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Definition of «Counseling, genetic»

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

  1. comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management;
  2. appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives;
  3. understand the alternatives for dealing with the risk of occurrence;
  4. 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
  5. 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.

Once the pedigree is completed and verified, medical tests may be offered to some relatives. These tests may be specialized genetic tests, like a karyotype (chromosome study) or DNA analysis (to detect gene mutations). The tests may also be more general, such as an X-ray, ultrasound, urine analysis, skin biopsy, or physical examination. The cost of the medical testing is not always covered by insurance companies, making it difficult or impossible for some relatives to have a complete genetic evaluation.

After medical tests are completed and records are collected, the genetic counselor may be able to make a diagnosis, or just as importantly, determine that a person does not have or is not at risk for a genetic disease. The pedigree can also be used to estimate the risk relatives face to develop a genetic disease or have a child with a genetic disease.

Genetic counseling involves more than just communicating complex medical information to families. The biggest challenge of genetic counseling is helping families cope with the emotional, psychological, medical, social and economic consequences of genetic disease.

Patients can react in unexpected ways when they learn their genetic risk status. Some people take the information matter-of- factly. Others react with anger, shock, denial, grief, depression, confusion, and guilt. Treating and caring for people with genetic diseases can be expensive, yet some people may lose their jobs and health insurance because of their risk of developing a genetic disease. Someone diagnosed with a genetic disease may be avoided by other relatives because the relatives don't know what to say or because they don't want to face up to the possibility that they too may develop the same genetic disease. Other people may have a hard time understanding the meaning of risk - a risk of 10% may seem high to one relative but seem low to another relative.

Genetic counselors try to help families cope with the many ramifications of genetic testing. Patients who are having severe psychosocial problems may be referred to psychiatrists, social workers, or counselors. Genetic counselors can also help families who are having problems with insurance companies or employers who may not understand the medical implications of genetic testing.

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