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Jill Stopfer, MS Certified Genetic Counselor
University of Pennsylvania Cancer Risk Evaluation Programs
Ultima Vez Modificado: 1 de noviembre del 2001
Is it better to know you're at increased risk of getting breast or ovarian cancer, or not? Is it helpful for a family to know why so many women developed breast and ovarian cancer at early ages, and have a way to identify who is at high risk and who is at average risk? Should women have the right to learn whether or not they've inherited an altered gene, even if there is no guarantee that risk can be reduced?
The key to these questions is that there are no "right" or "wrong" answers, because the answers will depend on individual beliefs, values, coping styles, and preferences. Genetic testing can sometimes raise more uncertainty about the future than provide answers. Genetic counselors can help people wrestling with these difficult questions to try to reach the best possible decision, given each person's unique perspective and life experiences.
Genetic counselors in the United States are nationally certified health professionals who can interpret complex family histories and genetic test results for patients and health providers. They educate women and their families about what genetic testing can tell them, as well as what it can't. In addition, genetic counselors, who have training in psychosocial counseling, help to promote autonomous decision making among the individuals they counsel. Recently, genetic counselors have become members of multidisciplinary teams offering risk assessment and counseling to individuals and families at increased risk for cancer.  Rather than being viewed as a "health care frill," the process of genetic counseling should be considered a mandatory step in the process of genetic testing. The potential for harm from genetic testing is real, and the benefits can be interpreted subjectively. 
Genetic testing for mutations in the recently identified BRCA1 (for breast cancer 1) and BRCA2 genes can help some families determine who is at high risk and who is at average risk. A woman who has a BRCA1 or 2 mutation faces about a 60 to 85 percent lifetime chance of breast cancer, while the average woman has about a 10 to 11 percent chance. A woman with a BRCA1 or 2 mutation also has a 20 to 60 percent lifetime chance of ovarian cancer, compared to a 1 to 2 percent chance for the average woman.  While greater than 90 percent of breast and ovarian cancer is not caused by a single susceptibility gene, women who are found to have one may find their lives permanently altered by the introduction of this powerful predictive information into their family.
Beyond providing a cognitive grasp of the technical information, genetic counseling offers a forum for potential test subjects to personally consider the psychosocial and familial impact of testing. Whom in their family might they tell, and how might they react? Genetic testing information may bring families together, but it can also become a point of contention. One family member may pressure another to be tested. Conversely, there may be pressure not to bring this information into the family. Depending on individual coping styles, women in similar circumstances who have similar risks and understanding of the issues may reach different decisions. This aspect of the genetic counseling is critical, and cannot be achieved by handing a patient a pamphlet, or briefly presenting the cancer risks associated with finding a gene mutation.
Some genetic counselors report an influx of women into their clinics who were tested first and referred for genetic counseling only after a mutation was found. This can only be considered inappropriate and substandard medical care. Some of these women are largely misinformed and have erroneous beliefs about the significance of their results. Some say, if they had known what information testing can't provide, they might have declined having testing, rather than living with the anxiety it unleashed.
There is concern about high risk but cancer-free women who are tested in the absence of a known family mutation. It is critical that they continue to be screened for cancer, even if they are not found to have a detectable BRCA1 or BRCA2 mutation. Some of these women mistakenly believe their cancer risk has now been reduced, when it hasn't. A negative result can be truly reassuring in the presence of a known family mutation. In this scenario, misunderstanding of a test result's significance could be life-threatening if an opportunity to benefit from early cancer detection is missed because of a false sense of reassurance.
Imagine the predicament of a 45-year-old high-risk woman, a single mother of two children, who learns that she has a cancer-predisposing mutation, and is then informed by her health insurance company that her rates will be increased to a monthly premium she can no longer afford. What good is having information about cancer risk if it effectively cuts off your access to health care? Due to the expense, not having access to affordable health insurance in the United States can severely limit access to quality medical care. All too frequently, the decision to test or not is based on fears such as these. While no data exist to tell us realistically what the risks are for genetic discrimination, the sheer possibility of it dissuades many women from testing. Clearly, we must push for more effective national legislation to protect those with identifiable predisposing gene alterations. 
