DNP 801 Topic 4 DQ1
Topic 4: Personalized Genetic Medicine
Objectives:
1. Analyze the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
2. Analyze genetic/genomic factors that contribute to variability of response to pharmacologic agents.
Topic 4 DQ 1
In the past decade there have been many advances in genetics and genomics and their application to health screening, diagnosis, treatment, and prognosis. What recent advancement do you believe is the most significant for your clinical practice? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 4 DQ 2
Genetic/Genomic factors are known to contribute to variability of pharmacologic responses in
some patients. How does the variability of responses result in tailoring pharmacologic agents to the care of these patients? Explain. Support your rationale with a minimum of two scholarly sources.
Assignment – Genetic Counseling
With the increase in knowledge around genetic issues, it is important that all health care providers are prepared to have thorough genetic-based discussions now with their patients. In this assignment, you will synthesize your knowledge into a client case with a real or potential genetic health-related illness.
General Guidelines:
Use the following information to ensure successful completion of the assignment:
- This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
- Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
- This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
- You are required to submit this assignment to Lopeswrite. A link to the Lopeswrite technical support articles is located in Class Resources if you need assistance.
Directions:
Write a paper (1,000-1,250 words) addressing a client case that might benefit from the process of genetic counseling. Describe the reason for the genetic counseling based on the findings from your completion of the family health portrait. Discuss the possible reactions the patient may have to your counseling and how to avoid negative reactions. Imagine this assignment as if you are giving
this counseling to a patient and be sure to discuss the following:
1. Health
2. Prevention
3. Screening
4. Diagnostics
5. Prognostics
6. Selection of treatment
7. Monitoring of treatment effectiveness
Sample 1 Topic 4 DQ1
There has been an extraordinary medical advancement in the knowledge of the human genome and its role in health and disease. Making sense of genomic data requires computational technologies and databases to evolve parallel with sequencing technologies. Both technologies enable an ever-increasing capacity for accurately diagnosin existing diseases and developing effective and targeted treatment strategies (Logsdon et al., 2020). In addition, genomic analysis provides opportunities for new approaches to therapeutic development, health care delivery, and
population health management (Logsdon et al., 2020). The medical and scientific communities worldwide are just starting to seize the transformative opportunities that personalized, precision genomic medicine offers.
A monumental medical breakthrough has been the ability to sequence the DNA in cancer cells. The sequence can be compared to the arrangement found by the Human Genome Project (Gibbs,
2020). This allows scientists to determine which genes are mutated, giving them ideas for developing medicines (Gibbs, 2020). Genome-wide sequencing is also being applied to the analysis of circulating DNA in the plasma of cancer patients and individuals with other diseases (Siegel et al., 2018). DNA sequencing involves the patients’ tumor tissue being scanned for hundreds of mutations or other abnormalities linked to cancer (Siegel et al., 2018). These specific
scanning outcomes can prove indicative for patients who provide eligibility for clinical trials capitalizing upon targeted therapeutics which can pave the way for potential new treatments, which are currently undertaking examinations.
In addition, DNA sequencing can also undergo employment for the appropriate determination of
patients at potential risk of cancers passed down by means of inheritance. For instance, cellular identification of mutations occurring within either the BRCA@ or BRCA1 gene serves as indicative when concerning an individual’s probability of developing cancers associated with those mutations (Siegel et al., 2018). If so, there are a variety of measures such individuals can take to reduce their risk. The strengths of this technology enable non-invasive tumor detection and monitoring responses to therapy that promises to significantly improve patient management (Siegel et al., 2018). To further illustrate, the abilities provided by genomic sequencing broaden the potential in the works for both therapies as well as diagnostics (Siegel et al., 2018).
References
Gibbs, R. A. (2020). The human genome project changed everything. Nature Reviews Genetics, 21(10), 575-576.
Logsdon, G. A., Vollger, M. R., & Eichler, E. E. (2020). Long-read human genome
sequencing and its applications. Nature Reviews Genetics, 21(10), 597-614.
Siegel, M. B., He, X., Hoadley, K. A., Hoyle, A., Pearce, J. B., Garrett, A. L., & Perou, C. M. (2018). Integrated RNA and DNA sequencing reveal early drivers of metastatic breast cancer. The Journal of clinical investigation, 128(4), 1371-1383.
