The Melbourne Tay Sachs Screening Program

Austin Health

Austin Health is the major provider of tertiary health services in the northeast of Melbourne. It provides unique services for cancer, liver transplantation, spinal cord injuries and neurology. Its Clinical Genetic Service provides genetic diagnosis, counselling and support to families at risk of inherited conditions.

The Melbourne Tay Sachs Screening Program, supported by Gandel Foundation

Tay Sachs disease is a devastating genetic disorder most common amongst people of Ashkenazi Jewish ancestry. Affected children appear healthy for the first few months of life, but their development then begins to lag behind their peers. The children generally develop seizures and blindness, and most die before their fifth birthday. There are no treatments or cures.

Screening for Tay Sachs disease began overseas in the 1980s. It has resulted in the virtual elimination of the disease from the wider Jewish community. In Victoria, the Tay Sachs Disease and Related Conditions Screening Program was established in 1998. In 1999, charitable seed funding made screening free to students. Testing was changed from blood to a simple cheek-brush sample, and now more than 95{5751bc5b63690f6a3018c78004b9a8025eaa2eaac2b926a397aa26ea6af7f630} of students choose to have screening. The program was transferred to Austin Health in 2011 and today it provides education, screening and counselling services to the Victorian Jewish community.

In 2008, in line with international standards, screening for six other severe genetic conditions common to Ashkenazi Jewish people was incorporated into the program so couples can have screening for all those conditions. If both are carriers, they can take steps to prevent the birth of a child with one of these debilitating conditions. It is the only way to avoid the dreadful heartache of having to witness an afflicted child’s suffering.

“Those who have had contact with families caring for young children with a fatal condition will know the heartache that this program can help avoid.”

Professor Agnes Bankier, clinical geneticist, Austin Health

 Screening is also offered through biannual community screening days, and by obstetricians and general practitioners.

Austin Health is lobbying the Federal Government for a program for people with rare genetic disorders, part of which will include funding for this screening program. In the meantime, this crucial program continues to rely on the generosity of the Jewish community and philanthropic support, such as that of Gandel Foundation, for its survival.

Megan Cotter  Coordinator of the Tay Sachs Screening Program