information about a patient to create a treatment that is tailored to his or her tumor. In fact, researchers are already integrating multiple molecular aspects of a patient’s tumor to determine characteristics that can improve cancer diagnosis; to identify drug targets that can treat cancer precisely; and to establish features that can predict treatment responses and outcomes accurately (111). In the United States, NCI is playing a vital role in supporting research in precision cancer medicine (see Sidebar 9, p. 37). For example, results from NCI’s initial investments in the Clinical Proteomic Tumor Analysis Consortium (CPTAC) are laying the foundation for the next horizon in precision medicine, called proteogenomics (112). Proteogenomics is the study of how information about the genome of a cancer cell relates to the proteins made by that cell. This includes understanding how genes control when proteins are produced and what changes occur to proteins after they are made that may switch them on and off. Proteogenomics research can help us learn more about which proteins are involved in certain diseases, such as cancer, and may also be used to help develop new drugs that block these proteins. In a recent study, researchers performed proteogenomic profiling of tumor samples from patients with early esophageal cancer—an aggressive type of cancer, whose underlying biology is not well known. Findings of the study uncovered six distinct molecular signatures that may be related to the development of esophageal cancer, and identified a protein involved in energy production by cells as a novel drug target (113). Several recent studies have carried out similar analyses for other diseases such as gastric cancer (114), glioma (115), leukemia (116), breast cancer (117), and bladder cancer (118), among others. Researchers can now use this information to further refine approaches to diagnose and treat these cancers. Precision medicine holds immense promise to deliver better outcomes with reduced toxicity for patients with cancer. However, many questions remain unanswered such as the cost effectiveness of such multidimensional profiling and the extent to which such profiling improves outcomes for individuals (119). It is vital that stakeholders across cancer science, medicine, and public health work together to ensure that all patients with cancer can equitably benefit from breakthroughs being made in cancer care by precision medicine approaches (120). Precision Medicine Precision medicine, also called personalized medicine, is broadly defined as treating patients based on characteristics that distinguish them from other individuals with the same disease. As shown in the figure, the factors that contribute to the uniqueness of a patient and his or her cancer include, but are not limited to, the person’s and tumor’s genome, epigenome, transcriptome, proteome, microbiome, metabolome, the immune characteristics of the person and of cancer, disease presentation, gender, ancestry, exposures, lifestyle, and comorbidities. Currently, genomics is the predominant factor influencing precision medicine, but as we learn more about the additional factors, such as epigenomics, proteogenomics, metabolomics and tumor immune characteristics, we have begun to integrate this knowledge to further refine the personalized approach to cancer treatment. Although genomic and epigenomic profiling of a patient and of his or her tumor is becoming a routine in the clinic, it is important to note that the cost effectiveness of comprehensive profiling that includes all the other characteristics shown in the figure still needs to be evaluated, alongside ongoing efforts to define which and to what extent profiling improves outcomes for individuals. Precision medicine Patients diagnosed with cancer Patient’s profile determines best treatment strategy Generate patient’s personal and cancer profile Known factors contributing to the uniqueness of each person and his or her cancer Family History Gender and Age Lifestyle and Environmental Exposures Ancestry Microbiome Immune Profile Reproductive and Medical Factors and Comorbidities Metabolic Profile Socioeconomic Status Disease Presentation Genome and Epigenome of Patient and Tumor Geography Proteogenome FIGURE 6 AACR Cancer Progress Report 2023 Understanding the Path to Cancer Development 36
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