International Journal of Clinical Case Reports 2024, Vol.14, No.1, 40-47 http://medscipublisher.com/index.php/ijccr 45 Immunotherapy is a treatment method that utilizes the patient's own immune system to attack cancer cells. Genome analysis can help identify the immune escape mechanisms of tumors and immune-related genetic variations, such as PD-L1. With this information, appropriate immune checkpoint inhibitors (such as PD-1 inhibitors, PD-L1 inhibitors) or other immunotherapeutic drugs (Figure 4) can be selected to enhance the patient's immune response and promote tumor suppression. Figure 4 PD-1 inhibitors and PD-L1 inhibitors against cancer Genome-driven personalized drug therapy can also employ a strategy of combination therapy. By analyzing the tumor genome, abnormal expression or mutations in multiple driver genes can be identified, and these genes may be involved in different signaling pathways. Therefore, using drugs that target different driver genes in combination can simultaneously inhibit multiple key pathways, increasing the effectiveness of treatment. Genome-driven personalized drug therapy can also be used to monitor and adjust resistance in treatment plans. By regularly analyzing the evolution of the tumor genome, new mutations in driver genes or other mechanisms of drug resistance can be detected. Based on this information, drug selection, dosage, or the introduction of new drugs can be adjusted to overcome the development of resistance. 3.2 Treatment of genetic diseases Genome-driven personalized drug therapy holds vast prospects and potential in the treatment of genetic diseases. Through the analysis of individual genomes, a better understanding of the pathogenic mechanisms of genetic diseases can be achieved, guiding the formulation of treatment strategies and providing more precise and effective treatment options for patients. The complexity of treating genetic diseases is high, with significant variations in genetic mutations and treatment responses among individuals. Therefore, more research and clinical practice are needed to refine personalized treatment strategies. For some known genetic diseases, specific gene mutations have been identified as the primary causes of the diseases. Through the analysis of a patient's genome, the mutation types of these disease-related genes can be determined, and appropriate drugs can be selected for treatment. For instance, for specific gene mutations associated with Polycystic Kidney Disease, there are ongoing research and development efforts for treatment strategies. In addition to known gene mutations, genetic variations among individuals can also impact the effectiveness of drug treatments. Through genomic analysis, genetic variations in genes related to drug-metabolizing enzymes, drug targets, or drug transport proteins in patients can be identified. Based on this information, drug dosages can be adjusted, medications with specific metabolic pathways can be selected, or the use of drugs sensitive to particular gene mutations can be avoided, thereby optimizing treatment effectiveness and reducing adverse drug reactions. Some hereditary diseases occur due to impaired DNA repair mechanisms. For such diseases, genomic-driven treatment strategies can be employed to repair or enhance the patient's DNA repair mechanisms. For example, in the case of mutations in genes such as BRCA1 or BRCA2, PARP inhibitors can be used to interfere with the DNA repair capability of tumor cells, thereby achieving therapeutic effects.
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