Patient groups will welcome the federal government's announcement of the first National Strategic Action Plan for Rare Diseases in the hope it will lead to earlier screening and access to treatment.
Australia does not currently even screen newborns for many rare genetic disorders.
Health minister Greg Hunt yesterday announced $3.3 million to support the Action Plan, including $1 million over three years for Rare Voices Australia to support its work as the peak patient body.
The organisation had received $170,000 to develop the Action Plan - a process Mr Hunt said was underpinned by consultation with stakeholders and people living with rare diseases.
"The Action Plan will increase awareness and promote earlier, more accurate diagnosis and treatment for around two million Australians suffering from rare diseases," said Minister Hunt, who added there are more than 7,000 currently known rare diseases.
"Approximately 80 per cent of rare diseases are of genetic origin. Others include rare cancers, infections and autoimmune disorders," he said.
The Action Plan is based on three pillars, including awareness and education; care and support; and, research and data.
Minister Hunt said each pillar prioritises a range of issues, including detection and screening.
Currently, newborns in Australia are not screened for a range of genetic lysosomal storage diseases for which there are funded treatments, including Gaucher and Pompe disease, as well as genetic disorders like Spinal Muscular Atrophy.
The federal government's Standing Committee on Screening recently rejected an application for the addition to newborn bloodspot screening of a test for Pompe disease.
Very few tests have been added to the newborn bloodsport screening program in recent decades despite the development and reimbursement of new treatments.