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Updated: Jun 3, 2026

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
The use of genomic information to optimize cancer chemotherapy
Federico Innocenti1, Nancy J Cox, M Eileen Dolan
1Department of Medicine, Comprehensive Cancer Center, The University of Chicago, Chicago, IL 60637, USA.
Abstract:
The field of pharmacogenomics is focused on the characterization of genetic factors contributing to the response of patients to pharmacological interventions. Drug response and toxicity are complex traits; therefore the effects are likely influenced by multiple genes. The investigation of the genetic basis of drug response has evolved from a focus on single genes to relevant pathways to the entire genome. Preclinical (cell-based models) and clinical genome-wide association studies (GWAS) in oncology provide an unprecedented opportunity for a comprehensive and unbiased assessment of the heritable factors associated with drug response. The primary challenge with attempting to identify pharmacogenomic markers from clinical studies is that they require a homogeneous population of patients treated with the same dosage regimen and minimal confounding variables. Therefore, the development of cell-based models for pharmacogenomic marker identification has utility for the field since performing these types of studies in humans is difficult and costly. This review intends to provide a current report on the status of genomic studies in oncology, the methods for discovery, and implications for patient care. We present a perspective and summary of the challenges and opportunities in translating heritable genomic discoveries to patients.
Insights
Pharmacogenomics research uses genome-wide association studies (GWAS) to understand how genes affect drug response in cancer. Cell-based models offer a practical approach to identify these genetic markers for improved patient care.
Area of Science:
- Pharmacogenomics
- Genetics
- Oncology
Background:
- Drug response and toxicity are complex traits influenced by multiple genes.
- Pharmacogenomics investigates the genetic basis of patient response to drugs, evolving from single genes to genome-wide approaches.
- Genome-wide association studies (GWAS) in oncology offer opportunities to assess heritable factors in drug response.
Purpose of the Study:
- To review the current status of genomic studies in oncology.
- To discuss methods for discovering pharmacogenomic markers.
- To explore the implications of these discoveries for patient care.
Main Methods:
- Utilizing preclinical cell-based models for pharmacogenomic marker identification.
- Conducting clinical genome-wide association studies (GWAS) in oncology.
- Analyzing heritable genomic factors associated with drug response.
Main Results:
- Genome-wide studies provide comprehensive and unbiased assessment of heritable factors in drug response.
- Cell-based models are valuable due to the difficulty and cost of human clinical studies.
- Challenges exist in translating genomic discoveries into clinical practice.
Conclusions:
- Pharmacogenomic discoveries hold significant potential for personalizing cancer treatment.
- Cell-based models are crucial for overcoming limitations in human pharmacogenomic studies.
- Translating genomic findings into patient care requires addressing existing challenges.
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