GENETIC COUNSELING & GENETIC TESTING: VBCF’S POSITION

With the recent mapping of the human genome, our ability to decipher genetic codes seems to be within reach. It is our hope for the future that this new genetic knowledge will not only lead to a better understanding of the etiology of diseases such as breast cancer, but will also lead to the development of effective treatments and new preventive strategies. The current reality, as we stand on the precipice of this new knowledge, is that families affected by breast and ovarian cancer must make decisions about their health care before the science is complete and before society has decided how best to integrate this science into our social systems.

Approximately 90-95% of breast cancer is sporadic (i.e., not passed through family members to the next generation). There is a small percentage of men and women who may be identified as having mutations or changes in their genes that are inherited from either their mothers or their fathers and that increase their lifetime risk for developing breast and/or ovarian cancer, and often at younger ages than the general population. Two of these genes are known as BRCA1 and BRCA2. Other genes have been found that if mutated increase the risk of other cancers, but represent a very small percentage of familial breast cancer. It is expected that other genes related to breast cancer will be identified in the future especially as we better understand the complicated interaction genes have with one another. Three particular mutations in BRCA1 and BRCA2 are found more often in people of Ashkenazi Jewish descent than among the general population. Mutations in BRCA2 are sometimes related to male breast cancer. A family history of all cancers must be carefully analyzed before it is possible to decide if genetic testing is likely to yield any useful information, and if so, which genes should be tested.

If a mutation is found in BRCA1 or BRCA2, it does not mean the person will develop breast or ovarian cancer. Likewise, if no mutation is found, it does not mean the person will not develop cancer. The risk for an American woman of developing breast cancer sometime in her lifetime is one in eight and that risk does not decrease even if no known genetic mutation exists. At other times, a genetic test is not able to determine if a mutation exists or not. It often requires a complex explanation of probabilities to make the results of genetic testing useful in making health decisions.

If a mutation is found in either BRCA1 or BRCA2, the person may choose either to undergo surgery, take medication that will reduce the likelihood of developing cancer, or adopt more frequent and intense surveillance in an effort to detect cancer in an early, more treatable, stage. Each individual must carefully consider the risks and benefits of each option before choosing the alternative that best suits their needs at that particular time.

Learning one’s genetic status often is just the beginning of a lifetime of decisions that must be made related to this very powerful information. Just the knowledge of one’s likely destiny may be an unwanted outcome. Unlike other medical tests, this test provides information about a family, not just an individual. Deciding with whom to share this information and when may become problematic, especially with one’s children and extended family. To avoid unnecessary stresses, consideration of how genetic information is to be used and communicated within a family should be done before testing is undertaken.

Both because there is much complex information related to genetic changes associated with breast and ovarian cancer and because this scientific information changes constantly, the Virginia Breast Cancer Foundation (VBCF) strongly recommends that anyone considering genetic testing for breast and/or ovarian cancer consult a specially trained genetic counselor or a medical geneticist to obtain the most accurate information. We also support that insurance cover such consultations and that if a person then chooses genetic testing, insurance also cover testing.

Any person considering genetic counseling or genetic testing must be aware that no federal legal protection exist to protect a person’s genetic privacy or to prevent genetic discrimination in health, life, or disability insurance or in employment. The Commonwealth of Virginia does have legislation that prohibits discrimination based on genetic predisposition for both health insurance and employment. While state legislation is a beginning, it does not provide the protection that is necessary for all family members across the course of their entire lives. VBCF will continue to work with the National Breast Cancer Coalition to help enact effective national legislation. Until that day comes, we recommend weighing the need for privacy and the risk of discrimination carefully against the need to know one’s genetic status.