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Review
. 2020 Jul;19(3):223-239.
doi: 10.1007/s10689-020-00170-9.

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis

Brandie Heald  1 , Heather Hampel  2 , James Church  3 , Beth Dudley  4 , Michael J Hall  5 , Maureen E Mork  6 , Aparajita Singh  7 , Elena Stoffel  8 , Jessica Stoll  9 , Y Nancy You  6 , Matthew B Yurgelun  10 , Sonia S Kupfer  9 ; Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Affiliations
Review

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis

Brandie Heald et al. Fam Cancer. 2020 Jul.

Abstract

Multigene panel tests for hereditary cancer syndromes are increasingly utilized in the care of colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels raises a number of questions including which patients should undergo testing, which genes should be included on panels, and the settings in which panels should be ordered and interpreted. To address this knowledge gap, key questions regarding the major issues encountered in clinical evaluation of hereditary CRC and polyposis were designed by the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position Statement Committee and leadership. A literature search was conducted to address these questions. Recommendations were based on the best available evidence and expert opinion. This position statement addresses which genes should be included on a multigene panel for a patient with a suspected hereditary CRC or polyposis syndrome, proposes updated genetic testing criteria, discusses testing approaches for patients with mismatch repair proficient or deficient CRC, and outlines the essential elements for ordering and disclosing multigene panel test results. We acknowledge that critical gaps in access, insurance coverage, resources, and education remain barriers to high-quality, equitable care for individuals and their families at increased risk of hereditary CRC.

Keywords: Inherited colorectal cancer; Lynch syndrome; Multigene panel testing; Next-generation sequencing; Polyposis; Position statement.

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Conflict of interest statement

Conflict of interest Dr. Hall has clinical trial support from Merck and Astra Zeneca and research collaborations with Caris, Foundation Medicine, Myriad Genetics Laboratories Inc., Ambry Genetics, and Invitae. Ms. Hampel has performed collaborative research with Ambry Genetics, Invitae, and Myriad Genetic Laboratories Inc., and she is on the scientific advisory boards of Invitae and Genome Medical. She has stock in Genome Medical as an advisory board member. Ms. Heald is on the Speakers Bureau for Myriad Genetics Laboratories Inc. and an advisory board for Invitae. Dr. Yurgelun previously received research funding from Myriad Genetics Laboratories Inc. Ms. Stoll has performed collaborative research with Myriad Genetics Laboratory Inc. and is on an advisory board for Invitae. Dr. Kupfer has performed collaborative research with Myriad Genetics Laboratories Inc. The remaining authors have no potential conflicts of interest to declare.

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