Definition Genetic counselling is a discussion with a doctor or genetics counsellor about genetic diseases in a family. Genetic diseases are conditions that can be passed on from a parent to offspring. Examples of common genetic disorders are:
People who seek genetic counselling usually have a personal or family history of genetic disease. In some cases, several relatives may meet with the doctor or counsellor.
Who is a candidate for the procedure? Candidates for genetic counselling:
are pregnant women who have been exposed to harmful things in the environment
How is the procedure performed? A doctor or counsellor needs information to be able to perform genetic counselling. First, a family history must be supplied. The family history includes information about relatives who have a genetic disease. It also covers birth defects and miscarriage in the family. If a woman is pregnant, it is important to know if she has been exposed to anything harmful at home or work. Information on diagnosis is important. Sometimes, the family must provide medical records. It is key to know the results of any genetic screening tests that have been already been done. After gathering these facts, the counsellor can determine the person's risk of developing a genetic disease. He or she can also gauge the chances of passing the disease on to children.
Often, genetic counselling can be done immediately after the information is gathered. In other cases information about relatives is needed. This may require a second visit to the counsellor. Sometimes, it is necessary to wait until medical records can be reviewed. A doctor or counsellor also may need time to determine the risk.
Genetic counselling starts with a talk about the diagnosis. Next, the outcome for people with the disease is discussed. The prospects for everyone in the family are covered. Then, the talk moves on to risk factors. The counsellor should first discuss the size of the risk for the affected individual. This will be compared to risk is for anyone in the population. This helps to put the risk into perspective. The choices a person has for dealing with the risk are discussed. These may include genetic testing, treatment, or family planning.
What happens right after the procedure? After counselling people must make decisions about how to deal with the disease. They may have to decide about further testing. They may have to think about family planning, as well. Also, they may need to gather facts about relatives. Individuals may have to request medical records, as well. Follow up genetic counselling sessions are often needed.
What happens later at home? After receiving genetic counselling, the person will have information to take home and review. This will help with decisions that the person needs to make. Also, people may need help in making family planning decisions. They also may need names of experts to contact regarding further questions they may have about genetic disease.
What are the potential complications after the procedure? Genetic counselling can have a major impact on a person's life. People can receive both good and bad news. The information they get may change family planning. They may be told that further tests are needed. Some of the tests may involve a risk for miscarriage.
Author: Ronald J. Jorgenson, DDS, PhD, FACMG Reviewer: eknowhow Medical Review Panel Editor: Dr John Hearne Last Updated: 9/1/2005 Contributors Potential conflict of interest information for reviewers available on request
