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What Is Genetic Counseling?
Genetic counseling is a way for people to understand how genetic illnesses can affect them and their family. Genetic illnesses (also called genetic disorders) are caused by changes in genes.
Why Would Someone See a Genetic Counselor?
People might see a genetic counselor for many reasons. Someone with a higher risk of having a child with a genetic illness might get genetic counseling. This includes:
- People who have close relatives with genetic illnesses.
- Parents who already have a child with a genetic illness.
- Pregnant women over age 34 or those who have an abnormal prenatal screening test or amniocentesis.
- Women who have had two or more miscarriages, or delivered a stillborn baby that had physical signs of a genetic disorder.
Someone also might see a genetic counselor to:
- Get testing for themselves, a child, or an unborn baby.
- Learn if they carry a gene for a genetic illness.
- See how likely they are to pass a genetic illness to their child.
- Guide treatment plans for some types of illnesses (for example, to see if a medicine will work better than another).
What Happens in Genetic Counseling?
Genetic counseling starts with a meeting with a genetic counselor. The counselor, who has special training in genetics and counseling, will:
- ask about medical history, such as illnesses that run in the family, miscarriages, stillborn babies, or unexplained deaths
- look at medical records
- look at any testing that has been done, such as ultrasounds or prenatal tests
After the counselor has the medical information they need, they will:
- recommend genetic tests
- look at the results of tests
- explain how gene changes can cause genetic illnesses
- talk about how likely it is that a genetic illness will be passed to a child
- talk about options on what to do next
- provide support and resources
What Are the Options After Genetic Counseling?
A genetic counselor provides support while people decide what is right for them. The counselor doesn’t tell anyone what to do. Some people don’t make any changes or do any more testing based on genetic counseling.
Options Before Pregnancy
After genetic counseling, people thinking about getting pregnant might consider:
- a pre-implantation diagnosis. This is when eggs that were fertilized in a lab (not in the womb) are tested very early for genetic illnesses. Only fertilized eggs without the illnesses are used to create a pregnancy.
- using donor sperm or donor eggs
Options During Pregnancy
After genetic counseling, someone who is already pregnant might decide to:
- have the baby
- undergo surgery while the baby is still in the womb
- end the pregnancy
People at high risk for a particular genetic illness might be able to make changes that can help. For example, someone with a high risk for a type of cancer could get more frequent screening tests.
What Else Should I Know?
Genetic testing results aren’t always completely clear. Sometimes, having a genetic change doesn’t mean that a person will definitely have a genetic illness. Also, the same genetic change might cause mild illness in one person but a more severe illness in another.
Working with a genetic counselor can help people get important information about genetic illnesses. The counselor is there to give support while people make their own decisions. They understand that what's right for one person or family may not be right for another.
If you need a genetic counselor, talk to your health care provider or check online at National Society of Genetic Counselors. You also can find more information online at: