DNP-810 Topic 2 DQ 2 Refer to the complex inheritance health issue identified in DQ 1

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Topic 2 DQ 2

Jun 16-20, 2022

Refer to the complex inheritance health issue identified in DQ 1. Given available genetic tests, which would you use to screen and diagnose this issue? How can the doctoral-prepared nurse apply this information in practice? Explain. Support your rationale with a minimum of two scholarly sources.

REPLY TO DISCUSSION

Christopher McCorkle

Jun 21, 2022, 5:44 PM(edited)

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Replies to Christopher McCorkle

Researchers are learning to predict people’s chances of developing diabetes. For instance, most white people with type 1 diabetes have genes associated with autoimmune diseases. Suppose their child is white and shares those genes, their child’s risk increases (McCarthy, 2019). Suspect genes in other ethnic groups are less well studied; however, scientists believe that the gene may also put African Americans in danger. One screening involves an antibody test for children with type 1 diabetic brothers and sisters. The test measures antibodies against insulin, islet cells, and an enzyme called glutamic acid decarboxylase (GAD). Elevated rates may suggest a child has a higher risk of developing type 1 diabetes. An additional genetic test for monogenic diabetes is to provide a blood or saliva sample from the DNA. The DNA analyzes changes in the genes that cause monogenic diabetes (Pinto et al., 2021). Abnormal results can determine the gene responsible for diabetes in a particular person or show if a person is likely to develop a monogenic form of diabetes in the future. Genetic testing can help select the most suitable therapy for people with monogenic diabetes. Also, understanding the risk of having a child with monogenic diabetes is critical in pregnancy planning. Nurses trained DNP’s are able to apply the knowledge of genetic tests through diagnosis, disease prognosis, treatment, and advice.

Reference

McCarthy, J. (2019, May 23). How genetic testing is benefiting patients with diabetes. Precision Medicine Advisors. Retrieved June 21, 2022, from https://www.precisionmedicineadvisors.com/precisionmedicine-blog/2019/4/30/how-genetic-testing-is-benefiting-patients-with-diabetes

Pinto, D. L., De Araújo, R., Cruz, S. A., Canavarro, T. A., & Brito, M. A. (2021). Diabetes monogênico: Diabetes tipo mody, diabetes neontal / monogenic diabetes: Mody diabetes, neonatal diabetes. Brazilian Journal of Development, 7(12), 114188–114205. https://doi.org/10.34117/bjdv7n12-276

Christina Atkins Whyte

replied toChristopher McCorkle

Jun 21, 2022, 7:28 PM

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Replies to Christopher McCorkle

Thanks, Christopher for your post and the enlightenment of the study on genes and type 1 diabetes. I can help to educate people about the risks of developing type 1 diabetes and how beneficial the screening can be in one’s life. As DNP, we can enhance the awareness of these issues in our practice.

Margaret Mbachu

replied toChristopher McCorkle

Jun 22, 2022, 10:18 PM

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Replies to Christopher McCorkle

Thanks, Christopher, Diabetes Mellitus is a problem for many families due to its accompanying complications such as blindness, kidney failure, or neuropathy. Children less than 18 years old are ending up with DM type 2 due to obesity caused by overeating. Most children in the USA get reduced meals at school. So government funding should focus on providing a balanced and nutritious diet in schools to reduce this epidemy.

Carolyn Smith

Jun 21, 2022, 3:28 AM

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Replies to Christopher McCorkle

Sickle cell disease (SCD) is one of the complex inheritance health issues that result from the presence of a mutated form of hemoglobin, hemoglobin S (HbS). The inheritance of the mutation can be homozygous or heterozygous in conjunction with another hemoglobin mutation (Sanyaolu et al., 2020). Screening for HbS after delivery is currently mandatory in the United States. It is a case-finding method that enables providers to initiate early treatment and control.

Hemoglobin electrophoresis is one of the available genetic tests I would use to screen and diagnose individuals with SCD. This chromatography technique is one of the important diagnostic tests used to detect Hb variants (Arishi et al., 2021). An electrical field is applied to aid the movement of electrically charged molecules. Various pH and mediums are used, either cellulose acetate electrophoreses at alkaline pH or citrate agar at acidic pH, which help identify hemoglobin variants.

Hemoglobin electrophoresis distinguishes persons who are homozygous for HbS from heterozygous. It confirms the diagnosis of SCD by showing a single band of HbS (in HbSS) or HbS with another mutant hemoglobin in compound heterozygotes (Arishi et al., 2021). If the electrophoresis results show only HbS with an HbF concentration below 30%, the diagnosis is sickle cell anemia for children with normocytic hemolytic anemia. However, if HbS and HbC are found almost equal amounts, the diagnosis is HbSC.

The DNP-prepared nurse can apply the information on SCD screening by recommending the Hemoglobin electrophoresis test to newborns. The screening results can help the DNP identify the appropriate treatment interventions and provide health education to parents on how the child will be managed, thus reducing mortality rates (Brandow et al., 2022). The DNP can also use the test to detect the Hb variants present in the patients and use the results to make a diagnosis and develop treatment plans.

References

Arishi, W. A., Alhadrami, H. A., & Zourob, M. (2021). Techniques for the detection of sickle cell disease: a review. Micromachines, 12(5), 519. . https://doi.org/10.3390/mi12050519

Brandow, A. M., & Liem, R. I. (2022). Advances in the diagnosis and treatment of sickle cell disease. Journal of hematology & oncology, 15(1), 20. https://doi.org/10.1186/s13045-022-01237-z

Sanyaolu, A., Agiri, E., Bertram, C., Brookes, L., Choudhury, J., Datt, D., Ibrahim, A., Maciejko, A., Mansfield, A., Nkrumah, J., & Williams, M. (2020). Current modalities of sickle cell disease management. Blood science (Baltimore, Md.), 2(4), 109–116. https://doi.org/10.1097/BS9.0000000000000056

Christina Atkins Whyte

replied toCarolyn Smith

Jun 22, 2022, 1:16 PM

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Hi Carolyn,

Your post is very informative and we can utilize this information to help individuals screen for the sickle cell disease or trait. I concur with you that as DNP we can utilize the results to treat our patients appropriately. We can also provide education for the patients and their family members that will improve their quality of life and lifespan. Providing quality care and improve patient outcomes are our responsibilities.

