Emotional and Behavioral Responses to Genetic Testing for Susceptibility to Cancer

February 1, 1996
Michael E. Stefanek, PhD
Michael E. Stefanek, PhD

Volume 10, Issue 2

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.

Drs. Lerman and Croyle provide a quite thorough review of an areain need of continuing research-ie, patients' behavioral and emotionalresponses to genetic testing for cancer susceptibility. The authorspresent current information on what we do and don't know aboutthe psychological characteristics of individuals likely to undergotesting, possible adverse reactions, issues specific to the geneticcounseling process, family coping and adaptation, and possibleways of managing psychological sequelae of genetic testing. Admirably,the authors note that much of their discussion should be consideredspeculative until more empirical data specific to genetic testingis available. Given this "state of the science," I willraise some additional questions based on some of the statementsmade by Drs. Lerman and Croyle.

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

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

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

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

An Empirical Vacuum

The section on anticipated emotional and behavioral responsesto disclosure of genetic status has indeed occurred, as the authorspoint out, in an empirical vacuum. To fill this void, the authorsdraw upon the literature on the psychological aspects of a cancerdiagnosis and the studies of predictive testing for Huntington'sdisease, noting that caution is necessary when generalizing thesefindings to genetic testing for cancer susceptibility.

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

Again, given the speculative nature of the discussion and therelatively optimistic data on coping with Huntington's diseasetesting, we need to be cautious regarding the level of emotionaldistress anticipated among women who test positive. While theauthors note that "80% of relatives of ovarian cancer patientssay that they would be depressed if they had a positive BRCA1result," this may overestimate the number of women who reportongoing depressive symptoms beyond short-term feelings of disappointment,discouragement, and worry.

In addition, although 30% of women at increased risk may experienceincreased distress [4], it is unclear whether this can be labeled"functional impairment," or whether it is directly attributableto concerns about personal risk status vs concerns for an affectedrelative. Moreover, while increased distress has been shown tolead to avoidance of certain breast cancer screening practicesin some studies [5], the impact of emotional distress on adherenceto different breast cancer screening modalities is less clearin other investigations [1,4]. Finally, women at increased riskwho opt for genetic testing may be quite different from the largergroup of all women at increased risk. The former may be quitevigilant about screening practices.

Family Issues Very Complex

The authors make the excellent point that "clinicians wholack experience in genetic testing can underestimate the psychosocialcomplexities of providing this type of information to patients."Family issues promise to be a very complicated consideration ingenetic testing. Drs. Lerman and Croyle stress the need to discussfamily relationship issues and the impact of genetic informationon the family before and after the communication of test results.Not unlike the issue of how to incorporate screening and clinicalpsychological services into genetic testing services, the detailsof how best to organize and conduct family discussions remainsa significant question mark.

The authors make an interesting point regarding the spouse asa "forgotten person" in genetic counseling. While thestrain of the test process may exacerbate problems in maritalrelationships, the cancer survivorship literature may providesome room for optimism; in one study, the majority of cancer survivorsreported that their marital relationship was satisfactory or betterafter the diagnosis than prediagnosis [6]. This may also be truefor family relationships. We should not assume that increasedfamilial strife is necessarily a sequela of individual genetictesting decisions. More generally, it may be helpful to considersurvivor data as it relates to spheres of functioning outsidethe marital relationship, such as the psychological functioningof individuals with nonsymptomatic cancers and their quality-of-lifelevels over time.

Predisclosure Education and Informed Consent

Finally, the authors address the issue of providing predisclosureeducation and informed consent. Specific elements to be addressedare quite extensive, including (in addition to those listed bythe authors) treatment of breast cancer and the strengths (vslimitations) of options for prevention and surveillance. The authors'recommendation to disclose genetic information at a second visitis strongly seconded by this reviewer. More debatable is theircontention that providers should play a more active role in thegenetic testing context. If "active" is defined as moredirective specific to the decision to have genetic testing, thisawaits further empirical evaluation. If the authors refer specificallyto following a course of increased surveillance after a positivetest result, that is much less arguable.

Overall, Drs. Lerman and Croyle do an excellent job of providingan overview of critical areas relevant to genetic testing forcancer susceptibility. The decision to undergo genetic testingand the decision of what follow-up care to provide for women witha strong family history who opt for or against testing are difficultones. We need to carefully learn more from patients undergoingthis difficult decision-making and adjustment process. The authorsaccurately note that these decisions constitute a significantchallenge to cancer-care providers and demand further empiricalscrutiny.

References:

1. Lerman C, Kash K, Stefanek M: Psychological consequences ofbreast cancer risk notification in younger women. J Natl CancerInst 16:171-176, 1994.

2. Tibben A, Duivenvoorden HJ, Vegter-van der Vlis M, et al: Pre-symptomaticDNA testing for Huntington's disease: Identifying the need forpsychological intervention. Am J Med Genet 48:137-144, 1993.

3. Stefanek M, Shaw A, DeGeorge D, et al: Illness related worryamong cancer patients: Prevalence, severity and content. CancerInvest 7(4):365-371, 1989.

4. Kash K, Holland J, Halper M, et al: Psychological distressand surveillance behaviors of women with a family history of breastcancer. J Natl Cancer Inst 84:24-30, 1992.

5. Lerman C, Daly M, Sands C, et al: Mammography adherence andpsychological distress among women at risk forbreast cancer. JNatl Cancer Inst, 85:1074-1080, 1993.

6. Cella D, Tross S: Psychological adjustment to survival fromHodgkins disease. J Consult Clin Psychol, 54(5):616-622, 1986.