Sample 2 Topic 4 DQ1
Understanding the human genome and sequencing has opened the door to many healthcare advances. Screening and prevention can be targeted to at-risk groups based on inherited genes, traits, and susceptibilities. Additionally, using genetic information, medications and treatments can be targeted to specific groups based on genomic information. Much of this information, however, has been obtained from people of European descent, thus leaving minority groups out (Henderson et al., 2018). American Indians are an underrepresented group as it relates to studying disease, effective treatments, and pharmacogenetics. Without being included in the studies for precision medicine, this group may not see the benefit and have treatments or medications tailored to their unique genetic make-up. Using the concept of precision medicine avoids the cookie-cutter approach to disease management. Rather, this type of medicine focuses on genetic makeup, environment, and lifestyle.
The advancement of applying genetic information, especially as it relates to unique individual genetics is a remarkable advancement. Working in an ICU, many patients tend to display acute effects of long-term diseases. When left untreated or undertreated, chronic diseases, such as diabetes mellitus, can damage other organs, such as kidneys, vascular system, or the heart. With three American Indian reservations being served by the institution I work at; the critical care unit tends to see a disproportionate number of American Indians compared to those of other descents. Commonly, the complications being experienced by this collective group is due to uncontrolled diabetes. Often it is due to renal failure, peripheral vascular disease, or coronary artery disease. Compared to Non-Hispanic whites, American Indians and Alaska Natives are 2.3 times more
likely to die from diabetes (US Department of Health and Human Services Office of Minority Health, 2021). While there is still work being conducted on diabetes and American Indians and Alaska Natives, there are known genes that explain the genetic predilection for diabetes, such as cHOMA-B and GCK (Balakrishnan et al., 2018). While there is still research being conducted on the genetic connection of diabetes, this is an area of hope to reduce the effects of this disease with targeted interventions and medications based on specific genetic makeup.
References
Balakrishnan, P., Vaidya, D., Voruganti, V. S., Haack, K., Kent, J. W., North, K. E., Laston, S.,
Howard, B. V., Umans, J. G., Lee, E. T., Best, L. G., MacCluer, J. W., Cole, S. A., Navas-Acien, A. & Franceschini, N. (2018). Genetic variants related to cardiometabolic traits are associated to B cell function, insulin resistance, and diabetes among AmeriCan Indians: the strong heart family study. Frontiers in Genetics, 9. Doi:10.3389/fgene.2018.00466
Henderson, L. M., Claw, K. G., Woodahl, E. L., Robinson, R. F., Boyer, B. B., Burke, W., Thummel, K. E. (2018). P450 pharmacogenetics in indigenous North American Populations. Journal of Personalized Medicine, 8(1), 9. Doi: 10.2290/jpm8010009.
US Department of Health and Human Services Office of Minority Health. (2021, March 1st). Diabetes and American Indians/Alaska Natives. https://minorityhealth.hhs.gov/omh/browse.aspx?lvl=4&lvlid=33.
Sample 1 Topic 4 DQ2
The reaction of patients to medical treatment is inspired by a variety of physiological, pathological, environmental, and genetic factors. These individual differences can lessen the
effectiveness of treatment and manifest in adverse drug reactions (ADRs), which can cause some hospitalization. Generally, the genetic makeup of a patient accounts for 20–30% of the inter-individual variability in drug response. For example, in metoprolol and torsemide, twin studies suggested genetic contributions to the variability in their pharmacokinetics of up to 90% (Ingelman-Sandberg et al., 2018). Pharmacogenetics is primarily concerned with human germline DNA variation but there have also been important recent advances in understanding variation in tumor DNA, especially in the design of drugs that target mutated genes within tumors. Current pharmacogenetics knowledge can be considered on an individual gene (Daly, 2017).
In recent years, increasing capacities and decreasing costs of next-generation sequencing (NGS)
platforms have facilitated large-scale studies of genetic variation and NGS assays are becoming increasingly implemented in clinical diagnostics. They combine genes and drugs specified for the contributions of rare variants. Information can be used to determine genes for which sequencing-based can add critical information to predict drug response, which provides useful information for the design of clinical trials in drug development and the personalization of
pharmacological treatment (Ingelman-Sandberg et al., 2018).
