Genetic Counseling Health Article

Aftercare

Persons must be provided access to competent counselors and therapists. Such professionals can assist in processing the feelings and reactions that may emerge as a result of receiving the findings of genetic tests.

Complications

The complications that arise from the process of genetic counseling are most commonly mental and emotional. Individuals and couples who have received genetic counseling often experience mental changes such as depression and anguish when they receive unfavorable results about tests. Complications include the need to make difficult decisions regarding themselves, their families, or their unborn children. This is also referred to as a burden of knowing, meaning that likely but unwanted outcomes may become known before they occur. Depending on the condition, personal preferences and situation, persons may elect to continue with a pregnancy that is likely to result in a child with one or more abnormalities, terminate a pregnancy, select a different partner, or decide not to have children. These are all difficult situations that may require the assistance and intervention of a trained mental health counselor or therapist.

Results

The results given to a person during genetic counseling are highly individualized and depend on the nature of tests being performed and the issues of importance to the person being counseled.

The results of the process of genetic counseling vary. Genetic counseling offers information to people, thereby allowing them to make informed choices. Some of the options may not be easy or pleasant to contemplate. However, they are based on hard data rather than on wishes, hopes, or some other non-scientific basis. Genetic counselors have an ethical duty to obtain informed consent from individuals prior to beginning genetic counseling, provide unbiased information and the ability to interact in a non-judgmental or coercive manner.

Health care team roles

Genetic counselors are specially trained members of a health care team who have a master's degree in genetic counseling. They receive referrals from obstetricians, pediatricians, family physicians, and other doctors. They interpret the results of tests from laboratory personnel, medical geneticists, and pathologists. They refer people to therapists and counselors for assistance in resolving issues that arise from the process of genetic counseling.

KEY TERMS

Canavan disease—A serious genetic disease more common among the Eastern European Jewish population that causes mental retardation and early death. Canavan disease is caused by the lack of an enzyme called aspartoacylase.

Cystic fibrosis—A respiratory disease characterized by chronic lung disease, pancreatic insufficiency, and an average age of survival of 29 years. Cystic fibrosis is caused by mutations in a gene on chromosome seven that encode a transmembrane receptor.

Dysmorphic feature—A subtle change in appearance such as low set ears or a flattened nasal bridge that suggests a genetic syndrome may be present.

Fragile X syndrome—The most common inherited cause of mental retardation in males. People with Fragile X syndrome often have large ears, a long face, hyperextensible finger joints, hyperactivity or autism. Fragile X syndrome is caused by an expansion in a gene on the X chromosome. Some females are also affected. Human Genome Project—An international collaborative project among scientists to map the genetic sequence of all the chromosomes. This project is funded by the National Institute of Health in the United States.

Informed consent—Provision of complete information to a competent individual regarding a treatment or test. Part of informed consent is to ensure a person's understanding of the advantages and disadvantages of a procedure and to obtain voluntary authorization to perform the procedure. Sickle-cell anemia—A chronic, inherited blood disorder characterized by crescent-shaped red blood cells. It occurs primarily in people of African descent, and produces symptoms including episodic pain in the joints, fever, leg ulcers, and jaundice.

Tay-Sachs disease—A genetic disease affecting young children of eastern European Jewish descent. This disease is caused by the lack of an enzyme called hexosaminidase A. This deficiency results in mental retardation, convulsions, blindness and, finally, death.

Thalassemia—An inherited group of anemias occurring primarily among people of Mediterranean descent. It is caused by abnormal formation of part of the hemoglobin molecule.