Genetic Counseling: Family Health Nurse

A couple that met at a Cystic Fibrosis Society support group is contemplating having children. They both had brothers who developed cystic fibrosis and they are concerned about the likelihood of having sons who have the disease. As a counselor, you are to answer the following two genetic counseling consult questions in addition to the five critical thinking questions that are listed below.

What are the most serious genetic diseases and what are the pros and cons of genetic testing?

Cystic Fibrosis is a life threatening condition that causes severe damage to the lungs and digestive system. Developing this condition can change a person's entire life. Depending on the severity of the condition a person can be affected by mild symptoms such as shortness of breath, all the way to severe symptoms such as rectal prolapse, or even death. Screening is done on infants in all 50 states; therefore if a child has inherited Cystic Fibrosis it will be known in the first months of life. As professional staff members of a nursing community it will be necessary to help prepare the child and the family for the life of Cystic Fibrosis.

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Genetic testing has brought about many changes in the way many couples look at conceiving and raising families. Through genetic testing you are able to screen for the increased chance that a fetus may have one of many congenital disorders, or even identify gene changes that are responsible for a disease that has already been diagnosed (Genetic Testing, March 2015). Unfortunately genetic testing is not always exact, in some cases giving parents false negatives or false positive results. Even if the results are accurate, there is the burden of knowledge once you know the results indicate a genetic abnormality such as Down’s syndrome. While caring for a 2 year old male patient with developmental delays and anotia, I learned that genetic testing had been started but never completed on the child. Genetic testing could help to identify genetic disorders that led to the child’s developmental delays and possible future disorders that may develop. The ethical dilemma I will be discussing to the ANA Ethical dilemma of the impact of informed consent of genetic testing on children for adult onset diseases and disorders.

Modern medicine now relies more and more on genetic science, so the demand for health care professionals who can assess and communicate these health issues is significantly increasing. This is because public awareness is growing in conjunction with scientific advances in reproductive technologies. Health care consumers now want genetics specialists who can provide highly accurate and advanced consultations regarding their unique genetic conditions. Most genetic counselors work with couples or single mothers who

Genetics has become a very important topic of discussion in the healthcare field. There are more and more diseases being linked to certain genes in the DNA. Carrier: Untangling the danger in my DNA, by Bonnie J. Rough, is one example of the modern problems people have to deal with in regards to genetics and genetic testing. The author writes about the problems she faced. She had some very difficult decisions about her possible offspring as well as herself. Rough writes about her struggle with deciding if she should get a genetic test for a gene that causes a disease that has been passed on through her families for generations. The reader also learns about her and her husband’s experience of getting pregnant and the steps they took to try

The purpose of the document is to explain the benefits of prenatal genetic counselling, procedures and tests used to find genetic abnormalities, and what to do with the information received through genetic counseling.

The purpose of this paper is to complete a Genetic and Genomic Nursing Assessment to analyze family genetic health risks. Genomics is the study of genes in the human genome and their interactions with each other and the environment and genetics is the study of individual genes and their effect on clinical disorders (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). Nurses should be able to perform an assessment of a family 's genetic health risks by using a three-generation family pedigree to obtain information regarding possible genetic inheritance pattern and recurrence risks. The family chosen for this paper has a history of chromosome balanced and unbalanced translocation. A balanced translocation is a chromosomal abnormality that if unbalanced (too much or too little genetic material) can lead to infertility, multiple miscarriages, or a child with congenital abnormalities, developmental issues, etc. A balanced translocation does not have a straightforward inheritance pattern. It depends on the chromosomes involved, if the carrier is a male versus female and how much genetic material is involved in the translocation itself.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

According to Berger (2014), a patient can receive genetic counseling to learn more about a condition/disease he or she may possibly be at risk for and may possibly pass onto their children (p. 88). A genetic counselor is educated and trained to describe to the patient the condition/disease, the benefits and drawbacks for taking the genetic test, the test results’ meaning, and how having the condition could affect their future children (Berger, 2014, p. 88). Then, the patient – not the genetic counselor – makes decisions about his or her next steps with respect to all the information they have been provided by the genetic counselor (Berger, 2014, p. 89).

Cystic fibrosis (CF) is a life-threatening genetic disease, explicitly an autosomal recessive genetic disorder, which primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States have CF (Song, Chiu, & Yoon, 2012). According to the Cystic Fibrosis Foundation, “In the 1950s, few children with CF lived to attend elementary school”("Cystic Fibrosis Foundation," 2014, p. 1). It is important to recognize the progress that has been made on diagnosing CF, as well as the numerous treatments that have figuratively, and in a sense, literally given a breath of life to those affected by Cystic Fibrosis. The advancement in diagnostic screening at birth and specific presenting symptoms, provide physicians and practitioners the opportunity to examine and aggressively treat CF from an early age, yielding a considerable positive impact on the life expectancy of those with CF. “During the past 3 decades, treatment advances have raised the median predicted survival age in the United States from 25 years (1985), to 37.4 years (2008)”(Song, Chiu, & Yoon, 2012, p. 132).

Here are some other changes affecting CF patients: Crackles, non-productive or productive cough, physical changes to the chest cavity, cyanosis, and clubbing of the fingernails. Genetic testing should be done since cystic fibrosis is an inherited disorder. Those affected with cystic fibrosis have parents “who do not have cystic fibrosis but are heterozygotes or carriers of the disease. A heterozygote has 1 dominant allele and 1 recessive allele.” (Grossman & Grossman, 2005, p. 46) My co-worker and her spouse are heterozygotes, and they have a 50/50 chance of having a cystic fibrosis child, they were not lucky with the odds and both their sons are affected with cystic fibrosis. These

The family is the basic unit of society. When a family member becomes ill, the entire family is affected. Family assessment is important because assessing the family’s structure and style will help formulate an effective teaching plan. It also helps to examine the strengths and barriers in the family. Health promotion and health maintenance for children and their families are foundational for all nursing care. Having specific knowledge about one’s genetic makeup and associated increased risk for disease provides a basis for health screening and may provide motivation for people to maintain a healthy lifestyle. Early diagnosis allows early intervention with health-promoting care specific

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.