Particularly, in cancer therapy, genetic variation in drug targets has been recognized to play a
crucial role in treatment success. Information on somatic variants from tumor samples is thus increasingly used to enable research on drug design and to implement stratified or personalized cancer therapy. About three in five Americans aged 20 years and above take prescription drugs every month and many either encounter adverse drug reactions or reduced treatment efficacy.
The strong genetic component of altered drug response in patients is well known and attributed to variants affecting drug pharmacokinetics (PK) and pharmacodynamics (PD). Methods to identify these genetic determinants have been developed in population or individualized settings. Specifically, the huge amount of genetic information now available has allowed the systematic
study of inter-individual differences in drug response using genome-wide association (GWA) studies. Results of these efforts have led to the pharmacogenomics labeling of 170 drugs by the Food and Drug Administration (FDA and the establishment of pharmacogenomics screening in many large hospitals in the US and Europe.
Large-scale sequencing efforts can be utilized to identify and quantify the extent of genetic variation in genes relevant for drug action and metabolism. Identification of such variants is the first step toward the improvement of treatment decisions. Newly identified variants of pharmacogenomic significance, require validation and updated dosing guidelines. The development of quality-controlled and patient-centered software solutions to combine available knowledge of pharmacologically actionable variants with a patient’s genome, as well as rapid and accurate approaches to functional variants, will be valuable for the future of personalized medicine (Sharfe et al 2021).
References
Daly, A. K. (2017). Pharmacogenetics: a general review on progress to date. British Medical Bulletin, 124(1), 65–79. https://doi.org/10.1093/bmb/ldx035
Ingelman-Sundberg, M., Mkrtchian, S., Zhou, Y., & Lauschke, V. M. (2018). Integrating rare
genetic variants into pharmacogenetic drug response predictions. Human Genomics, 12(1). https://doi.org/10.1186/s40246-018-0157-3
Schärfe, C. P. I., Tremmel, R., Schwab, M., Kohlbacher, O., & Marks, D. S. (2017).
Genetic variation in human drug-related genes. Genome Medicine, 9(1). https://doi.org/10.1186/s13073-017-0502-5
Sample 2 Topic 4 DQ2
Genetics influence alterations to the intended pharmacological responses in some patients. For
instance, the metabolism of the drug can interact with genetic factors and an individual’s age, gender, disease, concurrent medications, ethnicity, and other social factors. Pharmacogenetics can be utilized to study how a person’s genes may affect their response to drugs and therefore alter the pharmacological agent used. Drug reactions and variability of drug efficacy is found to be caused by polymorphisms in genes encoding proteins. Recent technologies have the ability to analyze genetics to identify variants that may pose a threat to drug response and action (Laushchke et.al. 2017).
The long term goal of pharmacogenetics is to aid physicians in identifying the correct medications for each individual patient. Pharmacogenetics utilizes genotype testing such as
PCR-RFLP analysis, pyrosequencing, TaqMan, and mass spectrometry. Upon genomic testing, the scientist reviews and analyzes liver enzymes for modifications as they can chemically change drugs if a enzyme such as CYP2D6 is discovered. Pharmacogenetics is now also included in medications approved by the Food and Drug Administration (FDA) and is continuously researched through the National Institutes of Health (NIH). A provider may considered a patient’s liver and kidney function prior to administering drugs and should always continue to monitor the effects of the medication as alterations can enhance or decrease the effects of a drug (U.S Department of Health and Human Services, n.d).
References
Lauschke, V. M., Milani, L., & Ingelman-Sundberg, M. (2017). Pharmacogenomic
biomarkers for improved drug therapy—recent progress and future developments. The AAPS Journal, 20(1). https://doi.org/10.1208/s12248-017-0161-x
U.S. Department of Health and Human Services. (n.d.). National Institute of General Medical Sciences (NIGMS). National Institute of General Medical Sciences. Retrieved July 3, 2022, from https://nigms.nih.gov/education/fact-sheets/Pages/pharmacogenomics.aspx
Our team of expert nursing writers at Nursing Assignment Service can help you with your DNP 801 Topic 4 DQ1, place your order here.
