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 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.