Nursing Care Strategies in Genetics and Genomics

Deliverable 6 – Nursing Care Strategies in Genetics and Genomics Competency Design nursing care strategies which incorporate genetic and genomic risk factors. Scenario You are a new graduate nurse caring for a patient that received a positive result from a genetic or genomic testing technology. Part of your role as a general nurse in genetic and genomic care is to provide accurate information, ensure appropriate patient referral, and serve as a patient advocate. Instructions Develop a plan of care that identifies nursing strategies that incorporate genetic and genomic risk factors,( Multiple Scelrosis) threeresources, and three referral resources for a client that has a positive result from a genetic or genomic testing technology that you explain. Your plan of care will be presented in a Word document that includes the following sections: 1. Explanation a specific genetic or genomic testing technology 2. Describe what positive results of the testing technology indicates 3. Design a plan of nursing care strategies based on positive results 4. Describe three interprofessional resources in planning care for clients with genetic and genomic needs 5. Determine three resources for facilitation of genetic and genomic referrals Running head: NURSING CARE STRATIGIES IN GENECTICS AND GENOMICS 1 Nursing Care Strategies in Genetics and Genomics Sabine Bowles Rasmussen College WIN20X2-NUR3306CBE-01CBE Integration of Genetics and Genomics into Ethical Nursing Practice Candy Bradbury April 21, 2020 NURSING CARE STRATEGIES OF GENECTICS AND GENOMICS 2 of Genetics and Genomic Interprofessional Resources for Clients with Genetic and Genomic Needs Thomas Brady is adopted and has recently married. He has decided he would like to undergo genetic testing to check to see if he has inherited any genes or if specific genetic conditions could cause him diseases or any genetic specific disorders later in life. Genetic abnormalities are especially significant to him because of getting older and contemplating having children. A friend has suggested he reach out to a specialist nurse who is a member of the International Society of Nurses in Genetics (ISONG) has partnered him with a genetic counselor who is a member of the National Society of Genetic Counselors (Beery and Workman 2018). He is happy to know nurses in these organizations focus their entire purpose in making sure their patients and families have access to the most up to date genetic studies and current scientific findings (Beery and Workman 2018). They also will help coordinate and find patients and family support groups related to their genetic issues (Beery and Workman 2018). These nurses and counselors also receive specialized training focusing specifically on the science of genomics and how best to deal with the ramifications of a patient’s genetic findings (Beery and Workman 2018). Brady now feels like he is ready to take the next step and have the test completed. Genetic Test Procedure and Results Indications/Ramifications Brady’s test requires removing DNA cells from the inside of his cheek with a stick called a buccal swab (Loeffler and Hart 2018). In examining these cells, these tests determine if any gene combination possibilities can cause adult-onset of genetic disorders or diseases (Loeffler and Hart 2018). Unfortunately, the findings in Brady’s case indicate he carries an autosomal dominant gene for Huntington’s Disease (Loeffler and Hart 2018). What an autosomal dominant gene means that an abnormal gene from just one parent will cause the disease in the individual (Loeffler and Hart 2018). Brady having this gene makeup say that if he decides to have children, there is a 50% chance that his child will also inherit this gene and, with it the Huntington’s disease (Loeffler and Hart 2018). NURSING CARE STRATEGIES OF GENECTICS AND GENOMICS 3 Huntington’s disease is, unfortunately, a fatal genetic disorder. What happens with this disease is a person’s brain cells start to breakdown causing the person’s nervous system to wholly and slowly deteriorate (Loeffler and Hart 2018). They gradually lose all their physical and mental capabilities (Loeffler and Hart 2018). There is no known cure for this disease (Loeffler and Hart 2018). The only treatment is tricyclic antidepressants, neuroleptic medication, physical therapy, and any other drugs that can treat the symptoms (Karcher 2019). Patients typically end up dying because of heart or respiratory issues because, at the end of the illness, they are no longer able to get out of bed, and around the clock, care is needed (Karcher 2019). A person who has a dominant gene like this will automatically pass this gene on to their children (Loeffler and Hart 2018). Many of these people who have a dominant gene do not find out until they start showing signs during middle age and already have had children who now too carry this dominant gene (Loeffler and Hart 