Genetic Counseling

The profession of genetic counseling, a relative newcomer to the field of counseling, has been on the leading edge of innovation since its inception in the 1970s. Significant advances in medical technology over the past 40 years have led to breakthroughs in genetic testing along with subsequent improvements in the prevention, analysis, and treatment of genetic disorders. Due to these remarkable developments, the profession of genetic counseling has come to the forefront to meet the challenges of the 21st century and beyond.

Genetic counseling is most commonly defined in the literature as the evaluation of a couple's medical and family history in order to determine the health hazards to a fetus due to a variety of causes. These include exposure to teratogens in the womb (environmental risk factors that adversely affect the fetus), chromosomal damage, and genetic birth defects. According to the Centers for Disease Control and Prevention, approximately 3% of babies are born with birth defects each year.

Some of the most commonly known genetic disorders, such as Down syndrome, congenital heart defects, cystic fibrosis, muscular dystrophy, and spina bifida, are the result of an inherited condition or a genetic mutation at conception or in vitro. Disorders such as Huntington disease and Marfan syndrome can be inherited from just one parent. Other diseases such as Tay-Sachs and sickle cell anemia are found in certain ethnic racial groups and are inherited when both parents carry the gene for the disorder.

Not every expectant parent is a candidate for genetic counseling or testing. Couples are encouraged to seek out this option when the following risk factors are present:

• Prenatal screening tests show abnormalities.
• An amniocentesis procedure uncovers chromosomal abnormalities.
• There is a family history of birth defects or an inherited disease.
• Previous children born to the couple have genetic disorders or existing birth defects.
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• The expectant parent is over the age of 35.
• The expectant parent has had two or more miscarriages, a stillbirth, or a child who died early in infancy.
• Either parent is a member of a particular ethnic or racial group that has a high incidence of genetic predisposition to a disease or disorder.
• There is a history of drug and alcohol abuse in either parent.

When expectant parents decide to pursue the option of genetic testing, sophisticated tests are performed to identify the possibilities of passing on inherited disorders. The test results are then analyzed and interpreted by genetic counselors who work in conjunction with the couple's doctor to help parents assess their options and make decisions about how to proceed with the pregnancy as well as the subsequent birth of the child. Genetic counselors function as part of a healthcare team and act as advocates and referral sources to the families they serve. Supportive counseling is also provided to couples who are dealing with emotional issues that arise as a result of learning that their child has a serious genetic condition.