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

Casolino, R. et al. (2024) Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance. CA: A Cancer Journal for Clinicians, (doi: 10.3322/caac.21825) (PMID:38174605) (Early Online Publication)

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.

• Item Type: Articles
• Keywords: cancer genomics, molecular profiling, precision oncology, somatic, education, germline.
• Status: Early Online Publication
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Biankin, Professor Andrew and Casolino, Dr Raffaella
• 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., and Biankin, A. V.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: CA: A Cancer Journal for Clinicians
• Publisher: Wiley Periodicals LLC on behalf of American Cancer Society
• ISSN: 0007-9235
• ISSN (Online): 1542-4863
• Published Online: 04 January 2024
• Copyright Holders: Copyright © 2024 The Author(s)
• First Published: First published in CA: A Cancer Journal for Clinicians 2024
• Publisher Policy: Reproduced under a creative commons licence