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087 An integrated neurogenomics clinic – 28-months experience and outcome of a tertiary referral centre
  1. Alison McLean1,2,
  2. Michel Tchan3,4,
  3. Sophie Devery1,
  4. Renee Smyth1,
  5. Kishore Kumar1,5,6,
  6. Susan Tomlinson1,4,7,
  7. Stephen Tisch1,7,2 and
  8. Kathy Wu1,2,4,7
  1. 1St Vincent’s Hospital, Sydney, Darlinghurst, NSW, Australia
  2. 2Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia
  3. 3Westmead Hospital, Sydney, NSW, Australia
  4. 4The University of Sydney, Sydney, NSW, Australia
  5. 5The Garvan Institute of Medical Research, Sydney, NSW, Australia
  6. 6Molecular Medicine in Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia
  7. 7School of Medicine, University of Notre Dame, Sydney, NSW, Australia


Objectives To retrospectively review attendance and outcomes of a single centre, integrated multi-disciplinary (MDT) neurogenomics clinic at St Vincent’s Hospital, Sydney.

Methods An audit of patients who attended the neurogenomics clinic was conducted over a 28-month period from 2017 to 2020. The clinic comprises of neurologists, clinical geneticists and genetic counsellors assessing each of the patients concurrently during the consultation.

Results In the audit period 99 patients were referred spanning 45 different clinical diagnoses. Following MDT assessment, 23% (23/99) of referring diagnoses were revised. Seventy-nine patients (80%) underwent genetic testing. The type of genetic tests ordered includes 41 exome-based panels, 14 whole genome sequencing, 13 single gene tests, 30 repeat expansion disorders and 2 chromosomal microarrays. Molecular confirmation was achieved in 22 patients following testing a yield of 28% (22/79); of which, 2% had their clinical diagnosis revised following testing. Overall, a diagnosis was achieved in 29/99 patients (29%), of whom 7 patients‘ diagnosis was achieved without genetic testing. From referral to the results of genetic testing, 25% (25/99) of patients had their diagnosis revised as a result of MDT input.

Conclusions Provision of an integrated multidisciplinary neurogenomics clinic in a tertiary setting provides an invaluable service with a diagnostic yield of 28%. This model provides a gold standard for diagnostic evaluation of patients with suspected neurogenetic disorders. Psychosocial benefits for patients, such as convenience/satisfaction of an MDT clinic, psychological closure for patients/families, and reproductive options enabled by achieving a genetic diagnosis, will be audited via patient survey.

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