Without standardised guidelines, inefficiencies arise in obtaining, handling, storage and processing of samples. In some cases this has a significant negative impact on the diagnostic process and patient welfare. New tests are incorporated into diagnostic panels through validation from publications, advice from researchers/experts in the field and the experience of others in the field. The aim is to ensure that all centres have sufficient knowledge, expertise and funding to match international standards. The introduction of new technologies, such as chip technology and next generation sequencing will significantly change the diagnostic landscape over the next decade. A web-based resource will be key to establishing a standardised approach.
Improvements in diagnostic capacity, collation of clinical and research data, centralised biospecimen repositories, and establishment of national disease registers therefore have the potential to improve patient outcomes, facilitate gene discovery/linkage studies, and identify patients suitable for specific clinical trials. An increasing number of clinical trials require accurate patient genetic information for eligibility into the trial – a coordinated diagnostic network linked to patient registries would make patients “trial ready”.
ANN aims to:
- Develop guidelines for the collection of clinical information and specimen collection and ensure that new published guidelines are made available to ensure consistent and coordinated uptake of new information. This also includes the development of standardised consent forms/information sheets for patient inclusion in research studies
- Address funding issues. The current funding model supporting diagnostic labs in each state will impede development of a national neuromuscular network. A central funding source of support for diagnostics of NMD is essential to avoid duplication of services, increase availability and cost-efficiency
- Develop a proposal for funding based on consensus of the best working model within the Australian environment. UK diagnostic data demonstrates cost-efficiency through avoidance of inappropriate testing. This can be incorporated into the proposal for funding. The network will work with patient advocate groups to lobby government
- Establish a model for improved coordination between research and diagnostic laboratories and translation from the research laboratory into diagnostics
- Develop guidelines for approach to diagnosis – what tests are available and where – and make centrally available via website.
- Address ethical issues and standardise consent and procedures for samples moving between diagnostic and research labs
If you have a query regarding diagnosis, please feel free to contact Prof Nigel Laing (Chair, Diagnostics Steering Group).