inhibitors like sitagliptin, and thiazolidinediones can be used (Mittermayer et al., 2015). Still, it is difficult to predict all possible agents and choose effective drugs classes for all patients without considering their individual characteristics and outside factors. Therefore, the investigation of diabetes needs to be continued under laboratory conditions to improve the patient’s quality of life.

The Description of Whether the Chromosomal Analysis Can Be Indicated

High rates of mortality associated with the development and complications of two types of diabetes mellitus make practitioners pay much attention to determining the causes of these disorders with the focus on genetics. According to the results of recent studies, researchers state that genetic components are related to the development of not only insulin-dependent type 1 diabetes (T1D) but also non-insulin dependent type 2 diabetes (T2D) (Nussbaum, McInnes, & Willard, 2007; Pociot & Lernmark, 2016). The chromosomal analysis conducted for determining the predisposition for diabetes mellitus in patients is generally typical of T1D. When patients are diagnosed with having auto-antibodies to insulin, high levels of C-peptide, GAD65, as well as tyrosine phosphatases IA-2 and IA-2b, these aspects contribute to determining diabetes with the focus on its clinical course (Tallapragada, Bhaskar, & Chandak, 2015). According to Pociot and Lernmark (2016), “the larger the number of β-cell autoantibody types, the greater the risk of rapid progression to clinical onset of diabetes” (p. 2331). Much attention should be paid to identifying genetic predispositions with the help of the chromosomal analysis.

The key task of conducting the chromosomal analysis that can indicate the presence of T1D is the focus on determining specific HLA-DR3-DQ2 and HLA-DR4-DQ8 haplotypes, where the HLA is the human leukocyte antigen (Pociot & Lernmark, 2016). It is also important to note that T1D and T2D differ in referring to “particular alleles at the major histocompatibility complex,” or MHC, that is a group of genes in chromosome 6 that can be different in length because of various haplotypes (Nussbaum et al., 2007, p. 163). According to Precechtelova, Borsanyiova, Sarmirova, and Bopegamage (2014), “the HLA-DRβ1∗03:01 haplotypes carrying HLA-DRβ3∗02:02 alleles showed a higher risk than HLA-DRβ1∗03:01 haplotypes carrying DRβ3∗01:01 in DRβ1∗03:01/∗03:01 homozygotes with two DRβ3∗01:01 alleles” in contributing to the development of T1D (p. 2). Therefore, the chromosomal analysis is required to determine what specific genes affect the progress of the disorder.

The problem is that, at the first stages of developing T1D, there are no symptoms in spite of β-cell autoimmunity. Therefore, concentrating on the chromosomal analysis conducted for members of the family with the history of T1D is important to prevent and address the development of the disease while measuring β-cell autoimmunity and starting the treatment at early stages (Precechtelova et al., 2014). In this context, researchers and practitioners should focus on studying the HLA region of the 6p21 chromosome in order to discover functional genes that influence the progress of T1D.

The Causes of Diabetes Mellitus

Causes of different types of diabetes mellitus vary, but it is also critical to pay attention to the fact that they are not studied appropriately, and more research is still required in this field. T1D is usually viewed as being caused by the autoimmune destruction of beta cells in the pancreas that prevents the insulin secretion as a result of genetic factors. However, the recent studies on the topic also support the assumption that the cause of T1D is more complex, and it is associated with the combination of both genetic and environmental factors, including viruses (Pociot & Lernmark, 2016; Tallapragada et al., 2015). From this point, genetic predisposition means the involvement of major histocompatibility complex class II haplotypes in the process of provoking autoimmune responses. However, the role of environmental factors in causing diabetes is accentuated in studies and experiments because “there is currently a 3% annual increase in incidence, which cannot be explained by genetic predisposition” (Christoffersson, Rodriguez-Calvo, & Von Herrath, 2016, p. 2). Still, it is also necessary to state that environmental factors mainly provoke T2D.

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The general cause of T2D is related to insulin resistance influenced by metabolic changes and high glucose levels that can be associated with overweight and obesity in people. Furthermore, there is also monogenic diabetes in addition to polygenic T1D and T2D that is rarely observed in people, and its causes need to be examined in detail. Maturity onset diabetes of the young is also studied by researchers in this context (Tallapragada et al., 2015). From this point, a modern tendency in research on diabetes is to study its polygenic T1D and T2D and understand what genes and environmental factors in their combination can provoke the progress of these two different types of diabetes and to what extent.

