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The ethical dilemma of genetic testing

The 'breast cancer' gene and the physician's role: an ethics case study

From the March 1998 ACP Observer, copyright 1998 by the American College of Physicians.

This is the 19th in a series of case studies with commentaries developed by the ACP Ethics and Human Rights Committee. The series uses hypothetical cases to elaborate on controversial or subtle aspects of issues not addressed in detail in the "ACP Ethics Manual" or in other position statements.

Case history

Ms. Thomson is a 29-year-old healthy woman who is worried about her risk for breast cancer. Her maternal grandmother died in her early 50s of breast cancer. Her 27-year-old sister was recently diagnosed with breast cancer and has already had a lumpectomy, nodal dissection and adjuvant chemotherapy. Her mother's sister died of ovarian cancer at age 50 and her mother's brother, age 60, has recently been diagnosed with prostate cancer. Ms. Thomson's mother, age 49, has refused to get a mammogram or even see doctors, saying that she has little faith that early detection of cancer makes much difference. Ms. Thomson's youngest sister, who is 25 years old, is also worried about her breast cancer risk but has not sought medical attention and has never had a mammogram.

Ms. Thomson has read stories about the breast cancer gene in the local newspapers. The immediate stimulus for her visit was a lecture about breast cancer at the local library hosted by a breast cancer advocacy group.

Ms. Thomson requests that she be tested for the "breast cancer gene." She already does monthly self-breast exams, gets mammograms every six months, and tries to follow a vegetarian diet. She is also worried that her 2-year-old daughter might have the gene. She says she is sure that she has the gene and wants the test only to confirm her suspicions. However, she is unsure what she would do differently if she tested positive.

Ms. Thomson is the first person to request BRCA1/2 testing from Dr. Jackson, a primary care physician whom she recently selected through her managed care plan. He calls an oncologist colleague who makes some inquiries and tells him about various options within and outside research protocols. Ms. Thomson chooses off-site testing through a private laboratory, which also provides information packets for physicians and patients and promises to return test results within two months. The laboratory requires that affected relatives also submit blood samples. After reading through the information packet, Ms. Thomson signs a form that states that she understands the risks of testing. Her affected sister agrees to testing, and after some cajoling so does her younger sister. Both also agree to sign forms that specify that Dr. Jackson will disclose the results only to the person who was tested. Ms. Thomson's mother absolutely refuses to participate in any aspect of the testing.

As promised, the laboratory delivers the results two months after having received the blood samples. Both Ms. Thomson and her sister who has breast cancer test positive for the gene, while the youngest sister is negative. Dr. Jackson asks the entire family to come in for a discussion of the results, but only Ms. Thomson arrives at his office.

Commentary

Neither Ms. Thomson nor Dr. Jackson know how to use the information provided by BRCA1/2 tests, although some groups have begun to offer guidelines. (1) There are no good data on the efficacy of intensive screening for breast and ovarian cancer, prophylactic surgery or any other proposed interventions for women who have genetic mutations. We do not even know the meaning, validity and reliability of these tests. Already, data about genetic risk drawn from less selected populations have led to reducing the positive predictive values of BRCA1/2 testing. (2)

And there are many reasons to worry about the psychological and economic implications of genetic testing, especially access to health insurance, employability and privacy. Given this ignorance and these concerns, many groups urge that genetic testing only be carried out in a research protocol, if at all, and that

vigorous safeguards of patient confidentiality be implemented. (3) But for many others, the genie is already out of the bottle: The test is available and many women want to know if they carry the "gene" for breast cancer. How might we balance a woman's understandable interest in learning whether she carries one of the known mutations in susceptibility genes with our ignorance of the test's significance, costs and benefits, as well as the lack of ironclad safeguards against the misuse of test results? And even if one believes that there should be constraints on, or guidelines for, testing, how will such rules be enforced or even encouraged in our decentralized, free-market, consumer-driven, health care system?

There are no easy answers to these questions. For the immediate future at least, clinicians such as Dr. Jackson and patients such as Ms. Thomson will have to make difficult decisions under conditions of great uncertainty. Internists might best begin by viewing the issues raised by genetic testing as a new but not radically different challenge than that posed by many other screening and diagnostic testing problems in primary care. Experienced clinicians are already good at trying to place a request for testing in the context of their patients' underlying goals, motivations and fears, degree of risk-aversion, and the familial and other influences on medical decisions.

Returning to Ms. Thomson's situation, Dr. Jackson might begin by asking her and himself what she really wants to know. Many patients—and their doctors—cannot really anticipate what they will do with information as potentially devastating as "having the gene" for breast cancer. Ms. Thomson's fatalistic statement that she is sure that she has the gene seems a defensive and rather thin strategy, belied by her interest in getting tested. She may be motivated as much by her desire to rid herself of the fear of breast cancer, something even a negative test cannot do, or to confirm her worst suspicions, which even a positive test cannot do (in fact it will lead to many new uncertainties). Because coping with fear and uncertainty will be a persistent issue regardless of specific test results and management choices, drawing these motivations from Ms. Thomson and explicitly discussing them are as important as assessing whether she is in the "right" risk category for getting the test as recommended by different groups. While Ms. Thomson's strong family history meets criteria for many definitions of high risk, the more important and difficult issue is whether her unique goals, motivations, fears and risk-taking propensities should lead to testing and if so, to which type of testing.

