NUR 3306 – Deliverable 6 – Nursing Care Strategies in Genetics and Genomics
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. He wants to check to see if he has inherited any genes or specific genetic conditions that could cause him diseases or any genetic-specific disorders later in life. This is especially important to him because he is 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) and 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 on 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 is conducted by removing DNA cells from the inside of his cheek with a stick called a buccal swab Loeffler and Hart (2018). These cells will be examined to determine if there are any possibilities of adult-onset genetic disorders or diseases. These are then sent for a complete analysis of his DNA 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). 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 means that if he decides to have children, there is a 50% chance that his child will also inherit this gene and, with it, Huntington’s disease Loeffler and Hart (2018).
Huntington’s disease is, unfortunately, a fatal genetic disorder. What happens with this disease is a person’s brain cells start to break down, causing the person’s nervous system to slowly and completely deteriorate Loeffler and Hart (2018). They slowly 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 normally 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 et al. (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 carry this dominant gene Loeffler et al. (2018). Brady is now left with so many unanswered questions he must lean heavily on the expertise of his specialized genetic nurses.
NUR 3306 – Deliverable 6 – Nursing Care Strategies in Genetics and Genomics
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 also provide him with contact information of any researchers who might be currently working on any new gene therapy for Huntington’s and the most current treatment methods currently being used by Migliore et al. (2019).
Brady’s nurses will also suggest he participate in Enroll-HD, an international group of scientists that specifically 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 to find 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. This 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 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 that Brady and his family can visit online, such as The Huntington’s Disease Society of America (HDSA), which is a United States organization that focuses on improving the lives of the people and their families who suffer from 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) is 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).
NUR 3306 – Deliverable 6 – Nursing Care Strategies in Genetics and Genomics
In conclusion, the most important 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 is discovered, good or bad. Let’s remember there is never any turning back once those results are in.
References
Beery, T., & Workman, M. L. (2018). Genetics and genomics in nursing and health care, 2e. Retrieved April 01, 2020, from https://ebookcentral.proquest.com.
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 https://ebookcentral.proquest.com.
Migliore, S., Jankovic, J., & Squitieri, F. (2019). Genetic counseling in Huntington’s disease: Potential new challenges on the horizon? Frontiers in Neurology, 10, 453. Retrieved April 1, 2020, from https://doi.org/10.3389/fneur.2019.00453.
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Question 
Develop a plan of care that identifies nursing strategies that incorporate genetic and genomic risk factors, three interprofessional resources, 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: Explanation of a specific genetic or genomic testing technology.
Describe what positive results of the testing technology indicate. Design a plan of nursing care strategies based on positive results.
Describe three interprofessional resources in planning care for clients with genetic and genomic needs. Determine three resources for the facilitation of genetic and genomic referrals.