Certified genetic counselors provide information and support to families affected by or at risk of a genetic disorder. They help to identify families at possible risk of a genetic disorder, gather and analyze family history and inheritance patterns, calculate risks of recurrence and provide information about genetic testing and related procedures.
Different genetic tests available for family planning:
Preconception testing – Before you or your partner are pregnant, preconception genetic testing can tell if there is a higher chance for your pregnancy to be affected by an inherited condition. You may consider this because you are aware of an inherited condition in your family. This is often called carrier testing. It can identify a change in a gene that does not cause any health problems for you; you are simply ‘carrying’ the gene change. If you and your partner are each carriers of a change in the same gene, you would be more likely to have a child with an inherited condition. You may also ask about this because you are part of an ethnic group in which an inherited condition is more common. Some couples are offered carrier screening as a routine part of preconception care.
Preimplantation genetic testing – If you or your partner are using alternative reproductive technology (ART) to conceive a pregnancy, you may be offered this testing. It is also known as preimplantation genetic diagnosis (PGD). Shortly after the pregnancy is conceived, cells from the pregnancy are tested to determine if the conception has one or more specific inherited conditions.
Prenatal testing – If you or your partner are pregnant, you may use prenatal testing to help diagnose an inherited condition in the developing baby. Sometimes, you may be offered a screening test, which can’t diagnose a condition by itself. Screening tests will let you know whether there is a higher or lower chance that the baby will inherit one or more health conditions. You may then choose follow-up testing that is diagnostic to tell you for sure. You may also decide to have diagnostic testing without having a screening test.
Newborn screening – All newborn infants receive this type of genetic testing. Newborn screening is used to detect inherited conditions, many of which have early treatments available. This is done by a heel stick that collects a small blood sample. If you are the parent of a newborn, you will be informed if results suggest that your baby has an inherited condition. You may then be offered follow-up testing to be sure.
Certified genetic counselors can help families understand the significance of genetic disorders in the context of cultural, personal, and familial situations and provide supportive counseling services, serve as patient advocates, and refer individuals and families to other health professionals and community or state support services.
Do you believe you or someone in your family may be at risk of an inherited condition? A certified genetic counselor can offer professional guidance for genetic testing during your planning phase. Use our directory to find a CGC in your area.