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Role of the Genetic Counselor in Familial Cancer

Role of the Genetic Counselor in Familial Cancer

The authors have compiled an excellent summary of the basic components of cancer risk counseling and the role of the genetic counselor in this process. They note that such counseling may have a different scope, depending on the individual's level of risk. They also point out that the approach to each case tends to be unique, due to individual psychological concerns, interpretation of family history and available risk data, and options for genetic testing and prevention or early detection. I would like to expand on the topics discussed in four major areas: counseling cancer survivors, the role of oncologists and primary-care physicians in cancer risk counseling, informed consent issues, and directions of current and future research.

Counseling Cancer Survivors: Genetic Testing and Pretest Education

The authors focus their article on counseling individuals at risk for cancer. However, the special concerns of cancer survivors should also be addressed. As Peters and Stopfer mention, predictive genetic testing, via linkage analysis or direct mutation screening, usually does not occur unless at least one or several affected relatives have also undergone testing to establish linkage to the gene in question or the presence of a disease-conferring mutation. A priori, this establishes a situation in which family members with cancer may feel somewhat pressured to participate in testing programs for the benefit of individuals wishing to know their own risk status. In many instances, although the consultand (person being counseled) has received comprehensive genetic counseling, the affected relatives may be distantly located, and thus, may not be able to make arrangements for similar pretest education.

Informing the Relatives

In such situations, it is important that these individuals receive from the consultand or genetic counselor a description of the study and a copy of the informed consent form before being asked to provide a blood sample for testing. In many cases, affected relatives will have prior knowledge about the study since they were probably asked to help obtain documentation of their cancer history. The counselor should be sensitive to the timing of an invitation for affected relatives to participate in genetic counseling and testing, as individuals newly diagnosed or currently undergoing treatment are usually and appropriately concerned first and foremost about their recovery. When contacting these relatives by phone, the counselor should explore their understanding of the study and their reasons for participation, explain the informed consent, and importantly, emphasize that positive results could have implications for them, in addition to the consultand.

Participants should understand the potential medical and psychosocial consequences of a positive result-the former being the possibility that they may be at increased risk for additional primary cancers, and the latter evoking concerns about insurance issues and possible feelings of guilt and changes in self-image. Because of the seriousness of these ramifications, participants are strongly encouraged to attempt to receive their results, whether positive or negative, in person, and if possible, from the genetic counselor coordinating the study. Alternatively, the genetic counselor can usually arrange to coordinate test results disclosure with a conveniently located colleague (ie, a genetic counselor, an oncology nurse, or a physician) and then follow up personally by phone. It is preferable not to convey results in a letter or over the phone, even if negative, although it is recognized that in some highly unusual circumstances, particularly with very large families that have had long-standing relationships with the investigators, this situation may be unavoidable. In these instances, close follow-up becomes even more critical.

There is always the possibility that some affected relatives will agree to participate in genetic studies but will ask not to personally receive results. In accordance with the ethical doctrine of patient autonomy, this decision is acceptable in the setting of properly obtained informed consent. However, it may be worthwhile to recontact some of these individuals once results are available to confirm their intentions. Again, one must be concerned about the potential for coercion, especially when the results are known. Of course, there exists the strong possibility that these individuals will learn of their results second-hand, without the benefit of proper education and counseling.

Pretest Education

When the genetic counselor is able to provide pretest education in person to cancer survivors, the tone and flow of the session(s) tend to be somewhat different from those in which the consultand has no history of cancer. While it is still important to elicit a detailed medical and surveillance history, the focus of the session with survivors is often on reasons for participation in genetic studies. The counselor should acknowledge that participation for the benefit of other relatives is perfectly acceptable but that the possibility of a positive result and the risk for other cancers are serious potential implications. This information should be sensitively conveyed by the counselor so as not to undermine the individual's sense of having successfully combated the cancer. It can often be devastating for these individuals to learn that they may be at substantially increased risk for other cancers, especially if their physician has not addressed this possibility.

In discussing the approach to risk assessment, counselors often inform patients of the tremendous utility of family history information but must also caution them about the inherent limitations of these analyses, such as the inability to distinguish sporadic from inherited cancers and the difficulty in attributing environmental or exogenous factors as causative. Although second primary tumors are often a hallmark of inherited cancer, they may also be due to the effects of prior cancer treatment or to other, as yet poorly understood epidemiologic associations. Regarding the latter point, all women with a prior history of breast cancer face some increased risk for contralateral breast cancer [1,2], ovarian cancer [3], and, possibly, other adenocarcinomas [4]. These risks are obviously drastically increased if the woman's family history is suggestive of a hereditary cancer syndrome, but nonetheless should be addressed routinely when counseling this special population and when formulating guidelines for surveillance in conjunction with the woman's oncologist.

