What is genetic screening for Canavan disease?
Canavan disease occurs with greater frequency in people of Eastern European (Ashkenazi) Jewish descent. If both parents have a nonfunctioning copy of ASPA gene, there is a 25% for each pregnancy that a child with have Canavan disease. Doctors strongly recommend that people of Ashkenazi Jewish heritage undergo carrier screening for Canavan disease. This involves a simple blood test to detect one of the two alterations in the ASPS gene that cause Canavan disease in this particular population.
Carrier screening is usually done through a doctor’s office or a hospital-based medical genetics program. The results generally take about 2 weeks. However, advances in technology are making such testing more accessible to families. JScreen is a program managed by the Emory School of Medicine’s Department of Human Genetics, provides at-home genetic screening and private counseling for Jewish people to determine their risk.
Carrier screening is most effective before beginning to start a family. Family planning is an important step for people at risk for having a child with a genetic disorder. A consultation with a genetic counselor is important to learn potential risk to the child and reproductive options for the couple. Support groups like the Canavan Foundation provide information on options for carrier couples.