Public Summary Document Application No. 1449 Genetic testing for Alport syndrome – Applicant: The University of Melbourne Department of Medicine Date of MSAC consideration: MSAC 72nd Meeting, 28-29 March 2018 Context for decision: MSAC makes its advice in accordance with its Terms of Reference, Purpose of application An application requesting Medicare Benefits Schedule (MBS) listing of genetic testing for the diagnosis of Alport syndrome (AS) was received by the Department of Health from the Department of Medicine in the University of Melbourne. The proposed medical service is a genetic test for heritable mutations in clinically affected individuals and, when appropriate, in family members of those individuals who test positive for one or more relevant mutations. advice to the Minister MSAC’s After considering the strength of the available evidence in relation to comparative safety, clinical effectiveness and cost effectiveness, MSAC supported MBS funding of genetic testing for the diagnosis of AS in clinically affected individuals and cascade testing for selected family members of these individuals who are genetically confirmed to have Alport syndrome (probands). MSAC advised that, while the evidence base for genetic testing was limited, there was acceptable evidence of clinical safety and effectiveness, and the financial impact of funding was likely to be low in the context of this rare disease with a well-characterised phenotype and low risk of leakage. MSAC also noted that genetic testing is accepted as the reference standard for diagnosis of AS and recognised that there was a clinical need for genetic testing to reduce the need for renal biopsy, to provide prognostic information on the expected course of the disease, and to inform family planning decisions, including from cascade testing of relatives of probands. MSAC recommended that the fee for the testing of affected individuals and the fee for cascade testing should each be consistent with those for similar genetic tests for breast and ovarian cancer (MBS items 73296 and 73297 characterisation of germline gene mutations – of the and genes and one or more genes). MSAC advised that all three BRCA1 BRCA2 related genes would need to be sequenced at the same time by the MBS-funded test of affected individuals. MSAC recommended a review of the MBS items in two years to assess uptake and ensure that the proposed fees continue to reflect the actual costs of providing the services.
Public Summary Document Application No. 1449 – Genetic testing for Alport syndrome Applicant: The University of Melbourne Department of Medicine Date of MSAC consideration: MSAC 72nd Meeting, 28-29 March 2018 Context for decision: MSAC makes its advice in accordance with its Terms of Reference, Purpose of application An application requesting Medicare Benefits Schedule (MBS) listing of genetic testing for the diagnosis of Alport syndrome (AS) was received by the Department of Health from the Department of Medicine in the University of Melbourne. The proposed medical service is a genetic test for heritable mutations in clinically affected individuals and, when appropriate, in family members of those individuals who test positive for one or more relevant mutations. MSAC’s advice to the Minister After considering the strength of the available evidence in relation to comparative safety, clinical effectiveness and cost effectiveness, MSAC supported MBS funding of genetic testing for the diagnosis of AS in clinically affected individuals and cascade testing for selected family members of these individuals who are genetically confirmed to have Alport syndrome (probands). MSAC advised that, while the evidence base for genetic testing was limited, there was acceptable evidence of clinical safety and effectiveness, and the financial impact of funding was likely to be low in the context of this rare disease with a well-characterised phenotype and low risk of leakage. MSAC also noted that genetic testing is accepted as the reference standard for diagnosis of AS and recognised that there was a clinical need for genetic testing to reduce the need for renal biopsy, to provide prognostic information on the expected course of the disease, and to inform family planning decisions, including from cascade testing of relatives of probands. MSAC recommended that the fee for the testing of affected individuals and the fee for cascade testing should each be consistent with those for similar genetic tests for breast and ovarian cancer (MBS items 73296 and 73297 – characterisation of germline gene mutations of the BRCA1 and BRCA2 genes and one or more genes). MSAC advised that all three genes would need to be sequenced at the same time by the MBS-funded test of affected individuals. MSAC recommended a review of the MBS items in two years to assess uptake and ensure that the proposed fees continue to reflect the actual costs of providing the services. related