Division of Hematology and Oncology, Department of Medicine, The University of Illinois at Chicago, Chicago, Illinois.
Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, Illinois.
CA Cancer J Clin. 2022 Jul;72(4):315-332. doi: 10.3322/caac.21722. Epub 2022 Mar 18.
The integration of genomic data into personalized treatment planning has revolutionized oncology care. Despite this, patients with cancer remain vulnerable to high rates of adverse drug events and medication inefficacy, affecting prognosis and quality of life. Pharmacogenomics is a field seeking to identify germline genetic variants that contribute to an individual's unique drug response. Although there is widespread integration of genomic information in oncology, somatic platforms, rather than germline biomarkers, have dominated the attention of cancer providers. Patients with cancer potentially stand to benefit from improved integration of both somatic and germline genomic information, especially because the latter may complement treatment planning by informing toxicity risk for drugs with treatment-limiting tolerabilities and narrow therapeutic indices. Although certain germline pharmacogenes, such as TPMT, UGT1A1, and DPYD, have been recognized for decades, recent attention has illuminated modern potential dosing implications for a whole new set of anticancer agents, including targeted therapies and antibody-drug conjugates, as well as the discovery of additional genetic variants and newly relevant pharmacogenes. Some of this information has risen to the level of directing clinical action, with US Food and Drug Administration label guidance and recommendations by international societies and governing bodies. This review is focused on key new pharmacogenomic evidence and oncology-specific dosing recommendations. Personalized oncology care through integrated pharmacogenomics represents a unique multidisciplinary collaboration between oncologists, laboratory science, bioinformatics, pharmacists, clinical pharmacologists, and genetic counselors, among others. The authors posit that expanded consideration of germline genetic information can further transform the safe and effective practice of oncology in 2022 and beyond.
将基因组数据整合到个性化治疗计划中彻底改变了肿瘤学的护理模式。尽管如此,癌症患者仍然容易发生高频率的药物不良反应和药物无效,这会影响预后和生活质量。药物基因组学是一个旨在识别导致个体独特药物反应的种系遗传变异的领域。尽管基因组信息在肿瘤学中得到了广泛的整合,但体细胞平台而不是种系生物标志物一直是癌症提供者关注的焦点。癌症患者可能会从体细胞和种系基因组信息的更好整合中受益,尤其是因为后者可以通过为具有治疗限制耐受性和狭窄治疗指数的药物提供毒性风险信息来补充治疗计划。尽管某些种系药物基因,如 TPMT、UGT1A1 和 DPYD,已经被认识了几十年,但最近的关注揭示了现代潜在的新型抗癌药物(包括靶向治疗和抗体药物偶联物)的新型剂量应用,以及更多遗传变异和新的相关药物基因的发现。其中一些信息已经上升到指导临床决策的水平,美国食品和药物管理局的标签指南以及国际社会和管理机构的建议都是如此。这篇综述主要关注关键的新药物基因组学证据和肿瘤学特定的剂量建议。通过整合药物基因组学进行个性化肿瘤学治疗代表了肿瘤学家、实验室科学、生物信息学、药剂师、临床药理学家和遗传咨询师等多学科之间的独特合作。作者认为,进一步考虑种系遗传信息可以在 2022 年及以后进一步改变肿瘤学的安全有效实践。