Jamalinia Mohamad, Weiskirchen Ralf
Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH University Hospital Aachen, Aachen, Germany.
Ann Transl Med. 2025 Apr 30;13(2):18. doi: 10.21037/atm-25-34. Epub 2025 Apr 29.
Personalized medicine has revolutionized cancer treatment by utilizing genomic insights to tailor therapies based on individual molecular profiles. This approach enhances therapeutic efficacy, minimizes adverse effects, and addresses tumor heterogeneity through precision-targeted interventions.
A scoping review was conducted through a comprehensive literature search in PubMed, using MeSH terms and keywords related to genomic profiling and targeted cancer therapies. Eligible studies included original research involving cancer patients who underwent genomic profiling and targeted therapies from January 1, 1950, to February 9, 2025.
Advances in next-generation sequencing (NGS) and bioinformatics have accelerated the identification of clinically relevant mutations-such as epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) and BRAF V600E in melanoma-enabling the development of effective targeted therapies. Emerging technologies like clustered regularly interspaced short palindromic repeats (CRISPR) gene editing and artificial intelligence (AI) are further refining treatment selection by enabling more precise and adaptive therapeutic strategies. Despite these innovations, challenges persist regarding data interpretation, equitable access, costs, regulatory frameworks, and integration into routine clinical workflows.
Genomic profiling is central to the advancement of precision oncology. The convergence of genomics, gene editing, and AI is paving the way toward more personalized, efficient, and inclusive cancer care. Realizing the full potential of personalized medicine will require interdisciplinary collaboration, investment in infrastructure, and ethical oversight to ensure broad, equitable, and responsible implementation in clinical practice.
个性化医疗通过利用基因组学见解，根据个体分子特征量身定制治疗方案，彻底改变了癌症治疗方式。这种方法提高了治疗效果，将副作用降至最低，并通过精准靶向干预应对肿瘤异质性。
通过在PubMed中进行全面的文献检索开展一项范围综述，使用与基因组分析和靶向癌症治疗相关的医学主题词（MeSH）和关键词。符合条件的研究包括涉及1950年1月1日至2025年2月9日期间接受基因组分析和靶向治疗的癌症患者的原始研究。
下一代测序（NGS）和生物信息学的进展加速了临床相关突变的识别，如非小细胞肺癌（NSCLC）中的表皮生长因子受体（EGFR）和黑色素瘤中的BRAF V600E，从而推动了有效靶向治疗的开发。像成簇规律间隔短回文重复序列（CRISPR）基因编辑和人工智能（AI）等新兴技术通过实现更精确和适应性更强的治疗策略，进一步优化治疗选择。尽管有这些创新，但在数据解读、公平获取、成本、监管框架以及融入常规临床工作流程方面仍存在挑战。
基因组分析是精准肿瘤学发展的核心。基因组学、基因编辑和人工智能的融合为更个性化、高效和包容的癌症护理铺平了道路。要充分发挥个性化医疗的潜力，需要跨学科合作、对基础设施的投资以及伦理监督，以确保在临床实践中广泛、公平和负责任地实施。
