Tosca is currently studying Journalism, and Media Arts & Production at the University of Technology Sydney. She is interested in filmmaking and social media.
A national solution to improve Australia's newborn screening program is currently being drafted.
With Australia's program testing for only half as many conditions as the U.S., treatable diseases are going undetected, resulting in lifelong disabilities and premature death.
Gidon Goodman, 15, was three years-old when diagnosed with Gaucher disease, a rare, inherited genetic disorder.
Doctors said that if his disease had gone undetected he would have developed a permanent disability.
Gidon said, “Kids are unnecessarily suffering or dying.”
“I think that every baby like me deserves a chance at life,” he said.
Gidon recently met with the NSW Minister for Health, Brad Hazzard, and a group of experts in the newborn screening field to discuss upcoming changes to Australia’s program.
“I'm just hoping that some more tests can be added, that more conditions can be screened so that detection can come earlier and people will have better health outcomes,” Gidon said,
Dr James Pitt, Head of Newborn and Metabolic Screening Laboratories at the Victorian Clinical Genetics Services (VCGS), said a newborn dried blood spot screening national policy framework had been developed over several years.
“The framework just requires endorsement at a federal level. We are expecting this to happen any week now,” he said.
Newborn bloodspot screening is funded entirely by individual states and territories, setting it apart from other national screening programs.
These programs differ in terms of the disorders screened, how and when new disorders get added, program reporting statistics, and program policies.
Dr Veronica Wiley, Associate Clinical Professor and ASIEM Representative of the Human Genetic Society Australia’s (HGSA) Newborn Screening Committee, said, “What this is is a procedure to ensure equity whether you’re born in Broome, or you’re born in Alice Springs, or whether you’re born in Sydney or wherever else you’re born.”
“It should actually be a very good thing for Australia,” she said.
The expected outcome is a process for adding or removing conditions from the screening panel, as well as the formation of a Newborn Screening National Program Management Committee.
Dr Janice Fletcher, Clinical Director of Genetics and Molecular Pathology and SA Representative of HGSA’s Newborn Screening Committee, said, “Once agreement for adding a condition is reached, it will be up to the states to fund the program. This includes the cost of laboratory testing, counselling families whose children screen positive, and follow up including any treatments.”
For Gidon, he hopes that Australia’s newborn screening will continue to see improvements so that children like him are able to lead normal lives, free from disease.