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Genetic counseling is a service to help individuals and families translate scientific knowledge into practical information. A genetic counselor works with a person or family that may be at risk for an inherited disease or abnormal pregnancy outcome, discussing their chances of having children who are affected.

Providers of genetic counseling include:

• Individuals who have followed a specific educational curriculum and who are certified genetic counselors (CGCs)
• Doctors or nurses with special training in the subject

These health care professionals are experienced in helping families understand birth defects and how inheritance works. They provide information that helps families make personal decisions about pregnancy, child care and genetic testing.

Is genetic counseling for you?
Anyone who has unanswered questions about origins of diseases or traits in the family should consider genetic counseling. People who may find it valuable include:

• Those who have, or are concerned that they might have, an inherited disorder or birth defect.
• Women who are pregnant or planning to be after age 35.
• Couples who already have a child with intellectual disabilities, an inherited disorder or a birth defect.
• Couples whose infant has a genetic disease diagnosed by routine newborn screening.
• Women who have had babies who died in infancy or three or more miscarriages.
• People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy.Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals or infections.
• Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.
• Couples who are first cousins or other close blood relatives.
• Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.

What happens at a genetic counseling appointment?
When you go to see a genetic counselor, he or she:

• Will record your family history (for instance, if your parents, grandparents or siblings had heart disease, diabetes, etc.) and your own medical background.
• May arrange appointments for blood tests, physical exams, or amniocentesis.
• Will try to put together a picture of how your family's health may affect your children.
• Will help you interpret medical information about any risks present and explain the role of genetics in these conditions.

Often genetic counselors can determine the risk of occurrence or recurrence of a condition and the availability of tests for it.

Evaluation of tests results usually is coordinated between the genetic counselor, the person or couple and the doctor. In the occasional case of troubling results, the counselor will provide information to help you make decisions (for instance, on the risk of having a child or more children). The counselor or the doctor can refer you to resources in your community that deal with a specific genetic condition, or to medical specialists, educational specialists or family support groups.

How to find a genetic counselor
A family can seek genetic counseling directly or be referred by a physician. Comprehensive genetic services centers are available in the United States, usually located within large medical centers or teaching hospitals. Smaller areas may be served by satellite clinics.

If you think you could benefit from genetic counseling:

• Call your local chapter of the March of Dimes for information on services in your area.
• Ask your physician or nearest hospital associated with a medical school.
• Contact the National Society of Genetic Counselors.

Genetic resources
There are many organizations that can provide you with guidance and information on a wide variety of topics related to genetics and specific inherited disorders. These are just a few:

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 997-4488
E-mail: askus@marchofdimes.com

Genetic Alliance
4301 Connecticut Avenue, N.W., Suite 404
Washington, DC 20008
(202) 966-5557
E-mail: info@geneticalliance.org

National Society of Genetic Counselors
401 N. Michigan Avenue
Chicago, IL 60611
(312) 321-6834
E-mail: nsgc@nsgc.org

National Center for Education on Maternal and Child Health
P.O. Box 571272
Washington, DC 20057
(202) 784-9770
E-mail: mchlibrary@ncemch.org

National Dissemination Center for Children with Disabilities
P.O. Box 1492
Washington, D.C. 20013
(800) 695-0285
E-mail: nichcy@aed.org

National Organization for Rare Disorders (NORD)
P.O. Box 1968
Danbury, CT 06813
(800) 999-6673
(203) 744-0100
E-mail: RN@rarediseases.org

August 2007