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Updated: Jun 6, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
From Sequencing to Treatment: Operational Challenges in Translating Precision Oncology Into Clinical Practice
Miguel Zugman1, Paulo V Campregher1,2, Jeffrey S Ross3,4
1Centro de Oncologia e Hematologia Família Dayan-Daycoval, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Abstract:
Precision oncology has fundamentally reshaped cancer treatment by enabling therapies to be matched to the molecular biology of individual tumors. Advances in next-generation sequencing (NGS) technologies, expanding biomarker discovery, and an increasing number of targeted therapies have made comprehensive molecular testing an integral component of modern oncology practice. Realizing the full clinical impact of these technologies requires understanding not only the biological alterations detected but also the diagnostic workflows through which genomic information is generated and interpreted. NGS-based assays differ substantially in their design, particularly in terms of sequencing breadth, depth, and the chemistry involved in library prep. These technical characteristics influence the types of genomic alterations that can be detected, the analytical sensitivity of testing, and the clinical confidence with which results can be interpreted. Preanalytic variables-including tissue adequacy, nucleic acid quality, and specimen handling-are equally critical, as they determine whether molecular testing can be successfully performed and whether the resulting data accurately reflect tumor biology. Once genomic results are available, clinicians must interpret a diverse range of molecular alterations, including single-nucleotide variants, copy number changes, structural rearrangements, and composite genomic signatures. Structured reporting practices, multidisciplinary interpretation through molecular tumor boards, and evidence-based actionability frameworks help translate these findings into clinically meaningful treatment decisions. Ultimately, maximizing the impact of precision oncology requires coordinated integration across molecular diagnostics, clinical interpretation, and health care delivery systems. By understanding each step of this pathway-from specimen acquisition to therapeutic decision making-clinicians can more effectively translate genomic insights into improved patient outcomes.
Insights
Precision oncology uses next-generation sequencing (NGS) for personalized cancer treatment. Understanding diagnostic workflows and molecular alterations is key to translating genomic insights into improved patient outcomes.
Area of Science:
- Genomic Medicine
- Cancer Biology
- Molecular Diagnostics
Background:
- Precision oncology matches cancer therapies to individual tumor molecular biology.
- Next-generation sequencing (NGS) and biomarker discovery are integral to modern cancer care.
- Comprehensive molecular testing is essential for effective precision oncology.
Purpose of the Study:
- To highlight the importance of understanding diagnostic workflows in precision oncology.
- To discuss how technical and preanalytic variables impact genomic testing.
- To explain the interpretation of genomic alterations and their translation into treatment decisions.
Main Methods:
- Review of next-generation sequencing (NGS) assay designs and their influence on detection.
- Analysis of preanalytic variables affecting molecular testing success and accuracy.
- Examination of interpretation strategies for diverse genomic alterations.
Main Results:
- NGS assay design (breadth, depth, chemistry) affects detectable alterations and sensitivity.
- Preanalytic factors like tissue quality and handling are critical for successful testing.
- Structured reporting and multidisciplinary interpretation aid clinical decision-making.
Conclusions:
- Coordinated integration of molecular diagnostics, clinical interpretation, and healthcare systems is vital for maximizing precision oncology's impact.
- Understanding the entire pathway from specimen acquisition to treatment decision-making improves patient outcomes.
- Effective translation of genomic insights requires a comprehensive approach to molecular testing and interpretation.
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