Search citation statements
Paper Sections
Citation Types
Year Published
Publication Types
Relationship
Authors
Journals
When cancer genetic testing was introduced in the 1990s, a great deal was unknown about cancer risk assessment and risk management. Consequently, genetics professionals supported strict guidelines to protect patients from physical, psychological, and financial harm. The ensuing decades witnessed significant advancements in knowledge and practice, but the guidelines remained entrenched, creating the impression that cancer genetic testing is difficult, is dangerous for the patients, and should not be done by anyone but trained genetics professionals. The result has been that the vast majority of patients with cancer-causing pathogenic variants remain unidentified and continue to develop cancers that could have been prevented or found earlier. We can get a sense of the scale of this problem by considering a few of the major cancers for which cancer genetic testing is available. Of the 600,000 breast, ovarian, colorectal, and endometrial cancers diagnosed each year, approximately 60,000 (10%) are likely caused by an identifiable pathogenic variant in a cancer predisposition gene. 1 The vast majority of these patients are never tested, which denies them the opportunity for diagnosis at an earlier stage or prevention of their cancer altogether. During the past 10 years, approximately 600,000 patients, mostly women, have been poorly served.This article refers to: Shim V, Karlea A, Brenman LM, et al. Mainstream germline genetic testing with expanded eligibility for early breast cancer patients in a large integrated health system.
When cancer genetic testing was introduced in the 1990s, a great deal was unknown about cancer risk assessment and risk management. Consequently, genetics professionals supported strict guidelines to protect patients from physical, psychological, and financial harm. The ensuing decades witnessed significant advancements in knowledge and practice, but the guidelines remained entrenched, creating the impression that cancer genetic testing is difficult, is dangerous for the patients, and should not be done by anyone but trained genetics professionals. The result has been that the vast majority of patients with cancer-causing pathogenic variants remain unidentified and continue to develop cancers that could have been prevented or found earlier. We can get a sense of the scale of this problem by considering a few of the major cancers for which cancer genetic testing is available. Of the 600,000 breast, ovarian, colorectal, and endometrial cancers diagnosed each year, approximately 60,000 (10%) are likely caused by an identifiable pathogenic variant in a cancer predisposition gene. 1 The vast majority of these patients are never tested, which denies them the opportunity for diagnosis at an earlier stage or prevention of their cancer altogether. During the past 10 years, approximately 600,000 patients, mostly women, have been poorly served.This article refers to: Shim V, Karlea A, Brenman LM, et al. Mainstream germline genetic testing with expanded eligibility for early breast cancer patients in a large integrated health system.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2025 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.