Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 279-293 http://medscipublisher.com/index.php/cge 288 9 Concluding Remarks Genetic diagnosis has emerged as a pivotal tool in the early detection of breast cancer, offering a more precise and personalized approach compared to traditional methods. The heterogeneity of breast cancer necessitates advanced diagnostic techniques that can identify specific genetic mutations and expression profiles. Genetic testing, including multigene assays (MGAs), has shown significant promise in early-stage breast cancer by aiding in the selection of adjuvant therapy and predicting prognosis. Additionally, the identification of genetic and epigenetic factors responsible for the predisposition to breast cancer can facilitate early detection, especially in younger women. The integration of genetic testing with conventional diagnostic methods can enhance the accuracy and effectiveness of breast cancer screening, ultimately leading to better patient outcomes. The future of genetic testing technologies in breast cancer screening is poised for significant advancements. Emerging techniques such as cell-free tumor DNA (ctDNA) testing and blood-based mRNA assays are gaining traction due to their non-invasive nature and potential for early detection. ctDNA analysis, for instance, can capture a comprehensive portrait of tumor heterogeneity and monitor therapy response, making it a promising tool for early cancer detection and screening. Similarly, blood-based mRNA tests offer advantages over tissue-based tests, including minimal invasiveness and cost-efficiency, and can detect breast cancer well before conventional diagnostic approaches. The development of highly sensitive and specific biosensors and biomarkers, along with next-generation sequencing (NGS) technologies, will further enhance the precision and reliability of genetic testing in breast cancer screening. To fully realize the potential of genetic diagnosis in breast cancer screening, several policy recommendations and healthcare system reforms are necessary. There should be increased funding and support for research and development of advanced genetic testing technologies. This includes investment in large-scale studies to validate the efficacy and cost-effectiveness of these technologies. Healthcare systems should integrate genetic testing into routine breast cancer screening programs, ensuring that these tests are accessible and affordable for all patients. There should be standardized guidelines and protocols for the use of genetic tests in clinical practice, including training for healthcare professionals to interpret and utilize genetic data effectively. Public awareness campaigns are essential to educate patients about the benefits of genetic testing and encourage participation in screening programs. By implementing these recommendations, healthcare systems can improve early detection rates and ultimately reduce breast cancer mortality. Acknowledgments Sincere thanks to the peer reviewers for their valuable feedback on the initial draft of this manuscript. Conflict of Interest Disclosure The author affirms that this research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest. References Alix-Panabières C., and Pantel K., 2016, Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy, Cancer Discovery, 6(5): 479-491. https://doi.org/10.1158/2159-8290.CD-15-1483 PMID: 26969689 Allweis T.M., Hermann N., Berenstein-Molho R., and Guindy M., 2021, Personalized screening for breast cancer: rationale, present practices, and future directions, Annals of Surgical Oncology, 28(8): 4306-4317. https://doi.org/10.1245/s10434-020-09426-1 PMID: 33398646 Antoniou A., Pharoah P.D.P., Narod S., Risch H.A., Eyfjord J.E., Hopper J.L., Loman N., Olsson H., Johannsson O., Borg Å., Pasini B., Radice P., Manoukian S., Eccles D.M., Tang N., Oláh E., Anton-Culver H., Warner E., Lubiński J., Gronwald J., Górski B., Tulinius H., Thorlacius S., Eerola H., Nevanlinna H., Syrjakoski K., Kallioniemi O.P., Thompson D., Evans C., Peto J., Lalloo F., Evans D.G., and Easton D.F., 2003, Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies, American Journal of Human Genetics, 72(5): 1117-1130. https://doi.org/10.1086/375033 PMID: 12677558 PMCID: PMC1180265
RkJQdWJsaXNoZXIy MjQ4ODYzNQ==