Because the results of this test affect all the women in her family, it is not just Ms. Thomson's particular situation but her family's that must be considered. Yet Dr. Jackson only has a relationship with Ms. Thomson—and a new one at that. While the test has been carried out on all three sisters, only Ms. Thomson comes in to hear the news. What are Dr. Jackson's responsibilities for Ms. Thomson's sisters? It is highly probable that her mother, who clearly does not want to know, also has the "breast cancer gene." The test results also have implications for Ms. Thomson's 2-year-old daughter. This case points out the coercive aspects of genetic testing since the mother's desire to remain ignorant will be difficult to respect and Ms. Thomson's daughter's values and interests are unknowable. As a result of Ms. Thomson's choice to get tested, both her mother and daughter may face problems down the road with insurance and employability.

This situation has no neat solution. One clinical and policy implication is that families should be involved as much as possible in the decision to test in the first place and a good faith effort should be made to work out in advance how the information will be shared. Again, what seems most relevant is not spelling out the need for such familial decision making and full consent, which is as obvious as it is unattainable in many situations, but to advocate for systems of care that not only encourage long-term, trusting relationships between physicians and their patients, but also facilitate effective communication between physicians and patients' families.

In addition to these considerations, some believe that there are moral arguments that point to a duty to warn relatives of their genetic risk. As a practical matter, Dr. Jackson may need to encourage Ms. Thomson to explain the potential risks and availability of testing to her mother and eventually to her daughter (although in all probability, scientific advances will lead to very different tests, treatment options and risk assessments by the time Ms. Thomson's daughter will be in a position to understand the meaning of the current test results).

The case also raises the question of which model of genetic counseling is feasible in the primary care settings in which many women will seek testing and learn their results. Ms. Thomson elected to get off-site testing, and the explanation of risks and benefits was given to her in written materials supplied by the testing laboratory. Her busy primary care physician, who has limited knowledge of breast cancer tests, risks and risk management, was left to fill in the gaps in the consent process in a brief primary care encounter. This is far from ideal but it would be naive to think that the many reasoned calls for more complete and comprehensive education and consent can be grafted onto routine primary care practice.

In contrast to primary care physicians, genetic counselors have traditionally provided future parents with multiple levels of counseling and education and have told parents that they must make their own decision. This intensive and non-directed model differs from usual primary care practices. Blood pressure checks and cholesterol determination happen in shopping malls, let alone in doctors' offices, and typically without much explicit discussion of the risks and benefits of screening. Policy guidelines in primary care typically suggest particular courses of action. For most tests and treatments in the primary care setting, patients also expect their doctors to give them advice.

Clearly, when facing such uncertainty as to the nature of a new and complex form of testing, it is not unreasonable for a physician to refer a patient to a specialist. However, the primary care physician's role as counselor should not be undermined. One solution is to train primary care physicians in the complexities of genetic information, exhort them to be less directive, and reimburse them for the greatly increased time commitment required for more complete consent. This does not seem feasible given the needs and expectations of most patients, the economic realities of primary care practice, and the lack of any central authority to promulgate and enforce standards. In this case, Ms. Thomson chose what seemed at the time to be the least burdensome testing option and Dr. Jackson concurred in her autonomous decision. But they both may now regret their lack of preparation to deal with the results.

Given present constraints, Dr. Jackson might have served Ms. Thomson better if he had adopted his usual practice in primary care screening decisions, which is to stress and simplify the most essential risks and benefits of the different options, and to offer—if asked—his best assessment of what he might do if he were in her position. He might then have encouraged her to delay testing until more detailed knowledge of risks and consequences develops in the medical literature or to choose testing in a research protocol, so that Ms. Thomson's struggles would have value to others and so that she would receive much more intensive counseling and education.

One thing is clear about the ethical and clinical problems raised by testing for genetic susceptibility to breast and ovarian cancer: they may have been created by basic scientific research and technological innovation, but they will not be solved by them. At the bedside and at the level of health policy and regulation, we will need to find ways of balancing the many uncertainties, limitations and negative consequences of genetic testing with the potential-but as yet unproven-clinical benefits and the various social and economic interests and psychological factors that make testing so appealing. The sensitive nature of the information most likely will require legislative intervention to protect patients. But for physicians, given current, and likely, future uncertainty, application of the solid principles and practices of long-term doctor-patient relationships will best serve clinicians and patients alike.

Acknowledgments: The Ethics and Human Rights Committee would like to thank Robert A. Aronowitz, ACP Member, author of this case history and commentary.

References

1. Hoskins KF, Stopfer JE, Calzone KA, Merajver SD, Rebbeck TR, et al. Assessment and Counseling for Women with a Family History of Breast Cancer: A Guide for Clinicians. JAMA. 1995;273:577-585.
2. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, et al. The Risk of Cancer Associated with Specific Mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336:1401-1408.
3. American Society of Clinical Oncology. Statement of the American Society of Clinical Oncology: Genetic Testing for Cancer Susceptibility. J Clin Oncol. 1996;14:1730-1736.

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