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Speeding up support for neurologic patients

Dr Dhamidhu Eratne is a neuropsychiatrist involved in Melbourne Genomics’ project to investigate the benefits of genomic sequencing in the diagnosis and medical care of people with complex neurological and neurodegenerative diseases. This project is led by Professor Sam Berkovic from the University of Melbourne and Austin Health.

We asked Dhamidhu a few questions about the project and his work.

Can you tell us a bit about you?

I’m a neuropsychiatrist based at the Royal Melbourne Hospital. A large part of my work centres on the assessment, diagnosis, management, and research of biomarkers for early onset neurodegenerative diseases. I initially trained in New Zealand before moving to Melbourne to complete my registrar training.

What specific conditions is the neurologic project investigating, and why?

We’re studying a range of complex neurological and neurodegenerative conditions, such as ataxia, early-onset dementia, hereditary spastic paraplegia, early-onset Parkinson’s disease, dystonia, early-onset motor neurone disease, and undiagnosed multisystem disease.

Neurologic conditions result from the progressive loss of the structure or function of nerve cells in the brain. Sadly, these conditions are almost always incurable. Diagnosis can involve multiple, costly and invasive medical procedures, and typically takes at least three to five years.

Our project is investigating whether earlier diagnosis by genomic sequencing can circumvent the often protracted and difficult medical investigations needed. Earlier and more accurate diagnosis would reduce patient and family burden, and ensure that timely and effective services like mental health and disability support can be provided.

Which patients are involved?

Our patients are adolescents and adults with complex neurological, neurodegenerative, cognitive, neuropsychiatric and metabolic conditions that have a suspected genetic basis. Patients are recruited from across Victoria, through Austin Health, The Royal Melbourne Hospital, The Royal Children’s Hospital and Monash Health.

What is your role?

I co-ordinate the recruitment of patients to the project, and assist with patient reviews and the delivery of genomic sequencing results. I facilitate our multidisciplinary team of experts in neurology, genetics, genetic counselling, paediatrics, neuropsychiatry, bioinformatics and health economics from numerous sites. As one of the Royal Melbourne Hospital clinicians involved, I also have a direct role in the care of some of the recruited patients.

What excites you about this work?

There are many challenges faced by patients and families with complex neurological diseases. For example, there is often significant distress associated with diagnostic uncertainty and delay, and repeated costly and sometimes invasive investigations.

I’m excited about our project’s potential to address these challenges and, ultimately, to lead to real benefits for patients and their families.

What do you hope to achieve?

We hope this project will help answer many important questions about complex neurologic diseases, such as:

  • Does genomic sequencing lead to quicker, more accurate diagnosis?
  • Will genomic sequencing have an impact on patient care and psychological and social outcomes for patients and families?
  • Will early use of genomic sequencing provide benefits to the healthcare system?

We now know that many complex neurological and neurodegenerative conditions have a genetic cause, so we anticipate that genomic sequencing should provide a pathway to quicker, more accurate diagnosis, and better targeted care. Further, confirmation of a genetic cause may enable a patient’s relatives to be tested for the same condition – bringing additional knowledge and benefits to the family.