Counseling, genetic

Counseling, genetic
An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions. The American Society of Human Genetics in 1975 adopted the following definition of genetic counseling: Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of an occurrence, of a genetic disorder in the family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; understand the alternatives for dealing with the risk of occurrence; choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, to act in accordance with that decision; and to make the best possible adjustment to the disorder in an affected family member and/or the risk of recurrence of that disorder. What goes on in genetic counseling has been described by Robert G. Resta, a genetic counselor at Swedish Medical Center in Seattle, WA as follows: Some genetic counseling sessions are simple and require only one visit. Other times, multiple sessions are needed to collect additional information, to update the family or to deal with ongoing medical and/or psychosocial problems. The first step in a genetic counseling session is to determine why the patient or family is seeking genetic counseling and to identify what information they wish to get out of the session. Usually only one or two family members attend a counseling session. Sometimes cousins, in-laws, siblings, and grandparents may come. For genetic counselors, the family is the patient, not just the person affected, or potentially affected, with a genetic disease. An accurate pedigree is an important part of genetic counseling. A pedigree is used to help make a diagnosis of a genetic disease, to determine a person's risk of developing a genetic disease or to determine the risk of having a child with a genetic disease. At minimum, a pedigree includes first degree relatives (parents and siblings), second degree relatives (aunts and uncles) and third degree relatives (cousins and grandparents). The counselor may ask questions about more distant relatives like great-uncles or second cousins when necessary. Besides depicting familial relationships, a pedigree also contains vital medical information like birth date, age of death, cause of death, health problems, and results of genetic tests. Obtaining medical records on affected relatives can ensure the medical information is accurate. Sometimes, a pedigree reveals confidential information that is not necessarily known to all family members, such as which relatives have genetic diseases or may suggest non-paternity (when the husband is not the father of the baby). Insurance companies may use information from the pedigree to deny health or life insurance to a person at risk to develop a genetic disease. Therefore, extreme care must be taken to maintain confidentiality.

Medical dictionary. 2011.

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