Emotional and Behavioral Responses to Genetic Testing for Susceptibility to Cancer

Drs. Lerman and Croyle provide a quite thorough review of an area in need of continuing research-ie, patients' behavioral and emotional responses to genetic testing for cancer susceptibility. The authors present current information on what we do and don't know about the psychological characteristics of individuals likely to undergo testing, possible adverse reactions, issues specific to the genetic counseling process, family coping and adaptation, and possible ways of managing psychological sequelae of genetic testing. Admirably, the authors note that much of their discussion should be considered speculative until more empirical data specific to genetic testing is available. Given this "state of the science," I will raise some additional questions based on some of the statements made by Drs. Lerman and Croyle.

The authors very reasonably argue that the psychological characteristics of women at increased risk of cancer, as well as individuals at high risk for Huntington's disease who opt for genetic testing, are relevant to the characteristics of patients who may elect to undergo cancer genetic testing. Anxiety may be a significant problem among women who opt for cancer genetic testing based upon the presence of psychological symptoms; the severity of these symptoms, however, may pose less of a significant problem [1], and may not be at a level sufficient to warrant the label of "traumatic stress symptoms."

In addition, the authors contend that relatives of ovarian cancer patients who are most interested in BRCA1 testing were much more anxious and depressed than patients with Huntington's disease who came forward for testing. Determining whether ovarian cancer patients who actually come forward for testing are more similar to tested Huntington's disease patients in terms of their level of distress remains one of the unresearched issues, as noted in the authors' opening comment.

The authors concluding point--that psychological screening and psychological services should be incorporated into genetic testing services is less debatable. However, the exact nature of these screening and clinical services is open to investigation. Providers' use of psychological screening data to help make decisions about whether or not to recommend testing for patients who report high distress is a very complex issue.

Drs. Lerman and Croyle do an excellent job of pointing out the variety of issues related to health-care provider-patient communication. Needed emphasis is placed on the use of detailed follow-up letters and the benefits of a team approach including genetic counselors.

An Empirical Vacuum

The section on anticipated emotional and behavioral responses to disclosure of genetic status has indeed occurred, as the authors point out, in an empirical vacuum. To fill this void, the authors draw upon the literature on the psychological aspects of a cancer diagnosis and the studies of predictive testing for Huntington's disease, noting that caution is necessary when generalizing these findings to genetic testing for cancer susceptibility.

Of particular interest is the possibility that adverse psychological effects may be more likely in persons who have high predisclosure distress levels [2]. This is consistent with our own finding of a positive relationship between cancer patients' worry postdiagnosis and spousal ratings of the patients' tendency to be a "worrier" in general [3].

Again, given the speculative nature of the discussion and the relatively optimistic data on coping with Huntington's disease testing, we need to be cautious regarding the level of emotional distress anticipated among women who test positive. While the authors note that "80% of relatives of ovarian cancer patients say that they would be depressed if they had a positive BRCA1 result," this may overestimate the number of women who report ongoing depressive symptoms beyond short-term feelings of disappointment, discouragement, and worry.

In addition, although 30% of women at increased risk may experience increased distress [4], it is unclear whether this can be labeled "functional impairment," or whether it is directly attributable to concerns about personal risk status vs concerns for an affected relative. Moreover, while increased distress has been shown to lead to avoidance of certain breast cancer screening practices in some studies [5], the impact of emotional distress on adherence to different breast cancer screening modalities is less clear in other investigations [1,4]. Finally, women at increased risk who opt for genetic testing may be quite different from the larger group of all women at increased risk. The former may be quite vigilant about screening practices.

Family Issues Very Complex

The authors make the excellent point that "clinicians who lack experience in genetic testing can underestimate the psychosocial complexities of providing this type of information to patients." Family issues promise to be a very complicated consideration in genetic testing. Drs. Lerman and Croyle stress the need to discuss family relationship issues and the impact of genetic information on the family before and after the communication of test results. Not unlike the issue of how to incorporate screening and clinical psychological services into genetic testing services, the details of how best to organize and conduct family discussions remains a significant question mark.

The authors make an interesting point regarding the spouse as a "forgotten person" in genetic counseling. While the strain of the test process may exacerbate problems in marital relationships, the cancer survivorship literature may provide some room for optimism; in one study, the majority of cancer survivors reported that their marital relationship was satisfactory or better after the diagnosis than prediagnosis [6]. This may also be true for family relationships. We should not assume that increased familial strife is necessarily a sequela of individual genetic testing decisions. More generally, it may be helpful to consider survivor data as it relates to spheres of functioning outside the marital relationship, such as the psychological functioning of individuals with nonsymptomatic cancers and their quality-of-life levels over time.

Predisclosure Education and Informed Consent

Finally, the authors address the issue of providing predisclosure education and informed consent. Specific elements to be addressed are quite extensive, including (in addition to those listed by the authors) treatment of breast cancer and the strengths (vs limitations) of options for prevention and surveillance. The authors' recommendation to disclose genetic information at a second visit is strongly seconded by this reviewer. More debatable is their contention that providers should play a more active role in the genetic testing context. If "active" is defined as more directive specific to the decision to have genetic testing, this awaits further empirical evaluation. If the authors refer specifically to following a course of increased surveillance after a positive test result, that is much less arguable.

Overall, Drs. Lerman and Croyle do an excellent job of providing an overview of critical areas relevant to genetic testing for cancer susceptibility. The decision to undergo genetic testing and the decision of what follow-up care to provide for women with a strong family history who opt for or against testing are difficult ones. We need to carefully learn more from patients undergoing this difficult decision-making and adjustment process. The authors accurately note that these decisions constitute a significant challenge to cancer-care providers and demand further empirical scrutiny.