Genetic Counseling

In time, genetic counseling evolved into a profession. Since the early 1970s genetic counselors have been members of health-care teams providing comprehensive and consistent medical genetic services, while also tending to the social and emotional welfare of the patients and their families. In the United States, the first master's degree training program for genetic counseling was established in 1971. Since then the profession has grown tremendously. There are now more than 2,500 genetic counselors in the United States and 25 genetic counseling training programs. Many industrialized countries have adopted the United States's model of training for genetic counselors, and master's-level training programs now exist in Canada, Australia, Great Britain, and South Africa.

As the profession grows, the definition of genetic counseling also continues to evolve. Genetic counseling is currently defined as "a communication process, which helps an individual and/or family in a variety of ways." For instance, genetic counselors help patients and their families to comprehend the medical facts, including the diagnosis, probable course of the disorder, and available treatment options. Genetic counselors also help educate their clients about the way heredity contributes to the disorder and the risk of recurrence in relatives, and to understand the options available for dealing with this risk of recurrence.

Genetic counselors also teach their clients the medical facts relating to a disorder, enabling them to make informed, independent decisions. They understand that only if their clients possess the necessary facts about available medical care and genetic testing can their decisions be free of coercion. Finally, genetic counselors provide information helpful in accessing local and national support resources.

A key aspect of the genetic counselor's work is educational: helping clients to comprehend the genetic implications of their disorder. In addition, the diagnosis of a genetic disorder in an individual often leads to identification of other family members who may be at risk for having or passing on a genetic disorder, so genetic counselors often work with entire families. For instance, if the genetic tests of a female patient with two sisters disclose that she has a genetic change (mutation) in the BRCA1 gene, then her two sisters are at risk for carrying this same genetic change, which can cause breast cancer. Once the patient has been notified and has given her permission, these sisters would then be contacted and given the chance to learn about their own risk of carrying a disease-causing gene.

A visual representation of the various services offered by genetic counselors.

This second round of counseling is important. Armed with the information about their susceptibility for breast cancer, the sisters might choose to undergo genetic testing themselves, or they might begin early detection screening evaluations. Their new knowledge might also lead them to adopt lifestyle changes that could reduce their risk of developing breast cancer. Even when genetic testing is not available, early identification of at-risk patients and their family members can be valuable and quite possibly lifesaving.

The demand for genetic education and counseling will likely increase as knowledge accumulates about the genetic component of commonly occurring disorders such as breast cancer, Alzheimer's disease, heart disease, diabetes mellitus, and osteoporosis. As a result, a variety of professional specialists, such as genetic educators, physicians, nurses, social workers, medical geneticists, and genetic counselors, will increasingly be called upon to provide genetic education and counseling. Of this group, however, genetic counselors and medical geneticists are the most qualified to perform comprehensive genetic counseling.