Genetic Counseling & Testing



What is a genetic counselor?

Why would I see a genetic counselor?

What inherited conditions suggest a consultation with a genetic counselor?

What inherited diseases are most common in certain ethnic groups?

What happens during a visit to a genetic counselor?

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

Where can I find a genetic counselor?




What is a genetic counselor?

A genetic counselor is a health professional specially trained to understand and interpret your genetic information and the likely genetic consequences of a pregnancy between you and your partner. Genetic counselors can help you determine if you want to pursue any genetic testing, screening, or preventative measures. A genetic counselor can help you examine and make decisions about genetic factors that might place you at higher risk for having a baby with hereditary diseases or birth defects. Genetic counselors also provide emotional support and can refer you and your family to community or state support services, if needed.

Medical conditions that occur or have occurred at some time in your family can be passed on through you. Talking with a genetic counselor is often the first step toward understanding and dealing with your inherited risks.  Getting this information while you are planning to get pregnant can help you prepare and make informed decisions throughout your pregnancy.

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
  • belong to certain ethnic groups that have a higher than usual incidence of a particular genetic disease
  • have had 3 or more miscarriages or a baby who died in infancy
  • already have a child with mental retardation, an inherited disorder, or a birth defect
  • are over 35
  • are concerned that your lifestyle, job, or environment may pose a risk to pregnancy

What inherited conditions suggest a consultation with a genetic counselor?

You might want to talk to a genetic counselor if any of the following conditions are present on either side of your families:

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)
Mental Retardation (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* 

** Autosomal dominant inherited pattern- only one parent has to carry the gene; the parent usually has the disease, and each child has a 50:50 chance of inheriting it

*Autosomal recessive diseases- diseases that both parents carry in their genetic make-up; 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% 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, a blood disorder that mainly affects people of African descent
Tay-Sachs Disease, a central nervous system disease that primarily affects Jewish people of Eastern European ancestry
Thalassemia, a group of blood disorders that mainly affect people of Mediterranean, African, and Southern Asian descent
Cystic Fibrosis, a disorder of the lungs and digestive system that mainly affects Caucasians

What happens during a visit to a genetic counselor?

Typically, when you go to see 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, you can help by preparing a health family tree going back three generations.  You may also be asked to bring your medical records as well as 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 has 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 under $100 to over $2,000, depending on what tests are required, but average between $175 and $300.  Some health insurance plans cover these costs, especially if your doctor recommends it. 

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. Counseling enables you and your partner to educate yourselves about potential challenges and to talk through some difficult questions before a baby 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 it is born.

Where can I find a genetic counselor?

Many large medical centers offer genetic counseling. Your primary health care provider can probably refer you to one. Also, this website resources to help you find a genetic counselor. Many genetic counselors become certified by the American Board of Genetic Counseling as a way to attest to their acquired knowledge and skills.

What effect will all this new genetic research have on my pregnancy?

The field of human genetics has seen enormous breakthroughs recently. In coming years, gene therapy -- the manipulation of genes to fight or prevent diseases -- will undoubtedly have a significant impact on the incidence (new cases) and prevalence (total cases) of genetic diseases and birth defects. The treatment or elimination of inherited diseases or birth defects could one day become a reality, but right now the field is still young. 


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Childbirth Connection is a national not-for-profit organization founded in 1918 as Maternity Center Association. Our mission is to improve the quality of maternity care through research, education, advocacy and policy. Childbirth Connection promotes safe, effective and satisfying evidence-based maternity care and is a voice for the needs and interests of childbearing families.
Most recent page update: 10/26/2012