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Genetic counselors translate technical information about inherited health disorders into language that can be understood by the average person. They explain health disorders, the available options for testing for or treatment of these disorders, and the risks associated with each option. They also help patients come to terms with the emotional and psychological aspects of having an inherited disorder or disease.
Individuals turn to genetic counselors for a wide variety of reasons. Expectant mothers who are over the age of 35 are advised to screen for birth complications and defects because there is a correlation between advanced maternal age and chromosome abnormalities.
Expectant parents are among the many families who may benefit from genetic counseling. Other couples who already have one child with an inherited disorder or whose families have a history of an inherited disorder may want information about the probability of having another child with that disorder. Individuals whose families have a history of inherited disease, such as Huntington's disease or muscular dystrophy, may want to know whether they have inherited the genes that give rise to these diseases. Individuals whose families have a high incidence of cancer may want to find out whether they have an inherited susceptibility to the disease. Members of specific geographic or ethnic groups in which a genetic disorder is common may also want to determine what their risk is for developing the disorder.
When an individual schedules an appointment, the genetic counselor usually asks the patient to gather as much specific information about the past two generations of his or her family as possible. The counselor may ask for physicians' records, photographs, and anecdotal information. If a patient is concerned about inherited cancer, for instance, the physician wants to know how frequently the disease has occurred in the family, what types of cancer occurred, and at what age family members developed the disease. All of this information provides the genetic counselor with important clues about the patient's genetic probability of inheriting a disease.
Before going any further, the genetic counselor explains the risk associated with genetic counseling and testing. Some genetic testing presents physical risks. For example, one method of obtaining genetic information is through amniocentesis, a procedure in which a physician withdraws a small amount of amniotic fluid from the womb to test for chromosome abnormalities. The Mayo Clinic reports there is between a 1 in 300 and 1 in 500 risk of miscarriage for pregnant women who are tested during their second trimester. The risk is higher for those tested earlier in their pregnancies. Other tests present emotional and psychological risks. If a patient discovers, for instance, that he or she has inherited the genes for Huntington's disease, how will he or she cope with knowing that this disease will develop at some later time? What if a patient wants to obtain genetic information about his or her family, but other siblings do not want this information and refuse to participate in its discovery? Genetic counselors want patients to be aware of and prepared for these situations.
If a patient decides to proceed with testing, the genetic counselor interprets the test results, discusses treatment options, and explains the risks, both physical and emotional, associated with the various treatment options. Throughout the counseling process, the genetic counselor must remain supportive of the patient's choices.
In addition to their counseling responsibilities, genetic counselors often assume administrative or teaching responsibilities. They also discuss test results with laboratory technicians and answer physicians' questions. Some supervise graduate students who are training to become genetic counselors. Because the available genetic information is increasing so rapidly, all genetic counselors must read extensively and attend conferences to learn about new developments in genetic research. Many also strive to educate the public and physicians about the availability of genetic counseling.
Some genetic counselors serve on task forces that explore the many ethical issues surrounding genetic research and testing. These task forces provide information to legislators who must develop laws regarding genetic research, testing, and insurability.