DNP 810 Topic 4 DQ 1 Describe one genetic test and its impact on health prevention screening diagnostics treatment selection and treatment effectiveness

DNP 810 Topic 4 DQ 1 Describe one genetic test and its impact on health prevention screening diagnostics treatment selection and treatment effectiveness

DNP 810 Topic 4 DQ 1 Describe one genetic test and its impact on health prevention screening diagnostics treatment selection and treatment effectiveness

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.

An advancement that I consider the most significant in my clinical practice is recombinant DNA technology. It has played an important role in improving population health through the development of pharmaceuticals and new vaccines. It also adds to the management strategies in the home health setting through the development of diagnostic kits, monitoring devices, and new approaches in therapy (Horton & Lucassen, 2019).The technology revolutionized home health practice and provided new opportunities for the production of a broad range of therapeutic products that play a great role against lethal human diseases. According to Aggarwal (2021), the most recognized forms of therapy include; vaccines, insulin, human growth hormones, and antibiotics such as penicillin’s. For instance, in the home health setting, insulin, a therapeutic agent, plays a huge role in the management of type 1 DM, and to increase sensitivity of pancreatic cells to metformin in patients with type 2 DM, for better glycemic control. 

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Using the same technology, scientists have developed and combined vectors for genetic modification and gene therapy. In gene therapy, scientists make site-specific modifications to a single genome with the intent of correcting an altered (mutated) gene or to make modifications that are specific to a site and target therapeutic management (Horton & Lucassen, 2019).The approach to gene therapy is wide with the potential for managing illnesses that occur as a result of recessive gene disorders. The most significant diseases in this category include; sickle cell anemia, cystic fibrosis, hemophilia, and muscular dystrophy, for which we closely monitor and follow-up patient in the home health setting. Aggarwal (2021) highlights that presently, there is ongoing research for different forms of gene therapy to replace maladaptive and defective genes that are associated with monogenic diseases such as sickle cell anemia and cystic fibrosis, to alter or kill aberrant cancer and HIV cells, and in the management of hepatitis C, to induce the production of therapeutic proteins.


Aggarwal, S. (2021). Biotechnology Applications In Medicine. International Journal of Social Science and Economic Research6(10).

Horton, R. H., & Lucassen, A. M. (2019). Recent developments in genetic/genomic medicine. Clinical Science133(5), 697-708. Doi: 10.1042/CS20180436. PMID: 30837331; PMCID: PMC6399103.

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 diagnosing 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).


Gibbs, R. A. (2020). The human genome project changed everything. Nature Reviews Genetics21(10), 575-576.

Logsdon, G. A., Vollger, M. R., & Eichler, E. E. (2020). Long-read human genome sequencing and its applications. Nature Reviews Genetics21(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 investigation128(4), 1371-1383.

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