Genetic counselor educates people and tells them about the inheritance of various diseases. The professional can provide these patients with a range of services. He/she can:
- “incorporate factors such as mutation class and specific genotype/phenotype correlations into their consultations with patients;
- interpret this information in the context of the patient’s medical and family history information as well as results of various CF-related screening and diagnostic tests to provide patients with accurate risk assessment;
- facilitate the genetic testing process for patients and their family members;
- provide psychosocial counseling to address individual issues and concerns that arise as part of this process;
- provide the patients with information about new mutation-specific treatments and trials that are available for CF patients” (Genetic counselors, 2000, para. 21).
To take a detailed family history, I would start with gathering the information about the consumers. The next step is to get the history of consumers’ immediate family members. Then those who are from the mother’s side and after that those who are from the father’s side. Finally, I would ask about the members of the family who have already passed away and clarify the cause of their deaths. If the consumers have relatives who are not biologically connected with them, the information about them should be also noted. I would tell the patients what the risks are and how they can improve the situation or explore other options. To evaluate potential genetic problems, I would gather reproductive history and create three-generation pedigree (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015).
I would recommend genetic testing before the patients attempt to have children for them to understand all possible risks (Prows, Hopkin, Barnoy, & Van Riper, 2013). As a genetic nurse (Advanced Practice Nurse) I would be able to facilitate this testing and explain its results.
Genetic testing is recommended as it has several advantages. Among them is the opportunity to get sure that both of the consumers have a genetic disorder and find out which one exactly. Thus, depending on the situation, they can start some kind of preventative treatment. They would be able to make a reproductive decision and change their lifestyle. The members of the family would also get to know what is waiting for them.
Still, there are some disadvantages of the testing. The results might cause stress and consumers would worry. The attitude of the family towards them can change. Moreover, the testing is expensive and not likely to be covered by medical insurance. If it turns out that both of consumers carry a genetic disorder they would face uncertainty being unable to understand if a child would become ill (Kaakinen et al., 2015).
As both patients have a genetic disorder, they may have an affected child. If a kid would be a boy, there will be a 50% chance of inheriting the disease. In case they would have a girl, there is a 50% chance of becoming a carrier.
Genetic counseling can be very emotional as it deals with serious issues, and both people who received bad news and good ones are likely to show their emotions. The nurse is to support them and sympathize. It is important to get to know family’s values and beliefs to understand them, so I would communicate its members to note them. I would identify the needs of this particular family and try to meet them. I would assure them to think positively and keep an open mind.
References
Genetic counselors – by specialty. (2000). Web.
Kaakinen, J., Coehlo, D., Steele, R., Tabacco, A., & Hanson, S. (2015). Family health care nursing: Theory, practice, and research. Philadelphia, PA: F.A. Davis Company.
Prows, C., Hopkin, R., Barnoy, S., & Van Riper, M. (2013). An update of childhood genetic disorders. Journal of Nursing Scholarship, 45 (1), 34-42.