Frequently Asked Questions

What is a Genetics Consultation?
A genetics consultation involves evaluation of an individual or family for one or more of the following: Confirming, diagnosing or ruling out a genetic condition

■ Identifying medical management issues

■ Calculating and communicating genetic risks

■ Providing or arranging for psychosocial support
Who Should Have a Genetics Consultation?
Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation whether or not testing is available for that condition. Many people are seeking information and coping strategies as much as test results.

Reasons for referral for a genetics consultation are often grouped by age: Preconception/Prenatal, Pediatric, and Adult. Common reasons for referral are given below, but these lists are not exhaustive.

Consult your local genetics clinic to determine whether a genetics referral is appropriate.
Who provides genetic counseling?
Medical geneticists (je-NET-uh-sists) and genetic counselors are trained to help families understand genetic disorders. Medical geneticists usually are doctors. They perform physical exams when needed and also help educate patients about genetic disorders. Genetic counselors give information about risk factors and explain genetic tests that are available. Individuals or couples can use this information as they make decisions about becoming parents. For people who are concerned about their family history, genetic counselors can:

■ Provide complete and accurate information about a specific disorder

■ Determine a couple’s risk of having a child with a particular disorder

■ Provide information about tests that can tell if a baby has a disorder before he or she is born
Do genetic counselors do gene therapy or cloning?
Genetic counseling is a process in which a genetic counselor educates families or individuals about their risk of passing on a genetic predisposition for certain disorders to future generations or of having inherited a disorder, themselves. Gene therapy is the highly technical science of altering genes. For example, genetic technologies have recently led to a new treatment for cystic fibrosis using gene therapy. Genetic counselors may discuss gene therapy in specific disorders, but they are not the professionals who conduct research or carry out the process .
This is my first visit to a genetic counselor. What can I expect?
Genetic counselors frequently speak to clients about complex scientific and emotional topics. Usually the issues involve genetic conditions or birth defects or possibilities of those things occurring. The topic you bring to the genetic counseling session may determine the content of the discussion however you can expect the genetic counselor to have specialized knowledge and be able to answer your questions, maybe even to anticipate some of your questions. Often, the genetic counselor acts as an interpreter for the medical information and a support person if the information turns out to be stressful. Your genetic counselor may ask extensive questions about your family history, as this is the way we understand inheritance patterns. It might be helpful for you to use the opportunity of a pending genetic counseling visit to research the health and medical conditions of extended relatives.
It sounds complicated. How can I remember all the technical details?
Your genetic counselor usually has access to brochures, booklists and summaries about the technical information that was discussed at your session. You may get a written summary or this may be sent to your medical records. Confidentiality is a high priority for genetic counselors.

■ a genetic disorder (such as cystic fibrosis)

■ a birth defect (such as cleft lip)

■ a chromosome abnormality (such as Down’s syndrome)

■ mental retardation

■ have had repeated pregnancy losses (miscarriages or stillbirths)

■ are having difficulty becoming pregnant

■ have been exposed to anything that may have a harmful effect on an unborn child. The technical name for things that can harm an unborn child is teratogen (TER-ah-toe-jen). This includes:
◦x-rays
◦Radiation
◦some medicines
◦alcohol
◦street drugs
◦some infections

■ are age 35 or older

■ are of African American, Ashkenazic Jewish, or Mediterranean ancestry, or belong to another ethnic group with a high risk for certain genetic diseases

■ are interested in prenatal diagnosis

■ have been told your pregnancy may be at high risk for complications or birth defects based on results of an ultrasound (sonogram) or blood test

Who can benefit from a genetic counselor?
If you are pregnant or planning to become pregnant, you could benefit from genetic counseling if you have a family history of
Others who can benefit from genetic counseling include those who:
■ have a family history of cancer and wish to know their risk for developing cancer and ways to reduce this risk

■ have failed to develop adult sexual characteristics: for example, men who do not

■ develop facial hair or whose voices do not become deeper, and women who do not develop breasts or have menstrual periods