Genetic Counseling Health Article

Adult genetic counseling

Adults may seek genetic counseling when a person in the family decides to be tested for the presence of a known genetic condition; when an adult begins exhibiting symptoms of an inherited condition; or when there is a new diagnosis of someone with an adult-onset disorder in the family. In addition, the birth of a child with obvious features of a genetic disease leads to diagnosis of a parent who is more mildly affected. Genetic counseling for adults may lead to the consideration of presymptomatic genetic testing. Testing a person to determine the likelihood for a condition existing before any symptoms occur is an area of controversy. Huntington's disease is an example of a genetic disease for which presymptomatic testing is available. This is a neurological disease resulting in dementia. Onset of the condition is between 30 and 50 years of age. Huntington's disease is inherited in an autosomal dominant pattern. If a person has a parent with the disease, the risk of being affected is 50%. Would presymptomatic testing relieve or create anxiety ? Would a person benefit from removal of doubt about being affected? Would knowing about the condition help a person with life planning? Genetic counselors help people sort through their feelings about such testing and whether or not the results would be helpful to them.

Cancer genetic counseling

A family history of early onset breast, ovarian, or colon cancer in multiple generations of a family is a common reason a person would seek a genetic counselor who works with people who have cancer. While most cancer is not inherited, there are some families in which a dominant gene is present and causing the disease. A genetic counselor is able to discuss the chances that the cancer in the family is related to a dominantly inherited gene. The counselor can also discuss the option of testing for the breast and ovarian cancer genes, BRCA1 and BRCA2. In some cases the persons seeking testing have already had cancer but others have not. Therefore, presymptomatic testing is also an issue in cancer genetics. Emotional support is important for these people, as they have often lost close relatives from cancer and are fearful of their own risks. For families in which a dominant form of cancer is detected through genetic testing, a plan can be made for increased surveillance of disease symptoms.

Ethical issues in genetic counseling

Prenatal diagnosis of anomalies or chromosomal abnormalities may lead to a decision about whether or not a couple wishes to continue a pregnancy. Some couples choose to continue a pregnancy. Prenatal diagnosis gives them additional time to emotionally prepare for the birth of the child and to gather resources. Others choose not to continue a pregnancy in which problems have been diagnosed. These couples have unique emotional needs. Often the child is a very much desired addition to the family and parents are devastated that the child is not healthy. Presymptomatic testing for adult-onset disorders and cancer raises difficult issues regarding the need to know and the reality of dealing with abnormal results before symptoms occur. The National Society of Genetic Counselors has created a Code of Ethics to guide genetic counselors in caring for people. The Code of Ethics consists of four ethical principles:

• Beneficience is the promotion of personal well-being in others. The genetic counselor is an advocate for the person being counseled.
• Non-maleficience is the concept of doing no harm to a person.
• Autonomy is recognizing the value of an individual, the person's abilities and point of view. Important aspects of autonomy are truthfulness with persons, respecting confidentiality, and practicing informed consent.
• Justice is providing equal care for all, freedom of choice, and providing a high quality of care.

The main ethical principle of genetic counseling is the attempt to provide nondirective counseling. This principle again points to an individual-centered approach to care by focusing on the thoughts and feelings of each person. Five percent of the Human Genome Project budget is designated for research involving the best way to deal with ethical issues that arise as new genetic tests become available. Genetic counselors can help people navigate through the unfamiliar territory of genetic testing.

Preparation

Persons should be apprised of possible outcomes and given the opportunity to discuss their feelings prior to undergoing genetic tests. There is a burden associated with knowing the probability of a future outcome. Difficult decisions may be required as a result of learning genetic information through testing. The process of adequately preparing an individual for genetic counseling is called informed consent. Ethical genetic counselors always obtain informed consent prior to undertaking any genetic tests.