Running head: GENETIC DISEASE DIAGNOSIS, SCREENING, TREATMENT

Genetic Disease Diagnosis, Screening, Treatment, Advocacy and Decision Making
Linda Jefferson
Western Governors University
Contemporary Nursing Issues
GNT1

December 16, 2012

Genetic Disease Diagnosis, Screening, Treatment, Advocacy and Decision Making

Generally speaking, a pregnancy in today’s society is met with varying emotions ranging from devastation and fear to joy and excitement. Some expectant parents have conceived on accident, some carefully planned. Some expectant parents have conceived with no problems; while others have had difficulty. These parents often find themselves trying different methods and spending a great deal of their finances to increase their chances of conceiving. With that being the case, it is often devastating to finally conceive and find out that your child has a birth defect or a disease such as Tay Sachs. Tay Sachs is a genetic condition, usually found in Caucasians, and primarily those of Jewish descent, and develops in 25% of cases when both parents carry the recessive gene (National Tay-Sachs and Allied Diseases [NTSAD], n.d.). It’s a neurological disorder that effects brain development. Development of infants afflicted with this disease appears normal at first but soon deterioration of the child’s mental and physical abilities becomes apparent. This deterioration continues until most children afflicted with Tay-Sachs lose their battle for life. The average lifespan of these children is 4 years (National Institute of Neurological Disorders and Stroke [NINDS], 2011).
Interdisciplinary Team
Unfortunately, Peter and Rita Trosack have been told that their unborn child has been diagnosed with this condition. In order to provide this couple with the appropriate care, resources, education and support that is needed, an interdisciplinary team will be needed. The team will consist of a registered nurse, genetic specialist, a genetic counselor, social worker, therapist and a perinatologist.
A Registered Nurse specializing in prenatal clients will be an integral part of this team. This nurse is chosen because of her nursing education with additional training, classes and certifications specific to prenatal/perinatal care. He/She will assess the couple’s understanding of pregnancy and prenatal care and make a plan to educate them on the pregnancy and delivery. Additionally, the nurse will ensure the couple understands each test or referral suggested by the physician.
A perinatologist is a doctor who provides care for a mother and fetus who have higher than normal risks for complications. He/She will be important to this team as well. This doctor has a lengthy education, residency and fellowship history to gain knowledge in caring for patients determined to need specialized care. The perinatologist is capable of making diagnoses other obstetricians may miss and performs specialized procedures and administers medications. He/She will assess the medical needs of Mrs. Trosack and her fetus throughout the pregnancy, monitor fetal growth and development, order diagnostic tests, and provide referrals to other specialists as needed to ensure the successful birth of the baby.
A genetic specialist/geneticist would be chosen because a genetic specialist is a physician who diagnoses, treats and counsels patients with genetic disorders or syndromes. He/She can help identify the appropriate tests to order and provide information about the treatment and long-term outcomes for patients diagnosed with a genetic disorder. The genetic specialist will discuss the medical management of the disorder together with who is at risk, what the risks are and the choices members of the family have available to them. The genetic specialist will coordinate clinical follow-up for the early screening detection of treatable problems and prevention of complications. The genetic specialist will do an interview to retrieve any available family history, perform a clinical examination, and be available to discuss any patient concerns.
A genetic counselor will be chosen to work with the Trosacks because a genetic counselor is a health care professional with a specialized graduate degree and experience in the areas of medical genetics and counseling. The counselor will assist in comprehending medical facts related to the disorder, understanding the genetic contribution to the disorder and choosing a course of action appropriate for the individual adjusting to the disorder. The counselor will discuss issues related to coping and adjusting to the diagnosis.
A medical social worker will be chosen to work with the Trosacks because they are often providers of psychosocial services to individuals and families with genetic conditions. They usually have an understanding of ethical, legal, and psychological implications of genetic diagnoses. The social worker will aid the genetic counselor in obtaining information about family relationships, planning follow-up and therapeutic interventions, and initiating necessary referrals for available resources. By working together as a team, the genetic counselor and social worker will provide a support system for the patient and the family.
A therapist specializing in marriage and family therapy needs would be another addition to the team. The couple has been told some potentially devastating news and may have some difficulty coping. They may have problems verbalizing their emotions. A therapist specializing in family matters can help facilitate this verbalization. The therapist can meet with the patient and her spouse together and individually. The therapist will be available to continue sessions after the birth of the baby to continue to assist them with any developing stressors.
Teaching Plan
The teaching plan for the Trosacks’ initial visit at the high-risk pregnancy center will include the following: genetic diagnosis, treatment, prognosis, support groups/referrals and pregnancy information.
