The Efforts to Prevent Cancer Genetic Testing are Coming to an End

Abstract

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.