Diabetes Mellitus in Terms of Gene Inheritance, Practice Implications, and Patient Education

For T1D and T2D, the polygenic or complex gene inheritance is typical. While focusing on the types of diabetes, it is possible to state that primarily maturity onset diabetes of the young is characterized by the monogenic or single gene inheritance. In most cases, the type of inheritance is described as autosomal dominant or recessive (Tallapragada et al., 2015). As a result, depending on the gene inheritance type, this disorder is characterized as heterogeneous in terms of its nature or etiology. Researchers state that monogenic diabetes is diagnosed rarer than T1D and T2D (Tallapragada et al., 2015). While diagnosing diabetes and focusing on its type, it is important to examine whether the observed type of diabetes is polygenic or monogenic, as it is in the case of maturity onset diabetes of the young, because this aspect directly influences the treatment plan for a person and the related clinical course of the disease (Stein, Maloney, & Pollin, 2014). Therefore, the problem of diagnosing monogenic or polygenic diabetes should be discussed in the context of certain considerations for practice, as well as patient education.

The treatment of T1D, T2D, and maturity onset diabetes of the young differ significantly because of their genetic nature. According to Stein et al. (2014), “94% of children and adolescents with the most common forms of monogenic diabetes (maturity onset diabetes of the young, or MODY) were misdiagnosed, mostly as T1DM or T2DM, and 76% were receiving the wrong treatment” while following the results of the study of 2013 (p. 57). The problem is that much attention should be paid to the glycemic control depending on the type of diabetes, and the therapy is determined according to the genetic nature of the disorder. While referring to the example of T1D, Christoffersson et al. (2016) state that “the key to understanding the initial autoimmune events in T1D will be to know why beta cells upregulate MHC molecules and what controls the initial lymphocytic infiltration of the islets” (p. 5). These aspects depend on the polygenic nature of T1D, and the decision regarding the treatment plan and the dosage of insulin is usually based on the results of the tests supporting the fact that this certain type of diabetes is present.

In this context, patient education is also important to guarantee positive outcomes for individuals. Healthcare practitioners should work to improve the recognition of different types of diabetes in patients in order to help them understand the causes of the disorder and risks factors (genetics, obesity, and age among others), follow the most appropriate treatment plans, and realize the difference between polygenic and monogenic diabetes that are rare (Stein et al., 2014). Additional education for patients and information about possibilities to contact genetic counselors can contribute to coping with the symptoms of the disease.

Analysis of the Gene Mutation in Relation to Diabetes Mellitus

T1D develops as a result of the inherited mutation of genes when T2D is not typically associated with the mutation of genes, but it can develop depending on the genetic predisposition in the family. However, it is important to note that even the development of T1D is not based only on the genetic factor, and environmental triggers are important in this process. T1D can progress as a result of mutations in the HLA (human leukocyte antigen) region of the 6p21 chromosome: HLA-DQA1, HLA-DRB1, and HLA-DQB1 (Pociot & Lernmark, 2016). These genes are responsible for making the immune system identify proteins produced by viruses or bacteria in order to protect the organism from such type of invasion.

When the mutation in HLA-DQA1, HLA-DRB1, and HLA-DQB1 is observed, an autoimmune disorder associated with attacking the body’s own cells and proteins is developed. Changes in HLA-DQA1, HLA-DRB1, and HLA-DQB1 lead to suppressing specific beta cells that participate in producing insulin. The mutation in genes becomes inherited, and the disease develops following these stages: the gene mutation, triggering the response of the immune system and the impact of environmental factors, interactions with other genes in the pancreas (Precechtelova et al., 2014). The determined variations of haplotypes are viewed by researchers as risky for developing T1D, but the mutation in certain genes accounts only for the half of factors to provoke the development of T1D, and the other half is associated with environmental factors, as well as changes or mutations in other genes.