2018). Brady faces so many unanswered questions he must lean heavily on the expertise of his specialized genetic . Nursing Plan of Care for Positive Genetic Results It is essential to recognize that even though most nurses are not experts in genetics, it is their responsibility to create a patient care plan for addressing these genetic findings. It is also the nurse’s responsibility both ethically and legally to make sure to flag these findings in a patient’s chart (Beery, & Workman, 2018). She should also tell the patients doctor who may choose to set up referrals for the patient-focused on the specific needs a genetic condition may present (Beery, & Workman, 2018). A doctor may also choose not to address the findings, but at least she has performed her duty of informing the caregiver, and it in the future, there will be documentation in the chart (Beery, & Workman, 2018). A nurse may also suggest the patient create his pedigree (Beery, & Workman, 2018). The nurse should thoroughly explain what a pedigree entails and assist the patient in creating one showing at least three generations of families (Beery, & Workman, 2018). A pedigree will help to track the existence of Huntington’s Disease in the family and to determine who may also need to undergo genetic testing, to NURSING CARE STRATEGIES OF GENECTICS AND GENOMICS 4 create a more thorough genetic makeup (Beery, & Workman, 2018). She should also explain to the patient that with all of this new ancestral knowledge, the patient still has the same rights in the level of privacy of this information (Beery, & Workman, 2018). The nurse should finally provide the appropriate referrals to specialists who will be better prepared to address any further patient genetic questions (Beery, & Workman, 2018). Three Interprofessional Resources A nurse may suggest a patient visit a clinical geneticist usually is a medical doctor or osteopathic doctor. These doctors complete a 1- year internship and also spend another two years strictly focused on genetic counseling, and any therapies for the management of a specific genetic condition (Beery, & Workman, 2018). These doctors perform screening tests to identify any genes that could cause a patient to, in this case, get Huntington’s or pass it on to their children. They can also establish treatment plans that can help to mitigate the symptoms of the disease. They also deal with other problems that originate with a person’s DNA, such as chromosomal disorders and congenital disabilities (Beery, & Workman, 2018). A nurse may also suggest a patient visit a certified genetic counselor (Beery, & Workman, 2018). This person has a master’s in genetics and spends their time individually counseling families on any specific genetic risks they could have. It is their responsibility to make sure all of this genetic patient history is handled professionally and ethically, always focusing on the patient’s best interest (Beery, & Workman, 2018). Another suggestion in Tom’s case, a neurologist would be the best doctor to answer any specific questions on any particular treatment of Huntington’s Disease (Beery, & Workman, 2018). A neurologist can analyze images from MRIs on a person’s brain with Huntington’s and can determine the extent of any current degeneration of the brain’s neurons from the disease progression. Neurologists also create and explain treatment plans for any of the neurological issues such as uncontrolled muscle movements or muscle spasms often experienced by those individuals diagnosed with Huntington’s (Beery, & Workman, 2018). They also are excellent resources for more thorough explanations for a patient’s family. NURSING CARE STRATEGIES OF GENECTICS AND GENOMICS 5 Neurologists can help families better understand what to expect with the progression of this disease and what they also can prepare for or initiate down the road to help their loved one deal with the never-ending progress of the physical and emotional limitations (Beery, & Workman, 2018). Resources/Referrals/Support Groups for Patients and Their Genomic Issues Patients like Brady come to these nurses and immediately ask what we do now with this newfound genetic information (Migliore, Jankovic, Squitieri, 2019). His nurse’s first job is to let him know he’s not alone and that she will guide him through the next steps. She will also show him organizations that are willing to help patients with Huntington’s disease (Migliore et al. 2019). These groups focus on finding the right people to answer any of his questions and can also provide him with contact information of any researchers conducting new gene therapy for Huntington’s. They also are excellent resources on the most current treatment methods being used (Migliore et al. 2019). Brady’s nurses will also suggest he participate in Enroll-HD, an international group of scientists that accurately document the journey of these people and their families with Huntington’s. One hundred thirty groups