Introduction
As genetic testing for cancer is integrated into the routine clinical management of cancer patients and their high-risk relatives, oncologists and nurses will undoubtedly be called upon to provide genetic information. Evidence for this comes from recent studies documenting a very high level of interest in genetic testing among cancer patients, their relatives, and members of the general population [1-4]. Preliminary data suggest that among high-risk family members, these self-reported intentions usually translate into actual utilization of genetic testing [5]. To meet this demand for genetic information, cancer-care providers will be challenged to expand their current repertoire of skills and services.
An important concern surrounding the clinical application of genetic technology is the psychological impact of communicating test results [6,7]. How should providers counsel their patients about cancer risks and the meaning of genetic test results? Although similar concerns have been noted in the context of predictive genetic testing for other late-onset diseases, such as Huntington's disease, testing for cancer susceptibility raises unprecedented psychological issues.
One example is the issue of uncertainty. The need to reduce uncertainty has been commonly cited by prospective participants in genetic testing programs as a reason for being tested [8,9]. In the cancer domain, however, both carriers and noncarriers of mutations face significant ambiguity and uncertainty about whether and when cancer will develop.
A second issue concerns the appropriateness of the traditional nondirective stance of genetic counseling [10]. Cancer, unlike Huntington's disease, is potentially preventable and can be treated effectively if detected early. Therefore, a comprehensive cancer-risk counseling program must not only educate patients to facilitate informed decisions but also promote long-term changes in risk-related health behaviors and surveillance patterns. In our view, this goal cannot and will not be achieved without addressing the beliefs, emotions, and relationships that influence these behaviors.
The purpose of this paper is to address some of the emerging psychological issues and challenges posed by genetic testing for cancer risk. First, we present a description of the psychological characteristics of individuals who are likely to come forward for such testing. Next, we describe the range of possible adverse emotional reactions, with particular attention to the possible impact of distress on prevention and surveillance behaviors. In addition, we address issues surrounding the genetic counseling process and family coping and adaptation. Finally, suggestions for managing the psychological sequelae of genetic testing are offered.
Psychological Characteristics of Persons Likely to Request Genetic Testing for Cancer Risk
With the cloning of the BRCA1 gene for hereditary breast-ovarian cancer (HBOC) [11] and the hMLH1 and hMSH2 genes for hereditary nonpolyposis colorectal cancer (HNPCC) [12-14], the availability of direct mutation testing is imminent. The funding of grants to establish pilot predictive testing programs for cancer has made genetic testing available on an experimental basis [15]. Although recent consensus statements do not advocate population screening [16], relatives of cancer patients and persons at increased risk have been targeted for recruitment into pilot predictive testing programs.
Previous studies of individuals at increased risk for cancer can inform us about the psychological profile of this target population. Heightened anxiety is cited most widely as a feature of women at increased risk for breast cancer. One study of women who, on their own initiative, participated in a breast cancer surveillance program found that over one-fourth of them exhibited psychological distress severe enough to warrant clinical intervention [17]. A recent study of first-degree female relatives of breast cancer patients [18] documented a wide range of self-reported traumatic stress symptoms, ranging from intrusive thoughts (53%) to sleep disturbances (22%). Stress-related impairment in the ability to perform routine daily activities was reported by 30% of women.
Women with a family history of ovarian cancer may be especially vulnerable to psychological distress. The protracted morbidity and high mortality associated with this disease generates anguish and apprehension in unaffected female relatives of patients [19]. High-risk women who have information-seeking coping styles may be especially prone to adverse emotional reactions [2,20]. Their efforts to attenuate distress by consuming relevant information only seem to heighten their sense of vulnerability and anxiety [19].
The subset of high-risk individuals who opt for genetic testing for cancer susceptibility may be the most psychologically vulnerable. Among relatives of ovarian cancer patients, those who were most interested in BRCA1 testing also were the most anxious and distressed [2]. These findings contrast with studies of predictive testing for Huntington's disease, in which persons who came forward for testing were the most well-adjusted [21]. In other words, self-selection for Huntington's disease testing produced a very high-functioning sample of participants.
This discrepancy may reflect fundamental differences in the natural history of Huntington's disease and cancer. Unlike Huntington's disease, cancer is potentially preventable and can be treated effectively if detected early. Empirical data from actual pilot testing programs is necessary to elucidate more fully the characteristics of high-risk individuals who present for genetic testing for cancer risk. Nevertheless, the data reported to date indicate clearly that clinicians who offer genetic testing should incorporate psychological screening and services into their programs.
Patient and Provider Issues Relating to the Genetic Counseling Process
Before implementing a genetic testing program, a clinician must consider the time and resources necessary to provide a minimal standard of care. In the case of counseling, the amount of time can be substantial. In a BRCA1 testing program at the University of Utah, for example, initial visits with the genetic counselor typically last 2 hours or more. One reason is that laypeople have little or no prior knowledge of genetics. In addition, there are a number of relatively unique aspects of inherited cancer that must be explained (eg, incomplete penetrance, etiologic heterogeneity). Finally, it is important that clinicians encourage patients' questions and provide adequate opportunities for them to express their concerns.
Given the complexity of genetic information, the communication process must be carefully considered. Several studies of patient-provider communication have shown that patients immediately forget or misunderstand much of what they are told [22]. Physicians tend to overestimate their patients' knowledge and adherence to recommended health practices [23,24]. In addition, they underestimate both the amount of time they spend informing patients and the desire of patients for more information [25]. Deficiencies in patient-provider communication may increase the likelihood of psychological adjustment problems in patients at risk for cancer [26].
Certified genetic counselors can play a unique, critical role in providing effective patient education. Because their training and experience focus precisely on the task at hand, they are often in a better position to explain inheritance and the meaning of test results than are physicians.
A common practice among genetic counselors that may be unfamiliar to oncologists is the use of detailed follow-up letters that reiterate information communicated during a counseling session. We endorse this strategy strongly, especially since effective patient education materials for cancer genetic testing have yet to be developed. When a team approach is used, oncologists' time may be best spent on specific discussions of the medical options that may be faced by mutation carriers. The genetic counselor or nurse oncologist can then serve as an ongoing liaison between the physician and patient as additional questions arise.
A 70-year-old man with a history of localized prostate cancer treated with whole-pelvis radiation therapy with a boost to the prostate, in conjunction with androgen deprivation therapy 7 years prior, presented with lower back pain. A bone scan revealed an area of activity in the sacrum. What is the most likely diagnosis?