Genetic diagnosis will be achieved through genetic tests which are done by analyzing small samples of blood or body tissues. They determine whether the mother, father or baby carry genes for certain inherited disorders. The Trosacks need to understand what the disease is, how it’s genetically inherited, the probability of other pregnancies testing positive, and what symptoms their child is likely to develop. The appropriate teaching should begin with in depth education on the disease. They need to know a child can only have Tay-Sachs disease if both parents are carriers of the gene. A discussion of the probability of future children having the disease should be discussed. The parents should be told that when two carriers have a child together there is a 50% chance their child will be a carrier, but not have the disease; 25% chance that their child will not be a carrier and not have the disease; and a 25% chance that their child will have the disease.
Presently there is no treatment for Tay-Sachs disease. Managing symptoms and promoting comfort is the present treatment for Tay-Sachs disease. The Trosacks will benefit from learning about these symptoms and how those symptoms are treated. Anticonvulsant medication may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open, physical therapy and speech therapy
One of the most difficult aspects in educating the Trosacks about Tay-Sachs disease will be to advise them that there is no cure for this genetic disease at this time. The prognosis is grim, with most children becoming progressively worse until their death by age 4 or 5. Because most children develop normally until around six months of age, the Trosacks need to know that an absence of symptoms does not mean their child does not have the disease. Within the first year, development slows and starts to regress, motor skills decline and muscle tone decreases. In the second year, muscle tone continues to decline, congestion can occur, seizures typically start and swallowing begins to deteriorate. In the third year, muscle tone completely diminishes leaving the child paralyzed, hearing and eye sight can be lost. Seizures and respiratory issues are primary symptoms. In the fourth year and beyond, there are very little changes and management of symptoms becomes more complicated. The Trosacks need to be educated regarding these things so they can begin to discuss which treatments they may wish to pursue. Teaching should also include that there is ongoing research for Tay-Sachs disease and researchers are studying ways to improve treatment and screening methods.
Support groups and appropriate referrals should be interventions included in the plan of care because this information will more than likely be very overwhelming to the Trosacks. Because of this, they will need a great deal of support. The Trosacks should be given information on local support groups as well as the internet communities available to them. The National Tay-Sachs and Allied Diseases Association, March of Dimes and National Organization for Rare Disorders websites will allow them to connect with other families who are living with Tay-Sachs. This support will help the Trosacks connect with other people who know what they are going through. There are several support groups that the Trosacks can contact to get support on how to deal with raising a child with Tay-Sachs disease. One group they can contact is the Genetic Alliance, which can be found by going to http://www.geneticalliance.org. This alliance has resources such as “The Official Parent’s Sourcebook on Tay-Sachs Disease”. A referral to a medical pediatric specialist should be made for the baby’s care. Also, referrals to speech and language therapy, respiratory therapy and physical therapy will also be made.
Information on pregnancy is necessary for any pregnant woman, especially during her first pregnancy, so it is appropriate to provide it in this situation as well. It is important to teach them about the pregnancy to help them understand and learn about what to expect. Since Mrs. Trosack is "advanced for maternal age" there may be some information that will be beneficial to her that will help her pregnancy be as healthy as possible Some of the potential problems that may develop due to her advanced maternal age in pregnancy include miscarriage, fetal distress, low birth weight, and pregnancy induced hypertension. It is important that Rita knows routine prenatal care is essential to a healthy pregnancy. Mrs. Trosack should be educated about all the changes her body will go through during the pregnancy.
Ethical Implications
With the emergence of genetic testing, come ethical and legal implications regarding the availability of personal genetic information. While testing may be wonderful to some, it may not be for all.
An ethical implication arises with regards to the decisions which will need to be made with regards to the results of the tests. The results may necessitate the need to make decisions about continuing the pregnancy, selective termination and adoption. Some parents use prenatal diagnoses as part of a decision to prepare themselves for needs the child will have, while others use the diagnoses as part of the decision to terminate pregnancy. This will lead to questions of genetic testing being used by parents to terminate what they may consider a less than desirable child. Is it ethically responsible to terminate life because the child may develop a certain genetic disease?
Studies show that though genetic testing can be helpful, it can cause stress, emotional and mental conditions because the patient is left to determine what would be the best steps to follow after given genetic information. Some genetic tests do not identify all of the possible gene mutations that can cause a particular condition, or they have limited predictive value. Because of this, genetic tests may not provide all the information that families may want, and may subsequently require difficult decisions without providing full information. This can lead to uncertainties for patients and clinicians (Halsey, Williams, & Donahue, 2005, p. 234-240)
Other implications regarding the availability of personal genetic information include privacy and confidentiality. There must be acknowledgment that genetic information is sensitive and access should be limited to those authorized to receive it. Future access to a person's genetic information also should be limited (Halsey et al., 2005, p. 234-240). Information from results of genetic testing can affect the lives of individuals and their families. With that being said, should other family members be made aware of the genetic testing results? Should the information be kept private? What will be the responsibility of the patient in providing the results to other family members? Should patients have the freedom to decide whether or not to tell other family members? .Are they legally and ethically bound to give the others the results?
