What is genetic counseling?Genetic counseling is a service to provide information about a genetic condition or the risk of a genetic condition. Genetic counseling is designed to assist individuals and families in making informed decisions about genetic testing and/or identify options for identifying managing, or participating in research about genetic conditions.
What is a genetic counselor?Genetic counselors are health care professionals with specialized degrees and experience in medical genetics and counseling. They work as members of a health care team providing information and support to families who may be at risk for a variety of inherited conditions or who have member with birth defects or genetic conditions. A genetic counselor is familiar with genetic conditions, how they are inherited, what genetic tests are available, and how genetic testing could affect individuals and/or families. Genetic counselors are nationally certified through the American Board of Genetic Counseling (ABGC; www.abgc.net). In some states, licensing of genetic counselors is also available.
What happens during a genetic counseling appointment?During a genetic counseling appointment, the individual and the genetic counselor will discuss any concerns that they have about genetic conditions. This includes concerns about the risk for genetic conditions in themselves, their pregnancies, their children, or other family members. In order to best address these concerns, the genetic counselor will ask specific questions about an individual’s medical and family history. The genetic counselor can then determine the risk for occurrence or recurrence of a condition, provide the individual with further information about this condition, and, if testing is available, review the benefits and limitations of this testing. (The decision about whether to proceed with any test you discuss will be yours to make. If you decide that you want to have genetic testing, then the genetic counselor can assist you with obtaining the test.) If a specific diagnosis has already been made, then information about and support for that condition will be discussed as well. If research studies or clinical trials for a genetic condition are available, the genetic counselor can provide contact information.
Who should consider genetic counseling?Any person concerns about one or more of the following topics may want to meet with a genetic counselor:
Pregnancy-related issues, such as age of 35 years or older at delivery, exposures during pregnancy (including medications, infections, illicit substances, radiation, chemicals), the risk of passing on a genetic condition or birth defect, a risk identified during a pregnancy by prenatal testing or ultrasound, a history of multiple miscarriages, or testing options available for a risk identified during a previous pregnancy.
Diagnosed genetic conditions or birth defects in an individual or a family member, whether identified in your baby by newborn screening, in your child by a pediatrician, in your relative by his or her own medical provider, or in yourself at any age. Screening for conditions that occur more frequently in certain ethnic groups, such as Tay-Sachs disease, cystic fibrosis, sickle cell disease, and thalassemia.
The risk for a medical or genetic condition when there has not been a diagnosis made, such as individuals who have received a risk analysis from a company that provides services directly to consumers.
The risks for the children of couples who are close blood relatives.
Family and/or personal history of cancer that may increase the risk to have an inherited predisposition to a hereditary cancer syndrome.
Complex diseases such as cancer or heart conditions, in yourself or a close relative.
What should I bring to a genetic counseling session?If you are currently pregnant, please bring the results of any tests performed during the pregnancy. (This may be provided by your referring doctor).
The result of any genetic analysis, physical evaluation, or imaging scan (MRI, CT scan, ultrasound, echocardiogram) that resulted in your referral to the genetic counselor.
Your medical history, including the name of your condition and the age at which you were diagnosed. Previous medical records are helpful, but not necessary.
Your family history, including the names of any medical and genetic conditions in your relatives, the age at which these conditions were diagnosed, and the age at which your relatives passed away, if this information is available.