مقالات پذیرفته شده در نهمین کنگره بین المللی زیست پزشکی
The Role of Genetic Testing in Personalized Cancer Therapy
The Role of Genetic Testing in Personalized Cancer Therapy
Hoda Dinko,1,*
1. Iran university medical of science
Introduction: Personalized treatment, sometimes also known as precision oncology, has revolutionized cancer care. Rather than taking a single approach to treat all patients, treatment is more and more tailored to the patient's genetic makeup of his or her tumor. The idea is that this will make treatment more effective and minimize side effects.
Genetic testing stands at the center of this evolution. By recognizing specific mutations in cancer, physicians can select treatments with better success rates. They can detect a very large number of clinically significant mutations more precisely because of the availability of advanced technologies like next-generation sequencing (NGS), whole-exome sequencing (WES), and targeted gene panels. Genetic alterations including mutations in genes EGFR, KRAS, BRAF, and BRCA1/2 are increasingly being utilized to inform targeted therapy decisions, and, in certain instances, immunotherapy decisions.
Despite all the advances, cost, availability in some health care environments, and technical burden of processing large amounts of genetic information continue to pose challenges. This review examines the effect of genetic testing on personalized cancer treatment and reflects on its influence on clinical practice.
Methods: A narrative literature review was performed by looking for databases such as PubMed, Scopus, and Google Scholar. The keywords used in the search were genetic testing, targeted therapy, personalized cancer therapy, and biomarkers. Articles between 2015 and 2025 were reviewed. Articles included original research, clinical trials, and review articles explaining how genetic testing informs cancer treatment. Pertinent studies were evaluated to summarize present usage, advantages, and limitations.
Results: Genetic testing has evolved significantly in the detection of actionable mutations in multiple cancers. In non-small cell lung cancer (NSCLC), for instance, EGFR mutations have been demonstrated to be capable of predicting sensitivity to tyrosine kinase inhibitors such as gefitinib and erlotinib. In colorectal cancer, KRAS mutation testing identifies patients who are most likely to benefit from monoclonal antibody therapy.
The advent of NGS has been the giant step. Through the simultaneous investigation of a number of genes, NGS boosts efficiency and allows for the detection of uncommon but clinically significant mutations that may be amenable to targeting or investigational and deserving of intervention. Concurrent with this, liquid biopsies—analysis for circulating tumor DNA (ctDNA) in the bloodstream of a patient—have become a minimally invasive method for monitoring the course of a disease, detecting residual disease, and reporting resistance mutations in real-time.
Genetic testing also plays an important function beyond the choice of treatment. Carriers of high-risk genes like BRCA1/2 or MLH1 have their risk minimized by increased monitoring and chemoprevention and have lower chances of advancing to advanced disease. Pharmacogenomic testing is another individualizing factor where it regulates drug dosage and minimizes the risk of side effects of drugs, thereby optimizing patient safety.
Even with these advantages, universal application of genetic testing is still hindered by challenges. Unaffordability and unequal access, especially in resource-poor areas, restrict its use. It requires specialized knowledge to interpret genomic data, which may not always be available. Ethical challenges also need to be addressed, such as the delivery of informed consent, confidentiality for patients, and how the psychological impact of genetic information on patients and relatives can be addressed.
Conclusion: Genetic testing has become a standard feature of contemporary cancer treatment, allowing medications to be chosen based on the molecular profile of an individual's tumor. Advances in technology like NGS and liquid biopsy have opened the door to genomic knowledge being brought to the clinic. While issues of cost, access, and data interpretation persist, research and international collaboration still promise to make targeted cancer therapy available to all. Finally, all these advances are leading the way towards better results and better cancer care globally.