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Curr Probl Cancer

Curr Probl Cancer ] (2014) ]]]–]]]

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journal homepage: www.elsevier.com/locate/cpcancer

Introduction: Molecular genomics of cancer:Linking diagnostic testing and clinical therapy

Kevin E. Fisher, MD, PhD, Stewart G. Neill, MD,Geoffrey H. Smith, MD, Rathi N. Pillai, MD,Ragini R. Kudchadkar, MD, Linsheng Zhang, MD, PhD,Michael R. Rossi, PhD

For many physicians, genetic testing in any form falls within the category of esoteric testing.The concept that gene mutations or copy number abnormalities are only understood by a limitednumber of specialists, and that the data may only be relevant within the context of rare disease,is prevalent throughout many medical practices. In light of the most recent data from both thebench and the bedside,1-4 this mindset is woefully antiquated in oncology. Moving forward, aclear understanding of the utility of multi-gene molecular testing in informing the diagnosis andtreatment of cancer patients within specific disease subtypes is essential for improvingoutcomes.

Due to the vast breadth of medical education, physician exposure to advanced moleculartechnologies and applications is often limited. Organizations like the National Coalition forHealth Care Professional Education in Genetics and other groups tasked with the goal ofeducating health care professionals have been poorly funded and unable to expand content tothe understanding of somatic cancer mutations. This review has been written with the intent ofserving as a general primer for clinical oncologists and pathologists alike, who are entrustedwith providing the highest standard of care to their patients.

This review highlights key advances in genomic medicine in solid tumors, central nervoussystem neoplasia, and hematologic malignancies with a particular emphasis on diagnostictesting and clinical reporting. Nucleic acid is the input for all genomic testing, thus it is theopinion of these authors that practical implementation of genomic medicine requiresinstitutional revisions to traditional approaches of pathologic diagnoses and specimen handling.Particular emphasis is required to integrate both specimen and molecular data, and thewillingness to interpret complex data sets in their entirety, rather than as a series of individualtests, data sets, or abnormalities.

Advances in genetics and genomics technologies have demonstrated a lag of nearly a decadefrom the time of discovery of a new technological advancement such as fluorescence in situhybridization, microarray, or next generation sequencing to widespread clinical use. It isuncertain what technologies will surpass next generation sequencing, but for now, it is clear that

x.doi.org/10.1016/j.currproblcancer.2014.08.00372/& 2014 Elsevier Inc. All rights reserved.

K.E. Fisher et al. / Curr Probl Cancer ] (2014) ]]]–]]]2

the future of precision medicine is dependent on the standardization of molecular analyses andreporting into a seamless clinical narrative from initial diagnosis to final follow-up for thecomprehensive management of each patient.5

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