Post a thoughtful response to at least two (2) other colleagues’ initial postings. Responses to colleagues should be supportive and helpful (examples of an acceptable comment are: “This is interesting – in my practice, we treated or resolved (diagnosis or issue) with (x, y, z meds, theory, management principle) and according to the literature…” and add supportive reference. Avoid comments such as “I agree” or “good comment.”

References:

• Response posts: Minimum of one (1) total reference: one (1) from peer-reviewed or course materials reference per response.

Words Limits

• Response posts: Minimum 100 words excluding references.

Discussion 1

genetic disorders are a fact of life, Therefore much care is necessary to enable the general population to plan and have healthy families. Many families have certain genetic conditions, for example, sickle cell anemia that requires appropriate genetic counseling (Kaakinen et al., 2015). Genetic counseling offers instructions to patients that are at risk of an inherited disorder of the consequences and traits of the disorder, the possibility of developing or passing it on, and the options open to them in management and family planning. As a nurse, I have a crucial role in making sure that these families possess the correct information on how to manage their lives and plan for their families. Within this post I will describe my role as a family health nurse in a genetic counseling scenario.

Sickle cell anemia happens when a child inherits the sickle cell gene from both parents. I would educate a couple who are both carriers of this gene on the risks of passing their defective genes onto their offspring. I would also advise them that if their child receives one normal gene from one parent and a defective gene from the other, then their child will only be carrier. But if the child receives a defective gene from both parents then he/she will definitely have the disease.

I would advise them that sickle cell anemia presents with myriads of clinical symptoms that consist of bouts of severe pain to life threatening blood defects (Thapar et al., 2017). Therefore, it would be wise for the couple to make certain they are able to give a lot of supportive care to their child and to ensure that they are in a position to cater to the financial needs of the condition. The condition is present throughout a person’s entire lifetime, and therefore a great deal of attention should be given to the economic abilities of the family (Akinyanju, 2016). For example, the frequent hospital visits of sickle cell crisis are demanding and necessitate the family to put aside adequate funds to manage the disease. Additionally, the drug regimens for the condition make it more demanding on financial status. Genetic testing creates an advantage for couples to be equipped with knowledge therefore giving them the choice to procreate or not, at the same time, the disadvantage is that no one can predict if the child will receive one or two defective genes.

In conclusion, genetic testing is used to detect genes that predispose individuals to certain inherited diseases and it gives couples the ability to make informed decisions about family planning. Genetic counseling entails giving advice to prospective parents concerning the chances of genetic disorders in future offspring. The nurse in this situation provides support to the couple and explains possible treatments or preventive measures and discusses reproductive options.

References

Kaakinen, J. R., Coehlo, D. P., Steele, R., Tabacco, A., & Hanson, S. M. (2015). Family health care nursing: Theory, practice, and research. Philadelphia: F.A. Davis Company

Thapar, N., Scott, P., & Alderson, P. (2017). Living with a congenital condition: the views of adults who have cystic fibrosis, sickle cell anaemia, Down’s syndrome, spina bifida or thalassaemia. In Before Birth (pp. 156-171). Routledge.

Akinyanju, O. (2016). 9 Coping with the Sickle Cell. Culture, Kinship and Genes: Towards Cross-Cultural Genetics, 133.

Discussion 2

The purpose of this discussion board is to review genetic counseling, genetic testing, and risk factors. This board is regarding a hypothetical situation in which a husband and wife are both carriers for a genetic disorder, and they are seeking advice regarding attempting to have children.

According to Healthcare Research Funding (2014), genetic counseling is the communication between patients and professionals with a goal of giving families information regarding their genetic health, risk factors, management, support, and genetic testing options. A genetic counselling session should include reviewing a genetic family history, reviewing risk factors, and providing support for the family. Biological relatives such as the immediate family members, the mothers side of the family, the fathers side of the family, and any other deceased relatives. The cause of death should be included within this assessment. For example, if a biological relative has been diagnosed with heart disease, diabetes, and/or Alzheimer’s, other family members have a greater chance of receiving the same diagnosis.

Prenatal testing can be used to assist this couple in determining the chances of their child inheriting this disorder. For example, in this situation, the mother and father carry the gene for cystic fibrosis(CF) and are requesting guidance as to whether they should attempt to conceive a child. Before advising the couple to attempt or avoid conception, I would first ask their opinion regarding having a child with cystic fibrosis. If the parents state that they would still like to have a child, regardless of the chances of the child having cystic fibrosis, then I would not recommend genetic testing. If the parents choose not to conceive because of the possibility of their child having CF, I would recommend that they go through prenatal genetic testing. According to Kaakinen, i.e. (2015, p. 191), a nurse can discuss the different types of genetic testing and the process of them, but they must have up-to-date knowledge on the different tests and be aware of the new technologies used for testing and result interpretation.

There are many advantages and disadvantages to genetic testing. Having knowledge on whether an individual is at risk for developing a disease can be beneficial or a nuisance. Certainty can provide a patient with relief and allow them to make decisions based on their risk factors. For instance, an individual with an increased risk of developing skin cancer can take further measures to decrease their risk. Having knowledge of an increased risk for a disease can be emotionally difficult on an individual. The patient may fear diagnosis, and may become over-fixated on preventing the disease.

CF has an autosomal recessive gene. With the mother and father both being an unaffected carrier of the gene, the child has a 25% chance of being unaffected, a 25% chance of actively having the disease, and a 50% chance of being an unaffected carrier. Given these results, the parents may be very emotional. It is extremely important that the nurse provides the parents with emotional support and guidance. The nurse should provide the family with resources for support and information.

Health Research Funding. (2014). Pros and Cons of Genetic Counseling. Medical Articles and Infographics. Retrieved from https://healthresearchfunding.org/pros-cons-geneti…

Kaakinen, J. R., Coehlo, D. P., Steele, R., Tabacco, A., Harmon Hanson, S. M. (2015). Family Health Care Nursing: Theory, Practice, and Research. (Fifth ed.). (p. 191). Philadelphia, PA: F.A. Davis Company