Curated Papers > In recent years, high-impact research on "CRISPR gene editing" (IF≥30, last 5 years) has emerged.

Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance.

Literature Information

DOI	10.3322/caac.21825
PMID	38174605
Journal	CA: a cancer journal for clinicians
Impact Factor	232.4
JCR Quartile	Q1
Publication Year	2024
Times Cited	20
Keywords	cancer genomics, education, germline, molecular profiling, precision oncology
Literature Type	Journal Article, Review
ISSN	0007-9235
Pages	264-285
Issue	74(3)
Authors	Raffaella Casolino, Philip A Beer, Debyani Chakravarty, Melissa B Davis, Umberto Malapelle, Luca Mazzarella, Nicola Normanno, Chantal Pauli, Vivek Subbiah, Clare Turnbull, C Benedikt Westphalen, Andrew V Biankin

TL;DR

This study highlights the significant advancements in genomic testing for cancer over the past decade, which have identified driver mutations that can inform targeted therapies and enhance personalized cancer care. Despite their potential to improve patient outcomes, the underutilization of these tests in routine oncology is attributed to a lack of understanding and practical guidelines for interpretation, prompting the authors to propose guidance to facilitate the clinical application of genomic information.

Search for more papers on MaltSci.com

cancer genomics · education · germline · molecular profiling · precision oncology

Abstract

The last decade has seen rapid progress in the use of genomic tests, including gene panels, whole-exome sequencing, and whole-genome sequencing, in research and clinical cancer care. These advances have created expansive opportunities to characterize the molecular attributes of cancer, revealing a subset of cancer-associated aberrations called driver mutations. The identification of these driver mutations can unearth vulnerabilities of cancer cells to targeted therapeutics, which has led to the development and approval of novel diagnostics and personalized interventions in various malignancies. The applications of this modern approach, often referred to as precision oncology or precision cancer medicine, are already becoming a staple in cancer care and will expand exponentially over the coming years. Although genomic tests can lead to better outcomes by informing cancer risk, prognosis, and therapeutic selection, they remain underutilized in routine cancer care. A contributing factor is a lack of understanding of their clinical utility and the difficulty of results interpretation by the broad oncology community. Practical guidelines on how to interpret and integrate genomic information in the clinical setting, addressed to clinicians without expertise in cancer genomics, are currently limited. Building upon the genomic foundations of cancer and the concept of precision oncology, the authors have developed practical guidance to aid the interpretation of genomic test results that help inform clinical decision making for patients with cancer. They also discuss the challenges that prevent the wider implementation of precision oncology.

MaltSci.com AI Research Service

Intelligent ReadingAnswer any question about the paper and explain complex charts and formulas

Locate StatementsFind traces of a specific claim within the paper

Add to KBasePerform data extraction, report drafting, and advanced knowledge mining

Primary Questions Addressed

1. What specific challenges do clinicians face when interpreting genomic test results in cancer care?
2. How can healthcare systems improve the integration of genomic testing into routine cancer treatment protocols?
3. What role do patient demographics play in the effectiveness of precision oncology approaches?
4. In what ways can advancements in genomic technology enhance the identification of driver mutations in diverse cancer types?
5. What educational resources are available for oncologists to better understand the clinical utility of genomic tests?

Key Findings

Research Background and Objectives

The rapid advancement in genomic testing technologies over the last decade has transformed cancer research and clinical care. This study aims to explore the clinical utility of genomic tests, including gene panels and sequencing methods, and to provide practical guidance for interpreting these tests to enhance decision-making in cancer treatment.

Main Methods/Materials/Experimental Design

The authors developed a framework for interpreting genomic test results, focusing on the identification of driver mutations and their implications for targeted therapies. The methodology includes the following key components:

Key Results and Findings

1. Driver Mutations: The identification of driver mutations enables the discovery of specific vulnerabilities in cancer cells, which can be targeted by novel therapeutics.
2. Clinical Outcomes: Genomic tests have the potential to improve patient outcomes by providing insights into cancer risk, prognosis, and treatment options.
3. Underutilization: Despite their benefits, genomic tests are not widely used in routine clinical practice due to challenges in understanding their clinical utility and interpreting results.

Main Conclusions/Significance/Innovativeness

The study highlights the importance of genomic tests in precision oncology, emphasizing the need for practical guidelines to assist clinicians without specialized knowledge in cancer genomics. By improving the understanding and interpretation of genomic information, the authors aim to facilitate the integration of precision oncology into everyday cancer care, ultimately enhancing patient outcomes.