Diabetes remains to have the high prevalence in the United States and over the globe, and this fact makes researchers and practitioners pay more attention to studying the causes and nature of this disease. Currently, actual causes of diabetes mellitus are not stated clearly, and researchers suppose that the combination of genetic and environmental factors influences the development of the disease, as it is in the case of T1D. However, the genetic predisposition does not play the key role in influencing the development of T2D. Moreover, the appearance and progress of monogenic types of diabetes differ from polygenic ones, to which T1D and T2D belong. As a result, it is important to state that the gene inheritance and gene mutation related to diabetes need to be studied in detail to propose the most effective methods of diagnosing and treating for patients depending on the chromosomal analysis.

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The Impact of Genetics on Policy Issues

Despite the fact that inherited diseases are often associated with genetic factors, the aspect of nutrition should also be taken into account as it can influence the quality and effectiveness of treatment. This statement is reasonable in terms of discussing how nutrition can influence the development and treatment of type 1 diabetes (T1D) and type 2 diabetes (T2D) (Chiang, Kirkman, Laffel, & Peters, 2014; Wu, Ding, Tanaka, & Zhang, 2014). In most cases, nutrition can influence T1D indirectly, but it is important for the complex therapy. On the contrary, the impact of a nutritional aspect on the development of T2D is direct and significant.

The spread of genetic testing and the use of genomic technology can be discussed as becoming more popular among clinicians and the public because these resources allow for determining a genetic component related to many diseases, predict and prevent their development, as well as propose the most effective treatment. Therefore, genetic information is important to be collected and analyzed in order to improve the management of inherited or genetics-based diseases (Cesarini & Visscher, 2017; Mills, Barry, & Haga, 2014). However, the focus on genetics in diagnosing and treatment leads to provoking many ethical and administrative or policy issues, and this factor has caused modern changes in healthcare policies.

Typical policy issues associated with genetics include the ethical and legal manipulation of the results of genetic tests and the use of genetic material. Other issues are associated with the genetic discrimination based on the results of testing that should be prevented in the workplace and in interactions with insurance companies (Cesarini & Visscher, 2017; Mills et al., 2014). As a consequence, the focus on more opportunities of genetic testing leads to developing policies that can regulate testing procedures, the use of genetic material, and the application of genomic information to prevent the misuse of any chromosomal data, discrimination, or the violation of privacy rights.

Nutritional Impacts on Diabetes

The causes associated with the progression of T1D include genetics, changes in metabolic processes, and environmental factors, including viruses. However, researchers also add the physical activity, lifestyle, and nutrition to the list of aspects that can be discussed as triggers for the development of T1D depending on the genetic predisposition (Sami, Ansari, Butt, & Ab Hamid, 2017; Piłaciński & Zozulińska-Ziółkiewicz, 2014). In this context, nutrition can provoke the development of T1D when individuals intake cow’s milk and sugar in childhood, when people consume food with a high glycemic index and with much fat, or when malnutrition is observed (Piłaciński & Zozulińska-Ziółkiewicz, 2014). The uncontrolled consumption of carbohydrates and saturated fat leads to changes in the body mass index, and this aspect is correlated in some cases with diabetes (Nussbaum, McInnes, & Willard, 2007; Piłaciński & Zozulińska-Ziółkiewicz, 2014). In order to regulate the health state, people with T1D are recommended to limit the consumption of carbohydrates and sugar, as well to eat products with a low glycemic index in order to control glycemia.

Nutrition can directly influence the development of T2D, as it is confirmed with the results of experiments and studies. Researchers mention sodium glutamate, glucose, fructose, carbohydrates, saturated fats, soft drinks, fried foods, and red meat among substances and products that can provoke obesity and metabolic changes associated with insulin resistance and T2D (Sami et al., 2017; Wu et al., 2014). Therefore, a healthy diet based on the consumption of green vegetables and low-fat products is usually proposed for patients with T2D.

