Genetic Counseling

Genetic counseling is a communication process of providing information and support to families, couples, or individuals that are in some way impacted by an inherited disease such as thalassemia. A genetic counselor often acts as a liaison for communicating complicated medical and genetic information. A non-directive approach can help counselees integrate this information into their own system of beliefs and values. In this way, counselees can make informed personal decisions about genetic testing, health care, and reproduction that make sense for them and their families.

Who gets genetic counseling?
People may receive genetic counseling for various reasons:

• Seng found out she had beta thalassemia trait after accepting free testing at an information booth at her local community health fair. She had taken some pamphlets about thalassemia at that time, but still had several questions about what this might mean for her and her relatives. She met with a genetic counselor to review her results and get her questions answered.

• Jon was diagnosed with hemoglobin H disease at age 3 when he became seriously anemic after eating fava beans for dinner at a relative's house. He was seen for genetic counseling at age 17, when his parents felt it was time for him to learn more about the inheritance of his disease and the possible risks to future children.

• Diep didn't know she had alpha thalassemia trait until her third pregnancy when routine bloodwork showed she was anemic. Follow-up bloodwork confirmed that both Diep and her husband had alpha thalassemia trait. They met with a genetic counselor to discuss the risk of alpha thalassemia major for her fetus and testing options to find out if the baby was affected. Diep also learned more about the risks to her own health, should she continue a pregnancy in which the baby was affected by alpha thalassemia major. She and her husband were able to receive support from the genetic counselor as they dealt with this unexpected information and decided what to do next.

• Marie was a 30 year-old with beta thalassemia major who decided to consult with a genetic counselor before trying to become pregnant. The counselor facilitated hemoglobin trait testing for Marie's husband and reviewed prenatal testing options with the couple. She also discussed the theoretical teratogenic risks of Marie's iron-chelating medications, as well as the importance of comprehensive care for Marie prior to and throughout her pregnancy. When Marie and her husband had difficulty conceiving, the genetic counselor provided information about adoption and available community resources for assisted reproductive technologies.