The Profession of Genetic Counseling
By Karen R. Eanet, MS

In contrast to other healthcare specialties, genetic counseling is a field still in its infancy. The first organized group of genetic counselors graduated from the Sarah Lawrence College graduate program in 1971. The National Society of Genetic Counselors (NSGC), the official professional organization representing the field, was formed in 1979. Currently, there are about 2000 members in NSGC. There are over two dozen graduate programs in genetic counseling in the United States and Canada that offer Master's degrees and produce over 100 graduates every year.

The History
The most often quoted definition of genetic counseling was published in 1975 by the American Society of Human Genetics (1): "Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family." The process incorporates the following key components: medical and genetic education, risk assessment, facilitation of decision-making and psychological support for families at risk for or affected by genetic disease. Non-directiveness, respect for client autonomy, and empathy are basic tenets of this process. A textbook devoted to the complexity and components of genetic counseling was recently published in 1998 (2).

Genetic counseling began in the pediatric setting, with families of children affected by rare diseases. As our knowledge base grew and with the advent of prenatal diagnosis, the field expanded into the obstetrical area. Recently, as a direct result of the Human Genome Project, predictive genetic testing for an ever-increasing number of common adult onset disorders has become a reality. For those cancers known to have a genetic component (e.g. breast/ovarian, colorectal), high-risk families can now obtain more information through genetic counseling and DNA-based testing. Moreover, since most individuals tend to overestimate their risk of developing cancer, they can benefit greatly from a careful assessment of their risks as part of genetic counseling.

The Elements
While variation in practice exists, most cancer genetic counseling sessions include components basic to the genetic counseling process as well as those specific to cancer risk assessment. As a first step, genetic counselors gather information about the client's expectations, and confirm the diagnosis through additional medical information. A complete family and medical history, including the client's current screening practices, such as mammography and breast self-exam, are obtained. The client's experience with cancer and feelings about the magnitude of his or her risk are explored. Basic genetic concepts as they relate to cancer are provided and, finally, the counselor then supports the client in reaching an informed decision.

Risk assessment, an essential part of this process, requires an awareness of natural and external risk factors, an understanding of how the client perceives risk, and an understanding of the limitations and benefits of available models to assess risk. There are several risk assessment models for breast cancer, each of which may be appropriate under specific individualized circumstances. In many cases, risk assessment demands an integration of several models in developing a range of risk for the client. The interpretation of this risk is often intricate, subjective, and can be emotionally charged. A women who has taken care of her mother who died from breast cancer in her 50s has an altogether different feeling about her own risk than a woman with a maternal aunt who was diagnosed with breast cancer in her 50s and is still alive in her 70s. Evidence suggests that risk assessment and interpretation have the potential to alter health-related behaviors, and, therefore, must be clearly and precisely addressed.

In addition to personalized risk assessment, genetic counseling provides the opportunity to better understand the meaning of genetic testing. Through a detailed discussion of the benefits, risks, and limitations of genetic testing, along with detailed interpretation of test results, misunderstandings can be avoided. For example, a negative test result for a woman at high risk for breast cancer based on family history does not mean that she will not develop breast cancer or that her risk is necessarily decreased. Similarly, a positive result does not guarantee the development of cancer.

The Implications
While there is a growing awareness of the potential for possible insurance and employment discrimination based on the results of genetic tests, many people do not consider the broader implications of genetic testing on their families. During the counseling session, this impact is discussed with clients and other family members identified as being at risk prior to testing. In many families, due to distance or estrangement, relatives may not have contact with each other and/or may be reluctant to discuss medical conditions or share genetic testing results. This places a significant strain on family relationships. Genetic counseling can help the client deal with these feelings and anticipate other non-medical issues that may arise. A distinct phenomenon known as "survivor guilt" has been documented in some families with strong histories of breast cancer. Subsequent to testing, individuals found not to carry a gene mutation may feel guilty and undergo emotional stress at having been spared the "family disease." Although additional psychological consequences of testing are possible, such as increased anxiety, anger, and depression, many people feel that having test results, whether positive or negative, provides relief from the unknown. Practical issues may be discussed, such as who should have access to the results and how to contact other family members. Finally, options for further screening, chemoprevention and possible prophylactic surgery are presented.

Despite the availability of trained genetic counselors and a great deal of written material on the subject, there are still many misconceptions about what genetic counselors do. Some regard genetic counseling solely as a didactic educational tool, describing the behavior of genes and familial inheritance patterns in "easy-to-understand" language. Others consider genetic counseling as a short-term therapeutic experience, helping clients and families cope with the complexities of genetic disease. Still others believe that the duty of a genetic counselor is to guide couples facing difficult decisions about pregnancy options or prenatal testing. In reality, genetic counseling integrates all of the above with special attention to the underlying psychological issues unique to each client interaction. Genetic counselors are trained to communicate information in a manner that allows clients to fully understand and act on it. With this background and training, experienced genetic counselors are well equipped to handle the complex nature of cancer risk assessment and genetic testing for hereditary cancer susceptibility genes. With appropriate genetic counseling, clients can be prepared to give truly informed consent prior to genetic testing, and will be better equipped to deal with the test results.

Karen Eanet in a genetic counseling session

References

American Society of Human Genetics (1975). American Journal of Human Genetics, 27(2): 240-2.
Baker, DL, Schuette, JL and Ulmann, WR (Eds.). (1998). A Guide to Genetic Counseling. New York: Wiley-Liss.

Karen Eanet is a genetic counselor with the Harvey Institute for Human Genetics at Greater Baltimore Medical Center.