Nutritional Assessment and Counseling

A nutritional assessment should be discussed as a critical step in diagnosing and treating diabetes because of the importance of changing a diet in order to address the problem of insulin resistance. At the first stage of a nutritional assessment, a genetic counselor is expected to inform a patient regarding the role of keeping to an appropriate diet for the health of a person who is at risk of developing diabetes (Piłaciński & Zozulińska-Ziółkiewicz, 2014; Sami et al., 2017). In addition, for a person with the family medical history of diabetes, the prevention measures include the assessment of a current diet in terms of the glycemic index of products that are regularly consumed by an individual and the amount of fat and sugar that is eaten by this person (Chiang et al., 2014; Piłaciński & Zozulińska-Ziółkiewicz, 2014). While conducting screening and diagnostics, it is necessary to assess nutrition along with identifying the type of diabetes because an unhealthy diet can directly provoke the development of T2D, as it is found by many researchers in the field.

While referring to the aspect of prognostics, a person should be informed regarding all possible changes that are associated with consuming saturated fats and sugar and developing diabetes if the body mass index is high and the proposed diet is not followed. It is also important to note that the absence of changes in a diet leads to worsening the symptoms of insulin resistance, and risks of diabetic ketoacidosis increase (Sami et al., 2017; Wu et al., 2014). In addition, a nutritional assessment is also important at the stages of selecting a therapy and monitoring the effectiveness of treatment (Chiang et al., 2014; Piłaciński & Zozulińska-Ziółkiewicz, 2014). The reason is that different patients can demonstrate worsening in symptoms even when following a special diet for persons with diabetes, and individual assessments and additions of substances are required in these cases.

Human Nutrition and Associated Aspects

Discussing prevalence rates in the context of human nutrition and the development of diabetes, it is important to note that an unhealthy diet or malnutrition can influence the disease in 60% of cases along with other important factors (Chiang et al., 2014; Sami et al., 2017). Thus, the prevalence rate is comparably high. According to Piłaciński and Zozulińska-Ziółkiewicz (2014), “several aspects of nutrition may be taken into account, including macro- and micronutrient content, daily meal regimen, effect of food on glycemia and other metabolic parameters, and adjustment of insulin treatment to the timing and content of meals” (p. 128). Therefore, the analysis of a patient’s nutrition plays a key role in testing and treating diseases that directly depend on the consumption of certain substances, as it is in the case of diabetes and consuming sugars (Sami et al., 2017). Furthermore, the prognosis regarding the progression of the disease can also be based on alterations in a diet and positive changes or the absence of any changes in the course of a disease.

Ethical Considerations Related to Diabetes

Certain ethical issues associated with aspects of the genetics and treatment of diabetes include details of genome research as well as genetic testing to determine a gene mutation that can potentially lead to the development of diabetes. Other issues are associated with the restrictions that authorities can impose on certain types of genetic research (Quintal, Messier, Rabasa-Lhoret, & Racine, 2018). Moreover, some problems may be connected with nation- and state-based approval of diabetes-related technologies (Rigter et al., 2014). As a result, a lack of effectively developed ethical standards oriented to predicting and treating diabetes can lead to the creation of barriers to addressing diabetes with the help of innovation in medicine and genetic research.

Furthermore, developing new approaches to diagnosing and treating diabetes is associated with such ethical issues as the involvement of human subjects and the protection of their rights and privacy. In addition, researchers also point to ethical questions related to situations in which persons diagnosed with diabetes can receive unequal treatment or face discrimination in the workplace (Floyd & Psaty, 2016). The prevalence of these ethical issues can be explained with reference to the fact that people lack necessary knowledge regarding type 1 diabetes (T1D) and type 2 diabetes (T2D).

How Genetics Improves Care and Reduces Costs

Common practices related to treating T1D and T2D depend on using expensive insulin-based or other types of pharmacological therapies combined with modifications in patients’ lifestyles. However, researchers have noted that the latest findings in the field of studying the genetic factors associated with diabetes can be used to predict and diagnose different types of diabetes more effectively, along with focusing on family medical history and regular screening (Godino et al., 2016). If genetic testing identifies a person’s predisposition to diabetes, regular screening aimed to diagnose diabetes at an early stage can be discussed as a more cost-efficient strategy than simply treating this disorder in later stages, considering its asymptomatic nature in many cases (Schuurman et al., 2015). Thus, genetic testing and screening in families with a history of diabetes are important steps to improve health outcomes and reduce the potential costs associated with treating this disease.

