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New Medicare rebate for carrier screening will mean families do not have to go through losing a child to discover their risk of passing on a rare condition as a result of MSAC 1675
Patients who are suspected of having mitochondrial diseases can now access genomic testing covered by Medicare, following the approval of a submission co-led by the Macquarie University Centre for Economic Impacts of Genomic Medicine (GenIMPACT).
From 1 November, patients, their biological relatives and reproductive partners can use the Medicare-subsidised mitochondrial genomic tests to get a more definitive diagnosis earlier, allowing for better patient care and quality of life. It eliminates an often long and arduous diagnostic journey, and allows for more appropriate, accessible and targeted management, whilst informing reproductive planning. The new Medicare rebate for carrier screening will mean families do not have to go through losing a child to discover their risk of passing on a rare condition.
This milestone follows the Department of Health and Aged Care’s Medical Services Advisory Committee’s (MSAC) endorsement in February of an application for the approval of whole genome sequencing for use in diagnosing primary mitochondrial disease, which was prepared by, Mito Medical Network with GenIMPACT and NeuRA and Royal North Shore Hospital and The Children’s Hospital at Westmead.
The GenIMPACT team, headed by Professor Deborah Schofield, focuses primarily on the potential of genomics and similarly path-breaking new innovations that improve human health, where these advances have significant impacts on the economy and society.
GenIMPACT researchers present at 9th World Congress of IMA, Vienna
In early January 2024, researchers Dr Evelyn Lee and Adriana Castelo Taboada presented at the 9th World Congress of the International Microsimulation Association held in Vienna, Austria. Dr Evelyn Lee chaired two panel sessions and presented findings on the economic value of preconception carrier screening in Australia, followed by discussion on the status of carrier screening for genetic diseases in Europe.
Adriana Castelo Taboada chaired one panel session and shared recent findings on the effects of familial intellectual disability on Australian labour force participation and family income. This conference provided an opportunity to discuss different microsimulation methods and applications currently used by researchers and professionals around the world.
New research provides clearer view of retinal diseases costs
New research published in The Medical Journal of Australia by Macquarie University researchers and their collaborators finds that inherited retinal diseases (IRDs) cost the Australian economy $781 million to $1.56 billion annually. This finding could help policy makers secure funding for life-changing gene therapies for people living with IRDs.
Inherited retinal diseases are a broad group of genetic eye disorders characterised by retinal dysfunction and degeneration, often leading to progressive vision loss and blindness. These eye conditions affect about one in 1000 people and are now the leading cause of blindness in working age adults.
The new research puts the individual costs in plain sight, finding a lifetime cost of $5.2 million per person with an IRD, of which 87 per cent were societal costs such as National Disability Insurance Scheme (NDIS) support, income and welfare support, school adjustments, and supported independent living; and 13 per cent were health care costs which includes prescriptions, allied health services and inpatient care.
Professor Deborah Schofield, the Director of the Centre for Economic Impacts of Genomic Medicine (GenIMPACT) at Macquarie University, led the team of researchers from Macquarie Business School, with Professor Robyn Jamieson Head of the Eye Genetics Research Unit at the Children's Medical Research Institute at SCHN, Westmead, and Professor of Genomic Medicine at the University of Sydney and Professor John Grigg Head of Ophthalmology from the Save Sight Institute at the University of Sydney.
Deborah Schofield, Joshua Kraindler, Owen Tan, Rupendra N Shrestha, Sarah West, Natalie Hart, Liny Tan, Alan Ma, John R Grigg and Robyn V Jamieson (2023) The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study. Med J Aust online 19 June 2023 DOI: 10.5694/mja2.51997 PMID: 37301731.
Listen to a personal story as to why this research is important: SBS Podcast
Congratulations Deborah Schofield - 2023 Jim Piper Award finalist
Distinguished Professor Deborah Schofield, was nominated as a finalist for the Jim Piper Award for Excellence in Research Leadership presented at the 2023 Macquarie University Academic Awards on 15 November 2023.
Dr Tony Roscioli - Awarded 2023 NSW Health Pathology for Research Excellence for Novel Disease Gene Identification Program for Genetic Conditions
GenIMPACT were recognised as part of the team led by our esteemed colleague, Professor Tony Roscioli, who has been awarded a 2023 NSW Health Pathology for Research Excellence award for Novel Disease Gene Identification Program for Genetic Conditions: Every Child Deserves a Diagnosis. Congratulations Tony!
Researcher Owen Tan awarded PhD
Congratulations to colleague, Dr Owen Tan on being awarded his PhD. Owen's parents and young family, together with supervisors: Professor Deborah Schofield and Associate Professor Rupendra Shrestha, celebrated his graduation on 5 October 2023.