Shreyasee has a baby with thalassemia major. Seeing her child having to undergo repeated transfusions, she and her husband want to know if they can have an unaffected baby. They want to understand the risk of having another baby with thalassemia major in the next pregnancy.

Susheela had a baby with cystic fibrosis. The child died at the age of five. She and her husband are worried. Will they have another baby with cystic fibrosis?

Shreyasee and Susheela both have had babies with a genetic disorder. They need to be seen by a genetic counsellor. In the 21^stcentury, there is more and more knowledge being uncovered about the genetics of common diseases and how these diseases run in families. If there is a genetic disorder in the family, a genetic counsellor helps you understand your risk of having a baby with that disorder. If a couple has already had a child with an inherited birth defect, genetic counsellors can help them understand what their chances are of having another baby with the same genetic disorder. They can also help them learn what testing, surveillance or prevention strategies are available.

Who is a genetic counsellor?

A genetic counsellor is a person who has studied genetic diseases and how these diseases run in families. The genetic counsellor can help a person and the family understand the risk for genetic conditions (such as cystic fibrosis, thalassemia, hemophilia, muscular dystrophy or Down syndrome), educate the person or family about that disease, and assess the risk of passing those diseases on to children.

A genetic counsellor may be a doctor who has specialised in genetic counselling or somebody who has studied genetics and has had training in counselling. They work with families to identify members who are at risk. They will discuss and counsel about the appropriate genetic testing, coordinate any testing, interpret test results, and review all additional testing, surveillance or surgical options that are available to members of the family.