In addition to the possible risks for second primary cancers due to an inherited predisposition, it is important to recognize that some seemingly "atypical" occurrences of cancer may be treatment induced. For example, studies have revealed that patients with Hodgkin's disease treated with radiation to the upper part of the body (mostly to the mantle field), with or without chemotherapy, have an increased risk of developing breast cancer, depending on the age at which they were treated for Hodgkin's disease [5,6]. A 1992 study by Yahalom et al [6] suggests that these patients tend to be younger (41% were 39 years old or younger) and have a higher rate of bilateral disease than patients with primary breast cancer. It is therefore critical to ensure that follow-up for young women with Hodgkin's disease includes frequent breast examination and prudent use of mammography, both initiated routinely before the age of 35 years [7]. When considering cancer risks for women with a prior history of breast cancer treated with regional radiation and alkylating agents, the counselor should be aware that these individuals have an increased likelihood of developing acute nonlymphocytic leukemia [8].

Other concerns that may be relevant to some cancer survivors involve issues of decreased fertility after treatment, especially after radiation and/or chemotherapy with alkylating agents. For some women, risks of miscarriage and other pregnancy complications may also be increased. Although radiation and chemotherapy are potentially mutagenic, it does not appear that the risk of congenital malformations in offspring is higher than the population average. Mulvihill and Byrne provide a general overview of these issues [9].

Role of Oncologists and Primary-Care Physicians in Cancer Risk Counseling

It seems apparent that genetic counselors should not be the first professionals to broach the issue of second primary cancers with survivors. Indeed, the patient's oncologist should address these issues and assimilate family history information into clinical management decisions. At a minimum, physicians should collect and recognize family histories that are suggestive of inherited cancer predisposition syndromes. These evaluations are critical, for example, in determining that mastectomy and possible contralateral prophylactic mastectomy may be a more appropriate treatment strategy than simple lumpectomy for a woman with breast cancer if her family history is consistent with an inherited breast cancer predisposition syndrome, especially if there is a history of bilateral and/or multifocal tumors. Similarly, a woman with early-stage colon cancer and a family history of hereditary nonpolyposis colon cancer should be considered for subtotal colectomy given her high risk for synchronous and metachronous colon cancers. In addition, the possible advantages to performing concomitant prophylactic hysterectomy and oophorectomy should be discussed.

Given the demands on physicians' time, interested patients will have to be referred for comprehensive genetic counseling. However, commercial companies have already been directly marketing genetic tests to physicians. These include tests for inherited cancer susceptibility and genetic markers of cancer prognosis. Thus, it seems inevitable that physicians will become largely responsible for offering and interpreting such tests, especially since the number of genetic counselors and nurses specially trained in oncology is very small.

Numerous studies have demonstrated that providers' attitudes about genetic testing are influenced by their age, gender, knowledge, and specialty [10-12], factors that also may affect the provider's level of directiveness in offering testing (ie, recommending testing to patients, as opposed to discussing it as an option) [13]. In addition, it has been shown that individuals with a family history of cancer are often very anxious [14,15], which may also influence the provider's decision about testing. For these reasons, guidelines should be established so that physicians are equipped to responsibly address what is sure to be a great demand for testing. It is the obligation of those of us who are currently involved in cancer risk counseling and genetic testing to work together with physicians and other involved professionals to meet these needs. These points were raised recently at a national workshop sponsored by the National Cancer Institute [16-18].

Informed Consent

One of the issues that will be critically important as consumers become more aware of genetic testing, and as such testing becomes more widely available via the commercial domain, is informed consent. The authors describe the minimal components of standard informed consent, as well as the complexities that should be addressed germane to cancer susceptibility testing. I will emphasize two significant points. The first relates to insurance issues. Patients should be informed of the potential for insurance problems and how these may be minimized. Some investigators have obtained from the federal government a "certificate of confidentiality" to protect research subjects from having their records subpoenaed, but this document clearly does not provide a practical level of protection.

The Ad Hoc Committee on Genetic Testing/Insurance Issues of the American Society of Human Genetics nicely outlined issues to be considered in policy development [19]. With or without health-care reform, it is time for those of us involved in the provision of genetic services to mandate nationwide legislation to protect our patients from discrimination. In the meantime, participants in genetic research should be encouraged to speak candidly with their physicians about insurance concerns. Consultands already know that their medical records contain information about their family history but should be cautioned about written communication of genetic counseling or testing assessments. In many instances, a persistent physician could justify additional interventions or prophylactic surgery to the insurance company based only on family history.

This raises the second point about which consumers should be educated, namely, that there are no standardized protocols for clinical management of individuals with a family history of cancer or for those carrying disease-conferring mutations. Although such protocols are being formulated based on clinical experience, the community awaits prospective and, where possible, randomized studies to guide their development.

Directions for Ongoing and Future Research

The issues raised by the authors and the additional concerns discussed in this commentary suggest more questions than answers. Therefore, it may be useful to summarize some of these points by noting a few areas of current and future research:

  1. Development of minimal components of informed consent for genetic testing and methods for optimal delivery of such information;
  2. Determination of the psychological and behavioral impact of cancer risk notification and appropriate methods of intervention;
  3. Assessment of providers' level of knowledge and attitudes about cancer susceptibility testing and development of appropriate educational programs and referral networks; and
  4. Development of recommendations for clinical management of individuals carrying mutations predisposing to cancer.


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19. Ad Hoc Committee on Genetic Testing/Insurance Issues, ASHG: Background statement: Genetic testing and insurance. Am J Hum Genet 56:327-331, 1995.

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