A framework for genomic biomarker actionability and its use in clinical decision making

The increasing scope and availability of genetic testing options for patients suffering from cancer has raised questions about how to use results of molecular diagnostics to inform patient care. For some biomarkers (e.g. BRAF mutations in melanoma), standards exist that outline treatments for indivi...

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Detalles Bibliográficos
Autores: Vidwans, Smruti J., Turski, Michelle L., Janku, Filip, Garrido-Laguna, Ignacio, Munoz, Javier, Schwab, Richard, Subbiah, Vivek, Rodón Ahnert, Jordi, Kurzrock, Razelle
Tipo de recurso: artículo
Fecha de publicación:2014
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:185238
Acceso en línea:https://ddd.uab.cat/record/185238
https://dx.doi.org/urn:doi:10.18632/oncoscience.90
Access Level:acceso abierto
Palabra clave:Biomarker
Clinical decision making
Targeted therapies
Predictive biomarkers
Descripción
Sumario:The increasing scope and availability of genetic testing options for patients suffering from cancer has raised questions about how to use results of molecular diagnostics to inform patient care. For some biomarkers (e.g. BRAF mutations in melanoma), standards exist that outline treatments for individuals harboring aberrations in the biomarker; however for the vast majority of genomic abnormalities, few guidelines exist. Clinical decision making and the therapeutic approach for a patient with a given cancer characterized by aberrations in different genes may be aided by the use of a biomarker actionability framework that provides levels of evidence regarding whether and how a molecular abnormality can be considered a therapeutically relevant biomarker. A gene may be considered theoretically actionable if it has a basis of actionability, such that clinically available drugs can target a gene product that drives the cancer or is differentially expressed in tumor versus normal elements. Herein, we discuss a possible framework for developing guidelines for actionability, as they relate to genomically-based cancer therapeutics.