Genetic Counseling in Nursing: Case Study of Cystic Fibrosis

The nursing profession is trusted to provide answers to their patients regarding questions of health, illness, and disease. Genetics often play a part in the overall wellness and health of particular individuals. The family health nurse should help family members understand the challenging aspects that genetic information will have on their own life, family structure, beliefs, and cultural norms (Daly, 2015, p. 550). This discussion post will explore a counseling scenario that involves a counseling session that will provide information and choices to a couple wishing to have children.
This couple has discussed their concerns involving the genetic possibility of their children having cystic fibrosis since a family member has this disorder.

Cystic fibrosis (CF) is a genetic disorder most prevalent in Caucasians and includes altered sweat patterns, insufficiency of the pancreas, and pulmonary inflammation that leads to respiratory problems (Tomaiuolo et al., 2013, p. 2227). As a family health nurse, it is my responsibility to obtain a detailed family history and provide information to the couple so that they may make an informed decision with having children. A family nurse should acknowledge and be aware of how family genetics play a role in the health and function of an individual and their families (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015, p. 188).
The counseling session will begin with a thorough assessment of the beliefs, values, ethnic backgrounds, and the family health histories of both husband and wife.

Examination of this information would reveal that CF is a genetic disorder is a biological risk that may be inherited by their offspring. This is a very emotional time for the couple and I would explain that CF is an inherited autosomal recessive genetic disorder and testing can be done to determine if they possess this recessive gene. I would give them information about the testing including, how it is done, interpreting the results, and guidance to several that they can make. I would recommend that they do this testing and would discuss the pros and cons of these tests.
An advantage of this test would give this couple a peace of mind to an understanding of this disease and the risks or chances of having a child with CF. If neither has the recessive gene they can proceed to have children with less of a fear or emotional turmoil than normal for parents. A disadvantage would produce more anxiety, stress, and fear if both tested positive for this gene. As a family health nurse I would help ease their emotions and may refer them to a genetic counselor who would explain further testing and alternatives that will help guide them to becoming

parents.
The blood tests of the couple reveal that they are carriers for CF.

At this time I would reveal the chances of having a normal child is 25%, a child who is a carrier is 50%, and that there is a 25% chance of having a child with CF. My role would be to reveal all choices and alternatives to this family, enlist the help of a genetic counselor, and be a pillar of support for this emotional time in their lives. Information on caring for a child with CF will be shared along with associated health problems. I would explain that a child with CF would need daily care and that improvements in treatments will allow for a better quality of life and longer life expectancy than in the past. Their child will go to school, have friends, and will get a job. Choices for this couple would be to accept the risk and have a child, not have children, adoption, use donor sperm or eggs, or undergo in vitro fertilization with prescreened embryos. I will be there to provide emotional support and help them to make a decision that is most appropriate in their

situation.
In conclusion, a family health nurse should understand and be knowledgeable to how genetic factors can have an emotional affect and relationship on the health of an individual and their families (Kaakinen et al., 2015, p. 188). This discussion presented facts and choices to help a worried couple to make the appropriate decision to have a child. Emotional support and guidance of the family nurse has allowed this couple to make an informed choice that will affect not only their lives, but also that of their child.