An equally compelling story, which illustrates the benefits of genetic testing, is that of the 38-year-old woman who is recently married. Her new husband understands that the cancer that afflicted her mother and two sisters at early ages may one day affect his bride. Since the family mutation had been discovered through first testing an affected sister, she decides to proceed and learn whether or not she too inherited the high-risk mutation. She learns she didn't. What a relief for her and her family. While still facing the same cancer risks as the average woman, an 11 percent risk for breast cancer is considerably lower than a 60 to 85 percent risk in mutation carriers. In addition, this woman felt that she would have prophylactic oophorectomies soon, if she were found to have a mutation, since ovarian cancer took her beloved sister at the age of 42. Now she plans to have several children, and puts away all thoughts of prophylactic surgery. Even this woman, who receives good news, may feel guilty for escaping the problems affecting her loved ones, but she and her new husband also have an opportunity to take a different approach and have a new outlook to planning their lives together.
The clinical value of genetic testing for breast and ovarian cancer susceptibility is an issue that seems to be polarizing both the medical and cancer advocacy communities. Some claim it to be of little significant value, since we have no known, proven method of eliminating cancer risk once it has been identified. And without significant revision to current federal legislation , the risk to insurability for some outweighs any possible benefit that testing could offer. For these reasons, some believe that testing should be offered only through structured research protocols, and that it is premature to offer commercial testing through cancer risk programs or physician offices.
Research participants are afforded several layers of protection: Their results do not have to be included in a medical record, so the risk of genetic discrimination for people who learn they have a mutation may be minimized. However, research results do not always remain confidential. Once a person starts to use the information to justify health care decisions, such as prophylactic surgery, sometimes revealing genetic test results provide the only mechanism to convince an insurer to pay for intensive and often expensive follow-up. In addition, even research results may become available to an insurer if a health care provider records the information in a medical chart - and women often appropriately feel the need to inform their physicians about test results, since they want advice and guidance in managing their cancer risks.
Participants in research protocols now are also most likely to receive adequate information and genetic counseling prior to and after being tested, since funded proposals go through a peer review process. In addition, there are well-trained professionals at cancer risk assessment programs - many of them located in NCI-designated comprehensive cancer centers - who are providing adequate genetic counseling, outside of a purely research protocol. Although there are serious limitations and drawbacks to genetic testing to consider, those who have received genetic counseling and who understand what testing can and cannot tell them should be able to chose whether or not to proceed with the test. As with many of life's more complex choices, the possible benefits for some may clearly outweigh the risks, while for others, testing would not provide useful information, and could in fact be harmful.
Many families learn that the chance of finding an altered BRCA1 or BRCA2 gene is remote, and elect to forgo testing. However, for those who are candidates for testing, it is usually optimal to delay the decision to be tested until there has been time to think carefully about the potential ramifications. Families tell us that just grasping concepts like genetic susceptibility, dominant inheritance, and genetic testing are difficult, and it is better to hear the information more than once. Providing written materials is also helpful. Many programs schedule a second session, at which time the decision to proceed with testing, or decline or delay testing, is reached. Results are often given in person to maximize the opportunity to communicate accurate information.
Common threads in counseling for genetic susceptibility to disease are the complexity of the information and the ability of the information to impact not just the person being tested, but the family as well. Personal risk information has the potential to motivate a high-risk woman to adopt screening that may promote early detection of cancer. The information may also devastate the mother with breast cancer who learns that all three of her adult daughters have also inherited this cancer susceptibility.
Every person considering cancer predisposition testing should have the opportunity to receive appropriate information and genetic counseling. Testing decisions are not only highly personal - they can also be permanent. One cannot "unlearn" a test result revealing the presence of a cancer predisposing mutation. Testing decisions may be easier in the future, as the options improve for those found to carry a gene mutation. Better treatment, early detection, and even prevention strategies based on our knowledge of how these genes are linked to cancer are on the way. Knowledge can be empowering when it helps to cope more effectively with a situation. Genetic testing can provide that for some families. However, genetic test results are powerful and can have the opposite effect. Anxiety, despair, and fear of the future and the possibility of genetic discrimination may await those who would be better off not knowing. Until "fixing" the genetic alteration becomes a simple, routine procedure, cancer predisposition testing must not be construed as a simple or routine blood test. Skilled genetic counseling is not just for individuals and families where a gene mutation has been found. It should be offered before as well as after testing so that thoughtful and personal decisions can be made about whether receiving this powerful insight to future health risks will be of benefit or not.
Jill Stopfer is a certified genetic counselor and the familial cancer coordinator at the University of Pennsylvania Cancer Center.
Reprinted with permission from BioMedNet Ltd. © 1997
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