Genetic Counseling

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Genetic counseling Summary

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Genetic Counseling

Over the last half-century, our understanding of genetic disorders has increased spectacularly. When facts about inherited disorders first came to light, health professionals began to inform families about probable inheritance patterns and recurrence risks (the likelihood that offspring or other relatives might also inherit the disease).

A couple receives genetic counseling during their sixth month of pregnancy. Genetic counselors are specially trained to provide support to couples whose families have histories of genetic diseases, or who are pregnant and carrying an affected child.

The Need for Genetic Counseling

Receiving a diagnosis of a genetic disorder can have profound impact for both patients and their family members, and it quickly became clear that aside from the need for medical and genetic information, families affected by genetic disorders had educational, social, and psychological needs that required attention. And though families were afflicted with different disorders passed on by different modes of inheritance (autosomal recessive, autosomal dominant, complex, or some other type), certain reactions were observed again and again.

For instance, some parents of children with an autosomal recessive disorder felt profound guilt at having transmitted an inherited disorder to theirchild. On the other hand, a family member who was spared a genetic disorder that other family members developed frequently suffered "survivor guilt." Health-care providers also noted that family members at risk for developing a late-onset disorder live with intense anxiety about the future and often needed support and counseling. Finally, counseling was seen to be of potential help for family members who incorrectly inferred that they were at risk for having a child with a genetic disorder. Attempts to meet these varied needs and help give people a sense of control over their situation resulted in the emergence of a model of genetic education and support that came to be called genetic counseling.

An Evolving Field

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.

Protection as Well as Education

At the same time that they provide beneficial genetic counseling to patients and their families, professionals providing such a service must have a full understanding of the dangers of eugenics. The abuse of genetic information has led to many atrocities in the past. In Germany, the Nazis murdered nearly 7 million "genetically defective" people during World War II and forcibly sterilized nearly half a million others, all in the name of "eugenics"—a policy that calls for the systematic elimination of "unfit" members of the population. The United States also has a checkered past with respect to eugenics. In the early twentieth century, the United States passed laws allowing sterilization of the mentally handicapped and limiting the number of "genetically inferior" ethnic groups that were allowed to immigrate.

In order to prevent such abuses from ever occurring again, the genetic counseling profession has followed in the footsteps of other health-care professions by establishing a code of ethics guiding professional behavior. Policies such as nondirectiveness, prevention of genetic discrimination, respect for patients' beliefs, complete disclosure, and informed consent are components of these ethical principles. Nondirectiveness, one of the major tenets of genetic counseling, is defined by the National Society of Genetic Counselors as enabling "clients to make informed independent decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences."

Genetic counseling has become a vital part of medical genetics. With the knowledge gained from the past and the tools to help patients choose their paths, genetic counseling will continue to be invaluable in the rapidly growing field of human genetics.