People living with rare and serious disorders should have access to genetic testing to improve medical care early in life, health experts say.
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About one in 25,000 Australians live with a condition that impacts the immune system's ability to fight off infections and diseases, known as primary immunodeficiencies.
They are hard to treat, can lead to serious health concerns and many patients experience severe symptoms that impact day-to-day life.
Currently, children with cancer can access detailed genetic testing which has led to better treatment early on.
A similar program should be set up for people with primary immunodeficiencies, says the peak body for immunology and allergy professionals, along with patient support organisations and other leading groups.
Pediatric clinical immunology and allergy specialist Melanie Wong said access to genomic testing is currently not equitable across Australia.
"Many people are not receiving the potentially life-saving care and treatment they need," Dr Wong said.
"It is truly devastating to lose patients, especially young ones, due to delayed diagnosis or the inability to control severe infections."
She called on federal, state and territory governments to establish a jointly funded national genomics testing program as recommended by a parliamentary inquiry.
Immune Deficiencies Foundation Australia chief executive Carolyn Dews said living with the conditions can be difficult as patients frequently go to hospital and many have limited social interaction.
"This often leads to social isolation and mental health issues. Access to genomic testing will provide people with a chance to live a productive life free from the constraints of their illness," Ms Dews said.
Australian Associated Press
