Application 1114
Urinary metabolic profile
Application No. | 1114 |
| Application Name | Urinary metabolic profile |
| Advisory Panel | Associate Professor John Atherton (Chair) (MSAC Member) Associate Professor Donald Perry-Keene (Deputy Chair) (MSAC Member until 30/06/07) Clinical Professor Bridget Wilcken (Human Genetics Society of Australasia nominee) Dr John Coakley (Royal College of Pathologists of Australasia) Mr John Harrison (Australian Institute of Medical Scientists nominee) Dr Walid Jammal (Royal Australian College of General Practitioners) Mr Brian Stafford (Consumers’ Health Forum of Australia nominee) |
| Date Received by MSAC Secretariat | 30 October 2006 |
| Stage 1 - Eligibility | Eligible |
| Stage 2 - Assessment | Completed |
| Stage 3 - Formulation of Advice to the Minister | MSAC has considered the strength of the evidence in relation to the safety, effectiveness and cost-effectiveness of urinary metabolic profiling compared with alternative investigations for the detection of metabolic disorders for the three following indications: 1. Asymptomatic newborns with a positive screening result suggestive of metabolic disorder. 2. Individuals with a clinical presentation suggestive of a metabolic disorder. 3. At-risk family members of patients with specific genetic metabolic disorder. The evidence was limited by three factors: - the rarity of the various metabolic disorders such that conventional high quality comparative diagnostic test studies are not possible - the large number of metabolic disorders that can be diagnosed by urinary metabolic profiling - that urinary metabolic profiling has been standard practice in Australia for many years. MSAC finds that urinary metabolic profiling is either as safe or safer than alternative investigations to diagnose metabolic disorders. MSAC finds that urinary metabolic profiling is effective in diagnosing metabolic disorders and is likely to be more effective than alternative investigations in allowing a timely diagnosis, especially in patients with undifferentiated presentations where a metabolic disorder is suspected or needs to be excluded. Given the lack of high quality comparative evidence of effectiveness, a cost-effectiveness analysis could not be conducted and a budget impact analysis was performed. Whilst it is likely that downstream costs incurred by alternative investigations or delayed diagnosis are avoided by the use of urinary metabolic profiling, these could not be formally costed. MSAC considers it is likely that urinary metabolic profiling in carefully selected patients is cost-effective. The current funding arrangements adequately capture the target population. MSAC advises that current public funding arrangements within the health care system should continue to be supported for this procedure. |
| Stage 4 - Decision Noting of MSAC advice by the Minister does not constitute a final decision in relation to the provision of public funding. | MSAC considered this assessment on 28 November 2008. The Minister noted MSAC's advice on 8 December 2008. |
| Stage 5 - Implementation |  |
Page currency, Latest update: 18 August, 2009
