Genetic Counseling

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What is genetic counseling?

In genetic counseling, a specially trained health professional (called a genetic counselor) helps you understand and interpret your and your partner’s heredity from your genes, and explains how they could affect your baby. You could pass on medical conditions that occur or have occurred at some time in your family to your child (inherited). Talking with a genetic counselor is often the first step toward understanding and dealing with diseases or conditions that can be passed down. Certain combinations of genes can also increase your baby’s risk for birth defects.

A genetic counselor can help you examine and make decisions about getting tests and screenings for genetic risks or take preventive measures to avoid passing them on to your baby. Genetic counselors also provide emotional support and can refer you and your family to community or state support services, if needed.

Getting this information while you are planning to get pregnant can help you prepare and make informed decisions throughout your pregnancy. Many large medical centers offer genetic counseling, or your primary care provider can help you find a counselor. You can also visit this website to find a genetic counselor.

Why would I want to see a genetic counselor?

You may want to consider genetic counseling if you and/or your partner:

  • Are concerned about inherited diseases or traits (see list below)
  • Belong to certain ethnic groups that have a higher than usual incidence of a particular genetic disease
  • Have had three or more miscarriages or a baby who died in infancy
  • Already have a child with an intellectual disability, an inherited disorder or a birth defect
  • Are over age 35
  • Are concerned that your lifestyle, job or environment may pose a risk to pregnancy
You might want to talk to a genetic counselor if any of the following conditions are present in your family or your partner’s family:
  • Achondroplasia (a form of dwarfism)**
  • Canavan disease*
  • Cleft palate
  • Club foot
  • Congenital (inherited) heart disease
  • Cystic Fibrosis*
  • Diabetes
  • Dwarfism
  • Gaucher's disease*
  • Hemophilia
  • Huntington's Chorea (a debilitating neurological condition)
  • Intellectual disability (Fragile X Syndrome; some forms of Down Syndrome)
  • Hydrocephalus ("water on the brain")
  • Muscular Dystrophy
  • Phenylketonuria
  • Polydactylism (extra toes or fingers)**
  • Sickle Cell disease or trait*
  • Thalassemia*
  • Tay-Sachs trait or disease*

** These diseases follow an “autosomal dominant inherited pattern,” meaning that only one parent has to carry the gene, the parent usually has the disease, and each child has a 50 percent chance of inheriting it.

*These diseases are “autosomal recessive diseases,” meaning that both parents carry the disease in their genetic make-up and the child has to inherit one copy of the gene from each parent in order to get it. If a woman and her partner both carry the gene, there is a 25 percent chance with each pregnancy that the baby will have that disease. If only one parent carries the gene, the baby will not have the disease.

What inherited diseases are most common in certain ethnic groups?

Among the most common inherited diseases by ethnic group are:

  • Sickle Cell Anemia mainly affects people of African descent
  • Tay-Sachs disease, a central nervous system disease, primarily affects Jewish people of Eastern European ancestry
  • Thalassemia, a group of blood disorders, mainly affects people of Mediterranean, African and Southern Asian descent
  • Cystic Fibrosis, a disorder of the lungs and digestive system, mainly affects Caucasians

What happens during a visit to a genetic counselor?

You will discuss background medical information about you and your partner. This may include information about your family history, your own medical history and any previous pregnancies. Before the meeting, prepare a health family tree going back three generations (or as far back as you can). You may also need to bring your medical records and photos of any members of your family with possible genetic disorders.

In some cases, the counselor may offer carrier testing, usually a blood test, to help determine if you or your partner “carries” any genes that increase the chances that you will have a child with a certain inherited disease or birth defect.

After you become pregnant, there will be further genetic tests you can take to determine if your fetus has a genetic disorder.

The cost of genetic counseling and testing can range from less than $100 to more than $2,000, depending on what tests are used. The average cost is between $175 and $300. Some health insurance plans cover these costs, especially if your doctor recommends it. You may want to call your health insurance company in advance to find out how much it will cover.

What if tests show that there is a risk that we might pass on an inherited disorder?

The genetic counselor should ask about your concerns and guide you toward information on specific birth defects that will help you make informed decisions. This is a totally personal choice. Preconception counseling enables you and your partner to educate yourselves about potential challenges and to talk through some difficult questions before a pregnancy is even part of the equation. Counseling can also help you and your partner prepare for any medical or social needs for your baby before she or he is born.