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Common Questions about Genetics and Genomic Medicine

Why do people usually visit a genetics clinic?

Doctors refer people to a genetics clinic for many reasons. Typically, your child's doctor will suggest this if he or she thinks that a medical condition may have an underlying genetic cause. It’s also possible that a genetic clinic visit may reveal information that will help your physician make a proper diagnosis.

What happens at a genetics clinic appointment?

Genetics clinics provide evaluation, information and testing for a variety of rare inherited conditions. Some of these conditions are very mild, while others cause serious medical problems. It is helpful, but not required, for both parents to come with a child who is referred for a genetic evaluation.

During a clinic visit, a genetic counselor may speak with you to take background medical information and a family history. If the visit was scheduled to check for a genetic condition, a geneticist (a doctor specially trained in genetics) will examine your child. The doctor and genetic counselor will talk with you about the exam and their recommendations. Testing is not always necessary to confirm a diagnosis, but blood or urine tests or X-rays may be recommended.

Who should consider counseling for family cancer syndromes?

Anyone who has concerns regarding their personal risk of developing cancer is welcome to contact us. Families are more likely to be at risk for certain cancers if several family members have had early onset cancer (occurring younger than age 45).

For more information, contact the familial cancer risk assessment program at Vanderbilt at (615) 322-2064.

How can I arrange for paternity testing?

We do not perform this testing. It is available at private labs.

Paternity testing can be done during pregnancy as well as after delivery. Blood samples from both the mother and possible father are required to compare with a blood or other genetic sample from the baby.

What does an abnormal result on a newborn screening test mean?

All babies born in the U.S. are screened for several rare genetic conditions. If a child has an “abnormal” newborn screening result, he or she needs to be retested as soon as possible. If the result is still abnormal, the baby will be referred to the nearest genetics clinic for more accurate testing. Many babies with abnormal results do not have a genetic condition. Those who have such a condition are started on appropriate therapy immediately.

Does a child always inherit a genetic condition from one or both parents?

Not necessarily. Some genetic conditions are inherited (passed down) from both parents, while others are inherited from either the mother or the father. Sometimes genetic conditions are caused by a new change in genetic material and therefore are not inherited.

If one person in a family has a genetic condition, will all siblings be affected?

Usually siblings are not all affected. The chance for brothers or sisters to have a condition varies depending on the condition. The chance may be less than 1 percent or as high as 100 percent depending on the diagnosis.

Can genetic conditions be diagnosed before birth?

Some conditions can be diagnosed prenatally at 10 to 12 weeks’ gestation using the chorionic villi sampling procedure, or at 15 to 18 weeks using the amniocentesis procedure. Contact your obstetrician or a genetic center if you would like more information about testing for a specific condition.

Can an adopted child be tested to rule out potentially harmful genetic conditions?

There is no test that can check for all genetic conditions. Any family history that is available can be helpful as well as an examination by a geneticist to determine if testing would be helpful.