Research Limitations and Future Directions

1. Limitations:

   • Lack of comprehensive guidelines for clinicians.
   • Variability in the interpretation of genomic data across different oncology practices.
   • Limited accessibility and resources for implementing genomic testing in all clinical settings.

2. Future Directions:

   • Development of standardized guidelines for genomic test interpretation.
   • Educational initiatives to improve oncologists' understanding of genomic tests.
   • Expansion of research into the clinical applications of precision oncology to include more diverse cancer types and populations.

Summary Table

Section	Summary
Research Background	Focus on the advancements in genomic testing and its role in precision oncology.
Main Methods	Development of a framework for interpreting genomic test results.
Key Results	Identification of driver mutations and their implications for targeted therapies.
Main Conclusions	Need for practical guidelines to aid clinicians in using genomic information effectively.
Research Limitations	Underutilization of genomic tests due to interpretation challenges and limited resources.
Future Directions	Emphasis on educational initiatives and the development of standardized guidelines.

Literatures Citing This Work

1. Genetics and beyond: Precision Medicine Real-World Data for Patients with Cervical, Vaginal or Vulvar Cancer in a Tertiary Cancer Center. - Fabian B T Kraus;Elena Sultova;Kathrin Heinrich;Andreas Jung;C Benedikt Westphalen;Christina V Tauber;Jörg Kumbrink;Martina Rudelius;Frederick Klauschen;Philipp A Greif;Alexander König;Anca Chelariu-Raicu;Bastian Czogalla;Alexander Burges;Sven Mahner;Rachel Wuerstlein;Fabian Trillsch - International journal of molecular sciences (2024)
2. Liquid and Tissue Biopsies for Lung Cancer: Algorithms and Perspectives. - Paul Hofman - Cancers (2024)
3. Prospective study of the real impact of fusion centered genomic assays in patient management in a national collaborative group: the GETHI-XX-16 study. - Paloma Navarro;Carmen Beato;Juan Francisco Rodriguez-Moreno;Sergio Ruiz-Llorente;Xabier Mielgo;Estela Pineda;Miguel Navarro;Gema Bruixola;Tatiana P Grazioso;Antonio Viudez;Jose Fuster;Esther Nogueron;Maria Dolores Mediano;Carmen Balaña;Carlos Mendez;Rosa María Rodriguez;Sonia Del Barco Berron;Beatriz Gongora;Alberto Carmona-Bayonas;Jesus Garcia-Donas - Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico (2025)
4. Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment. - Antonia A Gazola;William Lautert-Dutra;Leticia Frohlich Archangelo;Rodolfo B Dos Reis;Jeremy A Squire - Molecular cytogenetics (2024)
5. Genomic testing for RET in the clinic: UK and global perspective. - Louise Izatt - Endocrine-related cancer (2025)
6. Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling. - Manami Matsukawa;Chikako Tomozawa;Yoshiaki Nakamura;Takao Fujisawa;Kaori Kimura;Yumie Hiraoka;Riu Yamashita;Shinji Kosugi;Akihiro Sakurai;Issei Imoto;Masakazu Nishigaki;Makoto Hirata;Takeshi Kuwata;Takayuki Yoshino - International journal of clinical oncology (2025)
7. Efficacy and Toxicity of Pemigatinib in Advanced Cholangiocarcinoma Harboring FGFR Fusions or Rearrangements: A Systematic Review and Meta-analysis. - Erman Akkus;Hatime Arzu Yasar;Lorenza Rimassa;Angela Lamarca - Targeted oncology (2025)
8. Optimizing a Patient-Centered Report of Somatic and Germline Genetic Test Results. - Akila Anandarajah;Hank Dart;Bailey Martin-Giacalone;Melinda Bacchini;Bettina F Drake;Graham A Colditz;Ryan C Fields;Li Ding;Erin Linnenbringer - JCO precision oncology (2025)
9. Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference. - Toby R Manders;Christopher A Tan;Yuya Kobayashi;Alexander Wahl;Carlos Araya;Alexandre Colavin;Flavia M Facio;Hillery Metz;Jason Reuter;Laure Frésard;Samskruthi R Padigepati;David A Stafford;Robert L Nussbaum;Keith Nykamp - Human genetics (2025)
10. Impact of Tyrosine Kinase Inhibitors on the Expression Pattern of Epigenetic Regulators. - Klaudia Tóth;Zsuzsanna Gaál - Cancers (2025)

... (10 more literatures)

---

© 2025 MaltSci - We reshape scientific research with AI technology