Carolyn Smith

replied toChristina Atkins Whyte

Jun 22, 2022, 11:04 PM

Replies to Christina Atkins Whyte

Hello Beverly! This is an exceptional post about Down syndrome (DS). This condition is succinctly described and the diagnostics tests are clearly illustrated. As you indicated, incorporating a multidisciplinary team and parental awareness is crucial in this condition. However, parental involvement is critical from the moment the child is born with DS. Parents are advised to seek early intervention, which is a system of services created to assist toddlers and infants with disabilities and their families. This system is protected by federal law through the Individuals with Disabilities Education Act (IDEA) (Dragoo, 2019). The Act requires healthcare professionals to work with the family of the child living with a disability to create an Individualized Family Services Plan (IFSP). IFSP portrays the unique status of the child and the services needed to address those needs. It also illustrates the unique needs of the family to enable

DNP-810 Topic 2 DQ 2 Refer to the complex inheritance health issue identified in DQ 1

parents and other family members to determine how to help the child with DS (Russo, 2019). Parental education is also crucial in enabling the identification of specific health-related issues such as respiratory problems, visual issues, speech difficulty, hearing loss, gastrointestinal tract problems, and heart defects.

References

Dragoo, K. E. (2019). The Individuals with Disabilities Education Act (IDEA), Part C: Early Intervention for Infants and Toddlers with Disabilities. CRS Report R43631, Version 11. Updated. Congressional Research Service. https://eric.ed.gov/?id=ED597894

Russo, C. J. (2019). The rights to educational self-determination under the Individuals with Disabilities Education Act. International Journal of Inclusive Education, 23(5), 546-558. https://doi.org/10.1080/13603116.2019.1580926

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Grading Rubric Guidelines

Performance Category	10	9	8	4	0
Scholarliness Demonstrates achievement of scholarly inquiry for professional and academic decisions.	Provides relevant evidence of scholarly inquiry clearly stating how the evidence informed or changed professional or academic decisions Evaluates literature resources to develop a comprehensive analysis or synthesis. Uses valid, relevant, and reliable outside sources to contribute to the threaded discussion	Provides relevant evidence of scholarly inquiry but does not clearly state how the evidence informed or changed professional or academic decisions. Evaluates information from source(s) to develop a coherent analysis or synthesis. Uses some valid, relevant, reliable outside sources to contribute to the threaded discussion.	Discusses using scholarly inquiry but does not state how scholarly inquiry informed or changed professional or academic decisions. Information is taken from source(s) with some interpretation/evaluation, but not enough to develop a coherent analysis or synthesis. Little valid, relevant, or reliable outside sources are used to contribute to the threaded discussion. Demonstrates little or no understanding of the topic.	Discusses using scholarly inquiry but does not state how scholarly inquiry informed or changed professional or academic decisions. Information is taken from source(s) without any interpretation/evaluation. The posting uses information that is not valid, relevant, or reliable	No evidence of the use of scholarly inquiry to inform or change professional or academic decisions. Information is not valid, relevant, or reliable
Performance Category	10	9	8	4	0
Application of Course Knowledge – Demonstrate the ability to analyze, synthesize, and/or apply principles and concepts learned in the course lesson and outside readings and relate them to real-life professional situations	Posts make direct reference to concepts discussed in the lesson or drawn from relevant outside sources; Applies concepts to personal experience in the professional setting and or relevant application to real life.	Posts make direct reference to concepts discussed in the lesson or drawn from relevant outside sources. Applies concepts to personal experience in their professional setting and or relevant application to real life Interactions with classmates are relevant to the discussion topic but do not make direct reference to lesson content	Posts are generally on topic but do not build knowledge by incorporating concepts and principles from the lesson. Does not attempt to apply lesson concepts to personal experience in their professional setting and or relevant application to real life Does not demonstrate a solid understanding of the principles and concepts presented in the lesson	Posts do not adequately address the question posed either by the discussion prompt or the instructor’s launch post. Posts are superficial and do not reflect an understanding of the lesson content Does not attempt to apply lesson concepts to personal experience in their professional setting and or relevant application to real life	Posts are not related to the topics provided by the discussion prompt or by the instructor; attempts by the instructor to redirect the student are ignored No discussion of lesson concepts to personal experience in the professional setting and or relevant application to real life
Performance Category	5	4	3	2	0
Interactive Dialogue Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts a minimum of two times in each graded thread, on separate days. *(5 points possible per graded thread)*	Exceeds minimum post requirements Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts three or more times in each graded thread, over three separate days. Replies to a post posed by faculty and to a peer Summarizes what was learned from the lesson, readings, and other student posts for the week.	Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts a minimum of two times in each graded thread, on separate days Replies to a question posed by a peer Summarizes what was learned from the lesson, readings, and other student posts for the week.	Meets expectations of 2 posts on 2 different days. The main post is not made by the Wednesday deadline Does not reply to a question posed by a peer or faculty	Has only one post for the week Discussion posts contain few, if any, new ideas or applications; often are a rehashing or summary of other students’ comments	Does not post to the thread No connections are made to the topic
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Also Check Out: DNP-810 Topic 2 DQ 1 Identify a complex inheritance health issue you encountered in your clinical practice or personal life