Genetic counseling is defined as “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease” (Ormond, 2013, p. 189). It can be used to predict and prevent multiple heritable conditions, including diabetes. In the given paper, the focus will be made on a single case of a female patient of 32 years old who has a family history of type 2 diabetes (T2D) and was recently diagnosed with hypertension. Her current health status, diabetes prevention methods, applicable screening and diagnostics methods, prognostics, and recommended interventions, as well as the client’s possible reactions to the provided information and ethical considerations of genetic counseling, will be discussed in the following paragraphs.
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Health Factors and Reasons for Genetic Counseling
The assessment of the patient’s data with the Family History Tool reveals that she is currently at moderate risk of T2D development (risk score 4). The major factors that may contribute to the development of the disease include the body mass index (BMI) of 28.9 (75 kg/161 cm), which means that the patient is overweight; reduced physical activity (less than 150 minutes per week); and high blood pressure, which is considered a significant predictor of diabetes as these conditions frequently co-occur. Another important factor is that the patient’s mother was diagnosed with T2D at the age of 47. In this way, although a strong contribution of the environmental component, i.e., dietary and behavioral habits, etc., as well as increasing age, on the onset of the disease is widely recognized, it is also essential to take into account the polygenic factors defining diabetes occurrence.
As stated by “the lifetime risk of developing T2D is 40% for individuals who have one parent with T2D and almost 70% if both parents are affected” (Prasad & Groop, 2015, p. 90). It means that even though the factor of T2D heritability is only partial in the patient’s case as merely her mother was diagnosed with this disease before, in combination with other contributing factors, it constitutes the basis for the given genetic counseling session.
Screening and Diagnostics
As stated by Selph et al. (2015), “screening asymptomatic persons (those without signs or symptoms of hyperglycemia and no clinical sequelae) may lead to earlier identification and earlier or more intensive treatments, potentially improving health outcomes” (p. 766). Thus, due to the identified risk factors, it is possible to recommend the patient to undergo diagnostic testing for impaired fasting glucose and impaired glucose tolerance as these tests help find increased glucose levels, which are still insufficient for the diagnosis of T2D. The administration of the given diagnostic procedures will assist the physician in revealing if the patient falls under the category of the target group for diabetes prevention.
Treatment, Preventive Intervention, and Monitoring
According to Stein, Maloney, and Pollin (2014) T2D “can be treated with oral agents and in some cases diet and exercise alone, but some affected individuals require insulin depending on the degree of insulin resistance and deficiency and disease duration” (p. 3). Since the patient is currently at the pre-diagnostic stage of diabetes, the intervention prescribed to her should focus on cognitive-behavioral changes conducive to favorable outcomes, i.e., delaying and complete prevention of the disease onset. The engagement in regular physical activities of moderate intensity should be promoted, and the patient should be educated about healthy dieting in order to improve her BMI. For instance, she may be referred to one of the nutritional counseling programs aimed to help individuals at risk to achieve and maintain “a diet containing 10% of total energy intake as saturated fats, 5–10% as polyunsaturated fats, 25–30% as total fat (saturated, monounsaturated, polyunsaturated, and trans fatty acids), and 25 to 35 grams of fibre per day” (Alouki, Delisle, Bermúdez-Tamayo, & Johri, 2016, p. 3). Additionally, thiazide diuretics can be prescribed as part of pharmacological hypertension treatment as this type of medicine can have a favorable effect on glucose metabolism.
The prognosis for the patient outcome is positive. As Prasad and Groop (2015) note, T2D usually develops in individuals over 35 years old, and the risk increases with age. It means that the patient still has some time to intervene the unfavorable factors and postpone or prevent the onset of diabetes. Additionally, genetic predisposition to T2D can be well-controlled through the improvement of behavioral and nutritional habits. Thus, in case the patient adheres to all the recommendations, she will be able to avoid diabetes-related morbidity.
Possible Reactions of the Patient to Genetic Counseling
Different types of genetic counseling are associated with multiple ethical issues because they often address health problems requiring a delicate approach and healthcare practitioners’ sensitivity. One of the vivid examples of such dilemmas can be drawn from the sphere of prenatal genetic counseling as the diagnosis of a genetically affected fetus may put significant pressure on mothers and other family members. However, in the discussed case, one can expect a normal reaction from the patient mainly because the risk for T2D is not extremely increased in her situation; the decision about the adherence to the intervention is not very critical and will likely not be associated with a high level of psychological distress; and, moreover, the provided genetic information may relate to her knowledge background regarding the disease and its nature to a significant extent.
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The expected reaction implies that for this particular patient, the healthcare provider can use some directive counseling techniques, e.g., direct recommendations influencing the patient’s decision-making process (Than & Papp, 2017). Nevertheless, a partnership model of counseling can be considered an ideal form of practitioner-patient interaction since it “acknowledges patients’ needs, desire, and role in decision-making” (Than & Papp, 2017, p. 35). Through developing a partnership with the client, the counselor will encourage her to make an informed and autonomous decision regarding the suggested behavioral changes. It means that the healthcare provider will show the benefits and drawbacks associated with the intervention and early identification of pre-diabetic condition while taking into account the patient’s preferences and interests.
The literature review conducted in this paper demonstrates that people who have one or more relatives with any form of diabetes, especially those who developed the adverse condition early, automatically become the target population for genetic counselors because, as the research findings reveal, the propensity towards diabetes occurrence is genetically-defined. However, it is also apparent that genetic factors interact with the environmental and socio-cultural ones in the process of the disease development. As for T2D, the heritable health risk can be effectively reduced if the environmental component is modified in a timely manner. The given observation prompts the conclusion that genetic counseling can play a major role in the prevention and management of the disease.
Alouki, K., Delisle, H., Bermúdez-Tamayo, C., & Johri, M. (2016). Lifestyle interventions to prevent type 2 diabetes: A systematic review of economic evaluation studies. Journal of Diabetes Research, 2159890, 1−14. Web.
Ormond, K. E. (2013). From genetic counseling to “genomic counseling.” Molecular Genetics & Genomic Medicine, 1(4), 189–193. Web.
Prasad, R. B., & Groop, L. (2015). Genetics of type 2 diabetes — Pitfalls and possibilities. Genes, 6(1), 87–123. Web.
Selph, S., Dana, T., Blazina, I., Bougatsos, C., Patel, H., & Chou, R. (2015). Screening for type 2 diabetes mellitus: A systematic review for the U.S. Preventive Services Task Force. Annals of Internal Medicine, 162(11), 765–776. Web.
Stein, S. A., Maloney, K. L., & Pollin, T. I. (2014). Genetic counseling for diabetes mellitus. Current Genetic Medicine Reports, 2(2), 56–67. Web.
Than, N., & Papp, Z. (2017). Ethical issues in genetic counseling. Best Practice & Research Clinical Obstetrics & Gynaecology,43, 32-49. Web.