Victorian newborns will now be screened for an additional rare and serious genetic disorder free of charge.
Testing for galactosaemia will be included in Victoria’s newborn bloodspot screening program, run by the Victorian Clinical Genetics Services.
Commonly referred to as the ‘heel prick test’, the newborn bloodspot screening program is designed to help parents get their children early treatment for rare health conditions so they can live long, healthy lives.
This latest addition means the screening program now tests for 32 conditions and is offered to parents of all newborns within their first 72 hours of life.
Galactosaemia is a rare genetic condition that prevents the body from metabolising galactose, a type of sugar found in milk and other dairy products.
The most serious form of galactosaemia occurs in about one in 50,000 babies and can cause life-threatening liver disease, infections, and cataracts if not diagnosed soon after birth.
Through screening, affected babies will be detected and treated early to prevent these symptoms.
Treatment consists of restricting dietary galactose, including replacing dairy milk with lactose-free formulas.
The State Government also expanded the newborn bloodspot screening in 2024 and 2023, investing more than $1 million to add testing for spinal muscular atrophy, severe combined immunodeficiency, and congenital adrenal hyperplasia.
In 2024, more than 75,000 Victorian newborns were screened.
Newborn bloodspot screening began in Victoria in 1966. One in 1000 are found to have a rare but serious condition, such as congenital hypothyroidism and cystic fibrosis.
More information on the program is available at betterhealth.vic.gov.au.
