

Genetic Counseling

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Reasons for Genetic Counseling

There are many reasons that people go for genetic counseling, such as:

  • A family history of a genetic condition
  • To learn about genetic screening for diseases that are more common in certain ethnic groups (e.g., sickle cell disease in African Americans and Tay-Sachs disease in Ashkenazi Jews)
  • To discuss abnormal results from tests during pregnancy (such as a blood test, ultrasound, chorionic villus sampling (CVS), or amniocentesis)
  • To learn about the higher chance for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition
  • To learn about the effects of being exposed to x-rays, chemicals, illness, or prescribed or illicit drugs while pregnant
  • A woman has had several miscarriages or infant deaths
  • Trouble getting pregnant (infertility)
  • A genetic condition or birth defect occurred in a previous pregnancy
  • A child has birth defects, disabilities, or conditions found by newborn screening
  • To find out if there is a genetic cause for developmental delays or health problems
  • Steps to get ready for a healthy pregnancy and baby (such as screening for genetic conditions)

About Genetics Professionals

Clinical geneticists and genetic counselors often work together as part of a health care team. They diagnose and care for people with genetic conditions and give information and support to people with genetic conditions and their families.

Clinical Geneticists

Clinical geneticists are medical doctors with special training in genetics. In addition to educating families about genetic conditions, they perform clinical exams and order lab tests to diagnose the causes of birth defects and other genetic conditions. They can explain how a genetic condition may affect a person and give advice about treatment options and recurrence risks for future pregnancies.

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Genetic Counselors

Genetic counselors are professionals who have special training to help people and families cope with and understand genetic conditions. They are also trained to provide counseling and support for people and families with genetic conditions.

What Genetics Professionals Do

Some of the things a genetic counselor or clinical geneticist might do during a clinical visit include:

  • Ask questions about medical, family, and pregnancy history
  • Talk about birth defects and genetic conditions
  • Explain chances of a genetic condition occurring or recurring within the family
  • Discuss how genetic conditions are passed down in the family
  • Talk about illnesses and chemicals that can cause birth defects
  • Recommend and order tests that can help diagnose a condition, and explain test results
  • Discuss treatment options for a genetic condition
  • Help people deal with feelings about how genetic conditions affect their families
  • Answer medical questions and address emotional concerns
  • Explore reproductive options
  • Refer people to other resources for help

How to Find a Genetics Professional


Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers and includes an international directory of genetic testing laboratories.