Prevention strategies based on the results of genetic research are essential to decrease the number of undiagnosed and untreated persons with diabetes. This approach will contribute to improving the public health and decreasing the associated costs required for providing therapies for individuals with different types of diabetes (Godino et al., 2016; Rigter et al., 2014). Furthermore, genetic testing can be used to prevent complications that may be associated with the development of diabetes (Zhang & Shrestha, 2015). As a result, in referring to innovations in using genetics to diagnose and treat diabetes, it is possible to anticipate the development of cost-efficient diagnostic and treatment practices.

Changes in Approaches to Health Care

Diabetes is an actively studied disease because its symptoms and complications can significantly impact the quality of an individual’s life. Therefore, when new evidence is found that improves the existing approach to diagnosing and treating the disease, much attention is paid to testing outcomes for patients and adding the new method or technique to therapy that is already in use. Currently, advances in genetic research are viewed as significantly influencing the quality of treating diabetes because, today, it is possible with care to determine the type of this disorder that is involved and what interventions can be used effectively in various cases (Ranscombe, 2015; Zhang & Shrestha, 2015). Moreover, recent studies on the genetic factors in the development of T2D have also contributed to treating the disorder not only with a focus on appropriate life interventions but also in terms of prescribing effective medications and decreasing adverse effects on patients.

Thus, HLA genotyping can be successfully used today to determine the risks of developing T1D in children from families with a medical history of this disease. New testing procedures have been widely implemented in the United States, and positive results have been demonstrated regarding the development of prevention approaches and strategies based on these findings (Wilson et al., 2016). Changes in approaches to treating children with diabetes tend to draw the public’s and specialists’ attention because of the ethical issues related to using youth in research (Floyd & Psaty, 2016). However, any evidence to prove the effectiveness of a specific diagnostic approach or treatment method based on genetic research can contribute to significantly addressing T1D and T2D among the types of this disorder.

The Plan for Educating Colleagues and Patients

It is important to educate healthcare professionals and patients regarding the development of diabetes and its complications. In spite of the public’s attention to this disorder because of its negative impact on people’s quality of life, both healthcare practitioners and patients often lack adequate knowledge of diagnostic procedures, genetic testing, and treatment plans appropriate for any particular case (Quintal et al., 2018). Therefore, a specific plan should be proposed to educate clinicians and patients about diabetes as a genetic disorder:

  1. Organize lectures and presentations on different types of diabetes and the role of genetics and genetic testing in diagnosing and treating these types.
  2. Organize lectures and presentations on the specifics of genetic testing and screening in relation to diabetes with a focus on the possible ethical issues and the role of these procedures in preventing and addressing the disorder.
  3. Create and distribute a brochure on different types of diabetes, their symptoms, and methods of diagnosing the disorder in the early stages.
  4. In cooperation with the authorities of healthcare facilities, organize workshops and seminars for healthcare professionals on approaches to diagnosing diabetes and selecting treatment plans depending on the received results, focusing on the genetic component.
  5. In cooperation with the authorities of healthcare facilities, organize assessments of healthcare professionals’ knowledge regarding diabetes and its types, methods of diagnosing, associated genetic research and testing, and the use of genetics for selecting the most effective treatment plan.

The lectures and presentations proposed in the context of this education plan can be developed for both healthcare professionals and patients, but the terminology used should be adapted for the audience depending on the level of their knowledge of the topic. Brochures should be distributed in healthcare facilities among the medical staff, patients, and members of their families. Workshops and seminars for healthcare professionals can be associated with positive results in terms of improvements in persons’ understanding of diabetes, its types, development, symptoms, treatment, and prevention.


This case report has provided information on diabetes as a genetic disorder. The disease has been described with a focus on its prevalence. Much attention has been paid to the laboratory testing and chromosomal analysis that can be used to diagnose the disorder. The role of genetics in the development of different types of diabetes has been analyzed with reference to the phenomena of single gene inheritance and complex inheritance. Furthermore, details about the gene mutations related to diabetes have also been described in the report. The connection between genetics and policy issues has been explained. Additional attention has been paid to discussing the aspect of nutrition in terms of its impact on treating the disease. Ethical considerations associated with diabetes and a plan for educating healthcare professionals and patients have also been analyzed.


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