Genetic and Genomic Testing for Cancer Susceptibility. ASCO

© 2015 by American Society of Clinical Oncology

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility

Mark E. Robson⇑, Angela R. Bradbury, Banu Arun, Susan M. Domchek, James M. Ford, Heather L. Hampel, Stephen M. Lipkin, Sapna Syngal, Dana S. Wollins and Noralane M. Lindor

Author Affiliations

Mark E. Robson, Memorial Sloan Kettering Cancer Center; Mark E. Robson and Stephen M. Lipkin, Weill Cornell Medical College, New York, NY; Angela R. Bradbury and Susan M. Domchek, Hospital of the University of Pennsylvania, Philadelphia, PA; Banu Arun, MD Anderson Cancer Center, Houston, TX; James M. Ford, Stanford University Medical Center, Stanford, CA; Heather L. Hampel, Ohio State University Comprehensive Cancer Center, Columbus, OH; Sapna Syngal, Dana-Farber Cancer Institute, Boston, MA; Dana S. Wollins, American Society of Clinical Oncology, Alexandria, VA; and Noralane M. Lindor, Mayo Clinic, Scottsdale, AZ.

Corresponding author: Mark E. Robson, MD, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10065; e-mail: robsonm@mskcc.org.


Abstract

The American Society of Clinical Oncology (ASCO) has long affirmed that the recognition and management of individuals with an inherited susceptibility to cancer are core elements of oncology care.

ASCO released its first statement on genetic testing in 1996 and updated that statement in 2003 and 2010 in response to developments in the field. In 2014, the Cancer Prevention and Ethics Committees of ASCO commissioned another update to reflect the impact of advances in this area on oncology practice.

In particular, there was an interest in addressing the opportunities and challenges arising from the application of massively parallel sequencing—also known as next-generation sequencing—to cancer susceptibility testing. This technology introduces a new level of complexity into the practice of cancer risk assessment and management, requiring renewed effort on the part of ASCO to ensure that those providing care to patients with cancer receive the necessary education to use this new technology in the most effective, beneficial manner.

The purpose of this statement is to explore the challenges of new and emerging technologies in cancer genetics and provide recommendations to ensure their optimal deployment in oncology practice.

Specifically, the statement makes recommendations in the following areas: germline implications of somatic mutation profiling, multigene panel testing for cancer susceptibility, quality assurance in genetic testing, education of oncology professionals, and access to cancer genetic services.

INTRODUCTION

The American Society of Clinical Oncology (ASCO) is the leading medical professional oncology society committed to conquering cancer through research, education, prevention, and delivery of high-quality patient care.

ASCO has long affirmed that the recognition and management of individuals with an inherited susceptibility to cancer are core elements of oncology care. ASCO released its first statement on genetic testing in 1996 1 and updated that statement in 2003 and 2010 in response to developments in the field of clinical cancer genetics.2,3

In 2014, the Cancer Prevention and Ethics Committees of ASCO commissioned another update to reflect the impact of advances in this area on oncology practice. In particular, ASCO wished to address the opportunities and challenges arising from the application of massively parallel sequencing—also known as next-generation sequencing (NGS)—to cancer susceptibility testing.

NGS is a powerful technology that permits the characterization of large amounts of DNA sequence much quicker and at lower cost than traditional Sanger sequencing.4–6 The ability to affordably sequence panels of genes, exomes, and even whole genomes presents an enormous opportunity, and investigators in all fields of medicine are exploring how to best use this new tool to improve patient outcomes.7

In oncology, NGS makes it feasible to catalog the DNA sequence variations within a patient's cancer (ie, somatic mutation profiling), with the goal of defining therapeutic targets and thereby improving patient outcomes through the application of specific therapies directed at those targets.

NGS can facilitate the identification of inherited susceptibility to cancer (and other diseases) either in the course of somatic mutation profiling or through direct germline multigene (multiplex) panel testing.

These applications of NGS challenge existing paradigms of counseling and testing for inherited susceptibility and raise important questions regarding the optimal approach to incidental germline findings, the appropriate use of multigene panel testing, and the most effective way to ensure the quality of NGS when used in clinical oncology.8,9

The novel technology also introduces a new level of complexity into the practice of cancer risk assessment and management, requiring renewed effort on the part of ASCO to ensure that those providing care to patients with cancer receive the necessary education to use this new technology in the most effective, beneficial manner.

The purpose of this updated statement is to explore these challenges and provide recommendations to ensure the optimal deployment of these technologies in oncology practice.