In addition to personal and family issues, there are implications for employment and insurability. Some genetic tests are required or strongly encouraged for developing fetuses and newborn babies. If an infant is found to be a carrier or likely to develop or be affected by an inherited disease, these findings may affect the future employability or insurability of the individual.
Another issue is that of justice with regards to the decisions for what tests to screen for as a matter of practice. For, some genetic disorders can be found with testing while others still cannot. For example, “the ability to identify carrier status for a mutation in the gene for cystic fibrosis is lower among Asian American and African American persons” than it is in Caucasians (Halsey et al., 2005, p. 234-240). Thus, the results of testing performed on an Asian American or African American patient may not be a reliable indicator of their carrier status.
Other ethical and legal implications would be related to the actual financial responsibility associated with paying for genetic testing. General laboratory tests can be very expensive, so it is safe to assume that genetic testing will be equally if not more expensive. Will these tests be considered as optional and possibly not be covered by insurance companies? Or will the government require insurance companies to cover this testing? If they are considered as optional, will the government agencies pay for these tests? If not this may lead to families without adequate finances inability to pay for this testing.
Another important point when considering ethical implications for genetic testing is education. Educating individuals will be a challenge in offering genetic services as well as the utilization of genetic information. There must be informed consent prior to obtaining these tests. That consists of several components, including a clear description of the diagnostic procedure, type of information that may be received, the accuracy and reliability of the tests, harmful effects and potential risks of the procedure(s), and possible interventions if results are unfavorable. Education to the public about genetic testing may help avoid some suffering, and give knowledge to those who are possible carriers of devastating diseases.
Reflections
Peter and Rita Trosack are facing a difficult situation to say the least. Deciding to continue with a pregnancy when tests suggest that the child has a terrible genetic disease can not be easy. I feel that my personal beliefs should not even be a factor in this situation, unless they are solicited by the Trosacks. It is my belief that as nurses we should advocate for the right of people to make choices for themselves in particular situations. I believe that we should educate and empower them to make those choices because only they know what decisions are best for them. Accepting the responsibility of this patient obligates me to provide the best care I possibly can; which includes advocating for the patient, her spouse and their decision to continue with their pregnancy.
One of the most important things that I can do to advocate for this patient is to educate them on Tay-Sachs, available support and resources, the hurdles they may face in caring for this child, as well as the milestones that they can expect to experience with their child, and what to prepare for when the child is born. As their advocate my hope would be to assist them in completely understanding the disease process and help them decide a philosophy of care. I believe that the patient and her spouse should be given a complete picture of what things may or may not occur.
It is also important to advocate for a healthy pregnancy, encouraging her to eat well, exercise, and attend all her prenatal appointments. The Trosacks should be in an environment where they feel comfortable talking about their decision, and not feel as if they are being judged. They should be encouraged to take this time to enjoy the pregnancy and prepare for the experience that is to come. Encouraging them to talk about their experiences can help them process their emotions and may help prepare them.
There are ethical and legal considerations that affect the Trosacks decision for continuing the pregnancy. The ethical implications they face include their religious beliefs regarding pregnancy, life and abortion. The Trosacks may be morally opposed to terminating a pregnancy based on their religious upbringing, but may feel pressure from other sources to terminate the pregnancy based on the test results stating the child has a devastating disease. Ultimately, the Trosacks decision will be influenced by those beliefs.
Another ethical consideration that may present itself is whether the Trosacks should continue to have children knowing the odds of having another child with Tay Sachs disease. Differing opinions will present themselves and the Trosacks again will be faced with decisions that may not be easy for them. Counseling will be a very important intervention in providing this family with complete care.
Legal considerations that affect the Trosacks decision to continue the pregnancy will include the legal requirements once the infant is born. An infant with Tay Sachs disease will require more care than a healthy infant would. The Trosacks have a legal obligation to provide a safe environment, medical care and financial support. Because of the complex needs of the child, the parents may have financial difficulty, as well as emotional difficulty, providing appropriate care for this child.
Genetic screening, with appropriate education and counseling, can provide people with information of enormous value. It is inevitable that our perception of health will change as greater screening possibilities become available, however, it may be more reasonable to accept the concept of a genetically ill person. There's nothing that will prepare the Trosacks for what lies ahead emotionally, but the more they learn the more they will be able to handle what does come in the future. References
Halsey, L. D., Williams, J., & Donahue, M. (2005). Ethical issues in genetic testing: Why genetic testing may lead to ethical dilemmas. Journal of Midwifery and Women’s Health, 50(3), 234-240. Retrieved from http://www.medscape.com/viewarticle/505222_4
National Institute of Neurological Disorders and Stroke (2011). . Retrieved December 10, 2012, from http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
National Tay-Sachs and Allied Diseases (n.d.). Tay-Sachs Disease. Retrieved December 12, 2012, from http://www.ntsad.org/index.php/tay-sachs