Genetic testing’s rapid advancement

What is available for HSP in Australia


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Technology used for next-generation sequencing (NGS) of DNA has rapidly developed over the past five years so that the cost and time it takes to read an individual’s DNA is getting lower and lower. Consequently, new genome technologies like NGS are steadily being adopted for use in the diagnosis of genetic disorders such as HSP.


Complex questions on issues such as data sharing and informed consent are constantly being addressed due to the confidential nature of personal data produced by such technologies and the demands for using such data for research and related purposes. The challenge is how to harness the potential of these technologies for health care while respecting fundamental ethical and regulatory frameworks.

To ensure that the expectations and needs of society, and in particular those with genetic conditions, are met in the broad implementation of these technologies, relevant stakeholders (patient representatives, genomics researchers, clinical geneticist, bioinformaticians, policy makers, ethics experts etc.) need to be engaged in this dialogue and subsequently produce recommendations that achieve widespread acceptance.


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Three HSP genetic testing services are available in Australia.

Two are located in Sydney and the third in Perth. Neurologists and geneticists no matter where they are located can use the service of choice for HSP patients. They, along with genetic counsellors, will talk with you about their preferred service and what that means for you in terms of the tests that will be conducted and costs, if any, associated with that.


Molecular Medicine Laboratory, Concord, Sydney

The MolMed lab at Concord Hospital in Sydney was the first in Australia to offer genetic testing for HSP. The current service offered includes 51 HSP genes MolMedHSPgenelist (.pdf file). Here is the process: 

  1. Patients can visit their neurologist to discuss and request genetic testing, or the neurologist might suggest it. A lot of information is required for the Request Form MolMed EXOME FORMS (.pdf file) to guide and assist testing. A neurologist or clinical geneticist is ideal for requesting genetic testing.
  2. The genetic testing process in the lab starts with the Request Form that has been completed by a combination of the patient’s medical professionals and the patient or guardian themselves.
  3. The initial testing task is to screen the 51 HSP genes using next-generation exome sequencing.
  4. If no mutation is found, there is a search for mutations in a wider range of selected genes.
  5. All the patient data can be stored and as new HSP genes are identified, there is the capability to come back and check the new genes for the patient. Newly discovered genes are added to the gene panel systematically.
  6. There are plans to start using whole genome next generation sequencing technology in future. This will be where no mutation is identified in the initial exome screen, then searching the whole genome for potential candidate genes will be carried out.
  7. This is a diagnostic service where a mutation, if identified, will be confirmed. Results are provided to the referring medical professional.
  8. Traditional Sanger sequencing/copy number variation testing for the three major HSP genes, that is Spastin, Atlastin and REEP1, is still available.
  9. Screening for known genes e.g. for other family members when one member has a known mutation, is another service that is offered.

The cost for the testing is currently $1,800 for the 51 gene panel and $2,400 for the ‘whole exome plus’ panel.

The timeline for testing and providing results is around 6 months.

Some public hospitals will pay for the service. Patients need to find out options and requirements with their hospital to determine the situation regarding costs.

Genetic Testing Process


HSP clinic, Royal North Shore Hospital, Sydney

The HSP clinic at Royal North Shore hospital in Sydney, headed up by Dr Carolyn Sue, diagnoses and reviews the status of people with suspected or confirmed HSP. Genetic testing is then decided on a case-by-case basis and individually tailored to the clinical scenario and clinical features observed. The genetic testing service offered currently is being further developed and includes the latest next generation technologies and methodologies.


PathWest Neurogenetics Laboratory, QEII Medical Centre, Nedlands, Perth

The PathWest neurogenetics lab in WA has both next-generation and traditional sequencing technologies to test 70 HSP genes PathWestHSPgenelist (Excel spreadsheet). Full details of the PathWest service will be reported in the Summer edition of the website in early December 2015.



  1. I feel sorry for these people with HSP. The United States needs to get on the ball like Australia in this research.

    1. Editor’s Note: Our sister organisation in the US, the SP Foundation is involved in the Australian research currently underway, as a matching funding partner with us. They conduct the world’s largest HSP research program, funding HSP and PLS research studies in several countries, overseen by their multinational Scientific Advisory Board.

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