all over the world, collect information yearly from formal assessments, including lab testing specifically focused on Huntington’s disease (Migliore et al. 2019). Brady is also concerned about how this gene will influence the genes of his children if he decides to have them. There is a specialized group in charge of this called HD Cope. This international organization coordinates the efforts of the HD Society of America (HDSA), the European Huntington Association (EHA), and the Huntington Society of Canada (HSC). These groups work with patients and their families on finding the best way to navigate their lives when they face the diagnosis or genetic finding of Huntington’s disease (Migliore et al. 2019). They may choose to have prenatal genetic counseling. Genetic testing will help make Brady aware of the different options he can take to prevent having a child born with Huntington’s (Migliore et al. 2019). Scientists have also made many discoveries on how to manipulate genes invitro while a woman is pregnant (Migliore et al. 2019). The nurses must also discuss with Brady the possibilities or decisions he NURSING CARE STRATEGIES OF GENECTICS AND GENOMICS 6 may need to make with his spouse of having to terminate a pregnancy if they determine their child carries the dominant gene for Huntington’s (Migliore et al. 2019). There are also complete websites which Brady and his family can visit online such as The Huntington’s Disease Society of America (HDSA). An organization in the United States which focuses on improving the lives of the people and their families who have Huntington’s Disease (Migliore et al. 2019). There is also a website that discusses all aspects of the disease and how to find local support groups and more online resources just for the treatment of the disease (Migliore et al. 2019). Huntington’s disease Advocacy Center (HDAC), a forum where anyone who is directly or indirectly affected can go and share what they have been experiencing due to Huntington’s (Migliore et al. 2019). They also provide research updates and political advocacy pages (Migliore et al. 2019). In conclusion, the most relevant job we have as nurses in genetic situations like these is our role as our patient’s advocate. When a patient like Thomas Brady decides to participate in genomic testing as his nurse, we should immediately find ourselves willing and able to find the resources to discuss any genetic ramifications when patients choose to have these tests. We must also never forget to address any of the family’s concerns related to these genetic findings. A decision to have genetic testing should never be a decision someone just decides to participate in overnight. This person must always be prepared to live with whatever genetic information discovered, good or bad. Let’s remember there is never any turning back once those results are in the hands of the patient. NURSING CARE STRATEGIES OF GENECTICS AND GENOMICS 7 References Beery, T., & Workman, M. L. (2018). Genetics and genomics in nursing and health care, 2e. Retrieved April 01, 2020, from Karcher, S. J. P. D. (2019). Huntington’s disease. Magill’s Medical Guide (Online Edition). Loeffler, A.G., & Hart, M. N. (2018). Introduction to human disease: Pathophysiology for health professionals. Retrieved April 1, 2020, from Migliore, S., Jankovic, J., & Squitieri, F. (2019). Genetic counseling in Huntington’s disease: Potential new challenges on horizon? Frontiers in Neurology, 10, 453. Retrieved April 1, 2020, from Deliverable 7 – Comprehensive Case Summary Competencies Identify ethical dilemmas encountered in professional nursing practice. Describe the ethical theories and principles influencing healthcare decisions. Explain the interdependency of genetics, genomics, and ethics on nursing care. Describe the principles of genetics and genomics. Differentiate the legal and professional policies influencing healthcare decisions. Design nursing care strategies which incorporate genetic and genomic risk factors. Scenario In your role as a case manager you have the opportunity for bedside rounding with the interdisciplinary team on your unit. In preparing for the week’s team rounds you need to prepare information to present a case summary and plan of care to the interdisciplinary team on your newly admitted client with a positive genetic test result. You look forward to the opportunity to advocate for your client and value the holistic approach that the interdisciplinary team supports. Instructions Create a written case summary that details an evidence-based interprofessional comprehensive holistic plan of care based on expected genetic and genomic assessment findings for client with a positive genetic test results. Include the following related to the chosen genetic condition: Details pertaining to expected genetic and genomic assessment findings and diagnostic results Ethical considerations including a potential ethical dilemma Ethical theoretical foundations