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


Authors: Casolino, R.; Beer, P. A.; Chakravarty, D.; Davis, M. B.; Malapelle, U.; Mazzarella, L.; Normanno, N.; Pauli, C.; Subbiah, V.; Turnbull, C.; Westphalen, C. B.; Biankin, A. V.
Review Title: Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance
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. © 2024 The Authors. CA: A Cancer Journal for Clinicians published by Wiley Periodicals LLC on behalf of American Cancer Society.
Keywords: somatic mutation; genetics; mutation; review; cancer risk; cancer patient; neoplasm; neoplasms; germline; practice guideline; tumor marker; patient care; cancer center; education; cancer cell; practice guidelines as topic; genomics; clinical decision making; genetic screening; genetic testing; molecular profiling; personalized medicine; cancer genomics; somatic; procedures; cancer prognosis; humans; human; whole genome sequencing; precision medicine; whole exome sequencing; biomarkers, tumor; precision oncology; oncogenomics; malignant neoplasm; personalized cancer therapy; genetic profile; molecular fingerprinting; patient guidance
Journal Title: CA - A Cancer Journal for Clinicians
Volume: 74
Issue: 3
ISSN: 0007-9235
Publisher: Wiley-Blackwell  
Date Published: 2024-05-01
Start Page: 264
End Page: 285
Language: English
DOI: 10.3322/caac.21825
PUBMED: 38174605
PROVIDER: scopus
DOI/URL:
Notes: Review -- Source: Scopus
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