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Published on: April 11, 2016
Twenty-First Century Precision Medicine in Oncology: Genomic Profiling in Patients With Cancer
Mitesh J Borad1, Patricia M LoRusso2
1Division of Hematology and Oncology, Mayo Clinic, Scottsdale, AZ; Mayo Clinic Comprehensive Cancer Center, Scottsdale, AZ; Department of Molecular Medicine, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
Abstract:
The advent of next-generation sequencing has accelerated the implementation of genomic profiling in the care and management of patients with cancer. Initial efforts have focused on target identification in patients with advanced cancer. Prognostication, resistance detection, disease monitoring, and early detection efforts are also underway. This review highlights some of the challenges in this evolving space. This includes choosing between gene-panel and comprehensive approaches, DNA and transcriptome data integration, reduction of false-positive variants, addressing tumor heterogeneity, establishment of workflows to address unsolicited findings, and data sharing and privacy concerns.
Insights
Next-generation sequencing advances cancer care through genomic profiling. Challenges remain in data integration, variant accuracy, tumor heterogeneity, and data privacy for effective clinical application.
Area of Science:
- Oncology
- Genomics
- Bioinformatics
Background:
- Next-generation sequencing (NGS) is revolutionizing cancer care by enabling genomic profiling.
- Current applications focus on target identification in advanced cancers, with ongoing research in prognostication, resistance detection, and early detection.
Purpose of the Study:
- To review the challenges and considerations in implementing genomic profiling in clinical cancer management.
- To highlight key areas requiring attention for the effective and ethical use of genomic data in oncology.
Main Methods:
- This is a review article, synthesizing current knowledge and challenges in the field.
- It discusses various aspects of genomic profiling implementation, including technological choices and data handling.
Main Results:
- Genomic profiling offers significant potential but faces hurdles in clinical integration.
- Key challenges include selecting appropriate sequencing approaches (gene panels vs. comprehensive), integrating diverse data types (DNA and transcriptome), ensuring variant accuracy, managing tumor heterogeneity, handling incidental findings, and addressing data privacy.
Conclusions:
- Addressing these challenges is crucial for maximizing the benefits of genomic profiling in cancer care.
- Standardized workflows and collaborative data sharing are essential for advancing the field.
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