Relevant legal and professional policies Interprofessional care Nursing care strategies Running head: COMPREHENSIVE CASE STUDY 1 Comprehensive Case Summary Nina Gibert Rasmussen College NUR3306CBE Section 01CBE Integration of Genetics and Genomics into Ethical Nursing Practice Marguerite Aube June 6, 2020 COMPREHENSIVE CASE STUDY 2 Comprehensive Case Summary The patient is a 37-year-old female, first pregnancy, 17 weeks, presents in the clinic after maternal serum screening was done a week ago due to patient age to identify if the fetus has a risk for Down syndrome and other genetic conditions. Unfortunately, serum markers showed low AFP, low uE3, high hCG, and high inhibin A associated with an increased risk of Down Syndrome. Now with the possibility of a fetus having the chromosomal disorder, the provider offers amniocentesis. It is the procedure when fetal cells from the obtained amniotic fluid will cultured and a chromosome analysis performed. During chromosomal genetic analysis, whole chromosomes or long lengths of DNA checked to see if there are significant genetic changes (NIH, 2020). Down syndrome results from trisomy 21, which means each cell in their body, instead of the normal two copies, has three copies of chromosome 21. Ethical considerations in regards to genetic screening for Down syndrome include ensuring the patient gives informed consent; the patient should understand they are not required to have the test done because it is voluntary. Genetic testing has benefits, limitations, and risks; that is why the decision about whether to be tested is a personal and complex one (Robichaux, 2016). A nurse can provide information about the pros and cons of the test and discuss the social and emotional aspects. A nurse needs to inform the patient that the results are confidential. Prenatal testing for Down syndrome will bring more ethical questions such as choice, autonomy, and quality of life (NIH, 2020). First of all, knowing that the child will be born with Down syndrome will impact both families and health care providers. Now parents will need to make thoughtful decisions if they prepared to raise a child, and on the other hand, care providers should support and respect the patient’s choice. The nurse or genetic consult will give more information regarding screening and testing and screening and testing results. Next, the patient COMPREHENSIVE CASE STUDY 3 always has the freedom to choose what to do with her own body. And finally, if the family decided to raise the child with Down Syndrome, the genetic clinic should provide full information regarding the quality of life with this syndrome and a variety of support services. For the nurse who is taking care of the patient with the possibility for a fetus to have chromosomal disorders, ethical theories and principles are essential. They will guide the nurse to improve the quality of outcomes through patient safety and satisfaction. Four approaches related to ethics in nursing include Ethics of Care, Principalism, Utilitarianism, and Deontology (Edwards, 2011). Ethics of Care theory helps nurses to understand what is right while caring and nurturing patients. It is assisting the nurses in making the right ethical decisions by treating patients as the priority choice. The theory of Principalism is a theory that teaches nurses about the principles of beneficence, autonomy, justice, and nonmaleficence, and how to use them in actions and decisions for ethical care. Utilitarianism shows how to make a choice that offers the highest good for the most significant number. The nurse will be prioritized choices based on the value of consequences instead of what to change in past situations. Deontology will help nurses make the right choice to support rules or morals (Edwards, 2011). The main point is when nurses will use rational thoughts over emotion in their decisions. The needs of the patient who diagnosed or whose child diagnosed with Down syndrome are core. To differentiate professional policies from legal policies, nurses will use different approaches. First, the professional strategies encompass the interests of the patients within the premises of a healthcare facility. On the other hand, the legal systems cover the rights of patients within and beyond the premise of the healthcare setting. Secondly, the professional policies allow nurses to establish ethical plans on care delivery, the client’s advocacy, and patient care COMPREHENSIVE CASE STUDY 4 while legal aspects limit nursing practices. Thirdly, the professional policies based on six principles of ethics like Beneficence, Nonmaleficence, Justice, Fidelity, Veracity, and Autonomy (Lasswell & McDougal, 2017), while legal components emphasize government regulations. Lastly, professional policies developed from the responsibilities of nurses and ethical concerns in the healthcare setting. On the other hand, legal syste …

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