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Cancer Survivorship Care: An Opportunity to Revisit Cancer Genetics.

Genetic test results can substantially impact the care of cancer survivors even long after their initial oncologic treatments, and can also lead to testing and initiation of clinical care for their relatives. There are two scenarios in which it is particularly important to assess genetic risk and consider genetic testing during survivorship: (1) in cancer survivors whomeet criteria for genetic testing but have not yet had this performed, and (2) in cancer survivors who had genetic counseling and testing previously yet should now consider additional testing because of a newcancer diagnosis (personal or family) or updated testing options (e.g., availability of expanded molecular analyses). To illustrate the importance of addressing genetic risk in survivors, consider the following patient case. J.S. is a 53-year-old woman who had tested negative for BRCA1/2mutations in the late 1990s after having been diagnosed with breast cancer at age 29. Last year, her nieces inquired about her testing history and results because they were concerned about their own risks. When J.S. learned that more extensive testing had become available (including testing for BRCA1/2 gene rearrangements), she opted for additional testing and was found to carry a deleterious BRCA1 mutation. Based on this new information, she underwent bilateral salpingo-oophorectomy, at which time she was diagnosed with stage 2 ovarian cancer. In addition to facilitating J.S.’s care, the knowledge of her BRCA1mutation allowed her family members to make informed decisions about their own testing and treatment. Thus, genetic testing can play a critical role in optimizing a patient’s survivorship care and in mitigating future risks for her and her family. The evolution of testing, as illustrated in this case, is one of several reasons we discuss for revisiting genetics in the care of cancer survivors. In this article, we describe barriers to genetic testing, which must be considered to address the needs of cancer survivors who meet testing criteria but have not yet been evaluated. Testing for pathogenic mutations in susceptibility genes known to be associated with familial cancer syndromes has been recommended for many cancer patients and their family members for two decades, but not everyone who receives this recommendation is tested. Genetic testing may be appropriate for some people based on concerning family histories or their own characteristics (e.g., young age at diagnosis with cancer, Ashkenazi Jewish heritage, personal diagnosis with a particular cancer site or histology, or a syndromic presentation). However, many individuals who meet criteria for BRCA testing, Lynch syndrome testing, and/or testing for mutations in other cancer-predisposing genes have not been tested for various reasons, including insurability concerns (which are now less relevant thanks to the 2009 Genetic Information Nondiscrimination Act, or GINA, which protects against genetic discrimination in insurance or employment), costs, inadequate access to subsequent care, and emotional distress. Jagsi et al recently found among survivors of early-stage breast cancer that racial/ethnic minorities were less likely to have discussed genetic testing with a health professional even when they had a strong desire for testing, and that those who had received genetic testing were younger, less likely to be black, and more likely to have a family cancer history. Similarly, Levy et al reported that young survivors of early-stage breast cancer (diagnosed at age 40 years or younger) were less likely to have had genetic testing if they were black or Latina rather than white (even when Jewish women were excluded). Those enrolled in a health maintenance organization were also less likely to have been tested than those with point-ofservice insurance plans. Some patients may be too sick or distressed by their cancer and/or cancer treatment to pursue testing. Emotional barriers to genetic testing exist even in healthy populations. For example, in 2002, 76 black women at high risk for breast cancer were found to be less likely to agree to genetic testing if they were anticipating negative emotional responses to testing and were more concerned about result-based stigmatization. A decade later, a qualitative interview study of 120 Latina women at risk for BRCA mutations found that logistic concerns (e.g., health insurance coverage), emotional concerns (e.g., distress), and competing life concerns (e.g., caregiving responsibilities for children or other family members) were the biggest barriers to genetic testing. Historically, fear of loss of health insurance has been one of the greatest barriers to genetic testing. In fact, in a survey in 2000, a majority of 163 genetic counselors reported that they themselves would not have chosen to bill insurance for any genetic testing they might have needed, because of concern about potential discrimination based on the results. GINA was passed by Congress in 2008 to protect individuals from discrimination based on testing results. An interview study of 25 clinicians, 20 insurance executives, and six patient advocates identified poor coordination of tests relative to treatment decisions and reimbursement-related disincentives as the major barriers to BRCA testing. Five of the six