The current local landscape

There is currently no standardised over-arching national approach to diagnosis of neuromuscular disorders. Most pathology services are funded by health departments with no coordination from state to state. For some states there is also no coordination between local area health services.

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.

One issue currently facing diagnostic laboratories is funding. For example, the Perth laboratory led by Mark Davis and Nigel Laing has not received an increase in funding for consumables for over 10 years. The service is sustained through generation of revenue from requests external to W.A. Similarly, the Neuropathology Laboratory in Melbourne has had no increase in budget for several years.  Research-based diagnostic testing is not NATA accredited and therefore cannot be funded through charges for external diagnostic services. In addition, results generated by research laboratories need to be replicated in NATA accredited labs before they can be used for diagnosis of other family members and for prenatal diagnosis.

Diagnostic testing has been developed within a number of Australasian research laboratories based on individual interests. While this has significantly improved the diagnosis for a number of individual conditions – usually free of charge – this decentralised and non-systematic approach to testing is not sustainable in the long-term, and is not best practice to ensure the optimal  health outcomes for patients on a national scale. There is a need to develop guidelines for the translation of established diagnostic tests from research laboratories to accredited diagnostic laboratories for incorporation into a validated panel of tests. This will also generate a revenue stream from patients to fund diagnostic laboratories. Research laboratories should, with informed patient consent, retain access to specimens and tissue from undiagnosed patients or subjects with conditions of interest to that laboratory. However the diagnostic services provided by research laboratories are vulnerable to changing research priorities. An integrated network linking research and diagnostic laboratories would promote the continuous and rapid translation of new tests to standardised diagnostic protocols.

An overseas model

The UK government provides £600,000 pa to support the diagnosis of Limb Girdle Muscular Dystrophy (LGMD) alone, through the UK nationwide neuromuscular diagnostic network established under National Commissioning Group funding. The diagnosis of congenital muscular dystrophies (CMD) is funded to a similar level.

The UK model includes standardised questionnaires and forms to be completed and sent with the samples, the flow of samples for testing is based on the information submitted and is sent to the appropriate lab (based on panel of tests/sequencing etc required).

TREAT-NMD has gathered a vast amount of data over the last 10 years related to diagnostics and this information will be very useful to prepare a proposal to the Australian federal government for funding.

The future

A network would provide an opportunity to establish guidelines for specimen collection, handling, processing and testing, and to develop standardised forms for data collection. A coordinated national network would also provide an opportunity to engage/lobby government groups.

There are also vast biospecimen collections within Australia – while these collections would continue to be housed locally and maintained by local research/clinical groups, de-identified information relating to specimen banks may be more accessible to research groups if made available through a web-based databank.  Catriona McLean and Katie Bushby described the Australian Brain Bank and the Euro BioBank experiences respectively, as examples of banks where protocols are in place for groups to apply to access patient tissue. Such models could be easily adapted to the neuromuscular network. EuroBioBank is also open to applications for membership from biobanks outside Europe. There is a similar opportunity for the Australian banks to become part of  existing international networks, some of which already have a searchable online catalogue to which all participating banks’ samples are added.

Forthcoming improvements in genetic diagnostic techniques, such as the advent of chip technology (NMD-Chip is being developed in association with TREAT-NMD) may enable high through-put screening of all neuromuscular genes, including candidate genes for a range of conditions including DMD, the CMDs, the LGMDs and the inherited myopathies and neuropathies.

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”.


  1. 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
  2. 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
  3. 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
  4. Establish a model for improved coordination between research and diagnostic laboratories and translation from the research laboratory into diagnostics
  5. Develop guidelines for approach to diagnosis – what tests are available and where – and make centrally available via website.
  6. Address ethical issues and standardise consent and procedures for samples moving between diagnostic and research labs