Inherited Disorders and Birth Defects

Frequently Asked Questions About Genetic Counseling

What is Genetic Counseling?

Genetic counseling involves providing information, education, and support to individuals and families who have a genetic condition or who may be at increased risk for developing a genetic condition. Genetic counseling also includes providing information, education, and support to those people who may be at risk for having a child with a birth defect or genetic condition. Medical geneticists and genetic counselors are specialists trained to provide these services.

What is the philosophy of Genetic Counseling?

Genetic counseling is not about preventing the occurrence of a genetic disorder. Rather the objective is to educate individuals and their families about possible risks, complications, and implications of genetic conditions. Counseling also is designed to educate individuals and families about the resources available to persons who are directly or indirectly affected by a genetic disorder. Because of other variables that inevitably affect a person's decision making process - race, gender, cultural beliefs, religion, attitudes toward medicine and health - persons at risk for a genetic disorder, or those at risk for giving birth to a child with a birth defect or genetic disease, may feel overwhelmed sorting through these issues. By providing expert information and helping individuals consider and explore the possibilities, genetic counselors can reduce confusion and promote informed decision-making. The goal is to help individuals arrive at a decision with which they are comfortable and confident and that preserves their right to act independently.

For example, consider a couple who has given birth to a child with spina bifida and who is considering another pregnancy. The genetic counselor could assist the couple by providing information about:

The likelihood of them giving birth to another child who has spina bifida
The role that folic acid plays in helping to reduce birth defects
What resources and support groups are available
Appropriate prenatal testing options
The implications of continuing or terminating a pregnancy.

The counselor also wants to determine the extent to which coping and support mechanisms are available to the couple through other family members or healthcare resources. In addition to helping educate the couple, the counselor also serves as their advocate, offering support regardless of the choices made.

Who is part of the genetic counseling team?

The team typically consists of genetic counselors, medical geneticists, and PhD geneticists. Genetic counselors have received extensive education and training in medical genetics and genetic counseling from an accredited training program. Medical geneticists are physicians who also have extensive training in clinical genetics. PhD geneticists provide expertise and knowledge based on the laboratory study of genetic conditions. Genetic specialists should have certification from the American Board of Genetic Counseling or the American Board of Medical Genetics. Many other health care providers, such as nurses, psychologists, and social workers, may be part of the genetic counseling team.

Who should see a Genetic Counselor?

Evaluation and counseling is appropriate for any individual or family with concerns about a genetic condition or birth defect. Perhaps an individual might be interested in a test that can help determine the diagnosis and if the condition is genetic. People might want to know if they or their family members are at an increase risk to develop a disease in the future such as cancer or diabetes. Women interested in having children may be concerned about the risk of birth defects; or those who have given birth to a child with a genetic disorder may seek guidance about the condition. Families with a history of genetic disorders may be concerned about passing the condition on to offspring. All of these scenarios warrant genetic counseling.¹

What are some specific examples of issues for which Genetic Counseling is recommended?

Birth defects, such as congenital heart defect, spina bifida (open spine) or cleft lip and cleft palate, Cystic fibrosis, muscular dystrophy, Down syndrome, neurofibromatosis, and Huntington's disease
Mental retardation
Disorders that include blindness, deafness, neurological problems
Metabolic diseases, such as phenylketonuria (PKU)
Diseases that run in families, such as cancer, diabetes, kidney disease, heart conditions, and mental illness (manic depression, schizophrenia)
Infertility, stillbirths, multiple miscarriages, or infant deaths
Marriage between persons who are related by blood
The association between ethnicity and genetic conditions: Tay Sachs disease in people of Jewish descent or sickle cell anemia in African Americans

What kind of information and guidance is provided by Genetic Counselors on issues related to fertility and pregnancy?

Pregnancy at age 35 and up
Prenatal testing (maternal serum screening, abnormalities found on ultrasound, amniocentesis, or chorionic villus sampling)
Effects of infections, radiation, medications, and drugs or alcohol on pregnancy and birth
Health problems such as diabetes, high blood pressure, or seizures.

What can you expect to happen at a visit to a Genetic Counselor?

Depending on the issue or condition, you may be asked to supply medical records, results from previous medical testing, or family photographs. You might also be asked to provide a family tree (known as a pedigree). You should be prepared to answer questions that relate to:

Medical history
Pregnancy (e.g. problems during pregnancy, past illness or drug use, difficulties during delivery)
Developmental history of a child (e.g. when did the child first roll over, sit up, begin to talk and walk, master toilet training, etc.)
Family health history including doing a family tree (pedigree)

If the issue relates to diagnosis of a genetic condition, the members of the genetics team will discuss how the condition can be managed and what the long-term implications are of having the condition. The genetic counselor can educate you about tests that determine whether or not a person is a "carrier," that is, someone who has an abnormal gene that could cause birth defects or disease in her children. If you are a carrier, genetic counseling can help determine the likelihood of passing on an abnormal gene. If you have a genetic disorder, genetic expertise can help determine the likelihood (recurrence risk) of the disorder arising in other family members.

If you are concerned about developing a genetic disorder later in life such as cancer or Alzheimer’s disease, a genetic counselor can help you decide what testing would be appropriate and give you recommendations for follow-up. In addition to providing support and encouragement, the genetic counselor may direct you to other appropriate healthcare professionals or resources.

Depending on the reasons for seeking genetic counseling, you may only need to see the genetic counselor or genetics team once, or you may need to return for additional appointments to discuss test results or new information. In general, most genetic counseling appointments last one to two hours.

Resources

If you would like to talk to a genetic counselor or make an appointment with a genetics center in your area, you can contact the National Society of Genetic Counselors, or contact your primary care provider and ask them to direct you to the nearest genetics center.

Reference

1. National Society of Genetic Counselors (1995). Genetic Counseling: Valuable Information for You and Your Family. Wallingford, PA: National Society of Genetic Counselors, Inc.