Editorial
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Oncol. Aug 24, 2024; 15(8): 975-981
Published online Aug 24, 2024. doi: 10.5306/wjco.v15.i8.975
Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer
Priyanka Kumar, David J Benjamin, Sourat Darabi, Goetz Kloecker, Arash Rezazadeh Kalebasty
Priyanka Kumar, Department of Hematology and Medical Oncology, Harbor-UCLA Medical Center, Torrance, CA 90502, United States
David J Benjamin, Department of Medical Oncology, Hoag Family Cancer Institute, Newport Beach, CA 92663, United States
Sourat Darabi, Department of Precision Medicine, Hoag Family Cancer Institute, Newport Beach, CA 92663, United States
Goetz Kloecker, Department of Hematology and Medical Oncology, University of Louisville, Louisville, KY 40202, United States
Arash Rezazadeh Kalebasty, Department of Hematology and Medical Oncology, University of California-Irvine, Orange, CA 92868, United States
Author contributions: Kumar P, Benjamin DJ, Darabi S, Kloecker G, and Rezazadeh Kalebasty A designed the research study, performed the research, analyzed the data and wrote the manuscript; all authors have read and approved the final manuscript.
Conflict-of-interest statement: Kumar P has no disclosures; Benjamin DJ has the following disclosures: Consulting or advisory role: Astellas, Eisai, and Seagen; Speakers’ bureau: Merck; Travel and accommodations: Merck; Darabi S has the following disclosures: Consulting/advisory: Oncolens, Bayer, and BostonGene; Kloecker G has the following disclosures: Speakers’ bureau/advisory: Bristol Myers Squibb, AstraZeneca, Regeneron, Sanofi, Genentech, Novartis, and EMD Serono; Rezazadeh Kalebasty A has the following disclosures: Stock and other ownership interests: ECOM medical; Consulting or advisory role: Exelixis, AstraZeneca, Bayer, Pfizer, Novartis, Genentech, Bristol Myers Squibb, EMD Serono, Immunomedics, and Gilead Sciences; Speakers' bureau: Janssen, Astellas Medivation, Pfizer, Novartis, Sanofi, Genentech/Roche, Eisai, AstraZeneca, Bristol Myers Squibb, Amgen, Exelixis, EMD Serono, Merck, Seattle Genetics/Astellas, Myovant Sciences, Gilead Sciences, and AVEO; Research funding: Genentech, Exelixis, Janssen, AstraZeneca, Bayer, Bristol Myers Squibb, Eisai, Macrogenics, Astellas Pharma, BeyondSpring Pharmaceuticals, BioClin Therapeutics, Clovis Oncology, Bavarian Nordic, Seattle Genetics, Immunomedics, Epizyme; Travel, accommodations, and expenses: Genentech, Prometheus, Astellas Medivation, Janssen, Eisai, Bayer, Pfizer, Novartis, Exelixis, and AstraZeneca.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: Https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: David J Benjamin, MD, Doctor, Department of Medical Oncology, Hoag Family Cancer Institute, 1 Hoag Drive, Building 41, Newport Beach, CA 92663, United States. david.benjamin@hoag.org
Received: March 28, 2024
Revised: July 15, 2024
Accepted: July 23, 2024
Published online: August 24, 2024
Processing time: 141 Days and 6 Hours
Abstract

Recent advancements in next generation sequencing have allowed for genetic information become more readily available in the clinical setting for those affected by cancer and by treating clinicians. Given the lack of access to geneticists, medical oncologists and other treating physicians have begun ordering and interpreting genetic tests for individuals with cancer through the process of "mainstreaming". While this process has allowed for quicker access to genetic tests, the process of "mainstreaming" has also brought several challenges including the dissemination of variants of unknown significance results, ordering of appropriate tests, and accurate interpretation of genetic results with appropriate follow-up testing and interventions. In this editorial, we seek to explore the process of informed consent of individuals before obtaining genetic testing and offer potential solutions to optimize the informed consent process including categorization of results as well as a layered consent model.

Keywords: Genetic testing; Informed consent; Genetic counseling; Next generation sequencing; Mainstreaming; Layered consent

Core Tip: Mainstreaming has allowed for improved and readily available access to next generation sequencing testing in some regions of the world by allowing oncologists to order genetic testing. Pitfalls encountered with mainstreaming include adequate patient counseling on unanticipated genetic results as well as follow-up of variants of unknown significance (VUS) which have implications for tested individuals and family members. Genetic registries following VUS may provide a formal avenue for patients to receive adequate follow-up and counseling if VUS are later identified as malignant. A “layered consent model” as well as system of categorizing genes of interest may help in preserving patient autonomy and upholding the medical ethical tenets of justice and non-maleficence.