Victoria’s Department of Health and Human Services (DHHS) funds public genetics services for the State. Five genetics services are located at Melbourne Genomics member sites: The Royal Melbourne Hospital, Monash Health, Austin Health, Peter MacCallum Cancer Centre and the Victorian Clinical Genetics Services (VCGS) at The Royal Children’s Hospital.

Clinical genetics services provide expert care in diagnosis, risk assessment, management and counselling support. The advent of genomic technologies – allowing healthcare professionals to examine an individual’s entire DNA (the genome) to inform patient care – are fundamentally changing practice in clinical genetics services.

Project description

Objective: to identify how genomics impacts the work of clinical genetics services – both in providing services to patients referred to clinics, and in supporting other medical specialties to embed genomics into clinical care.

Lead clinicians and senior genetic counsellors from the five clinical genetics services at Melbourne Genomics member sites participated in one-on-one interviews to gather data.

Two focus groups of the lead clinicians and senior genetic counsellors were then held to ensure analysis accurately and comprehensively reflected the services’ experience.

Lessons learnt

  • Genomics has changed the work of genetic services staff, with expansion of roles required and the potential for further expansion in the future. There are a number of contributors to this increase: the complexity of genomic sequencing tests means more clinician time is needed during the testing process; and the number of new patient referrals and appointments have increased, along with time spent with patients to explain testing.

  • More post-test support is needed for patients. Clinicians identified this as an area of unmet need due to increased volume and resource constraints.

  • Models of care are needed to support the use of genomics outside clinical genetics services. For example, clinics could move toward being specialty-led with genetics service input; genetic counsellors could be embedded within specialty-led teams.

  • In light of the Medicare item numbers for childhood syndromes1, further work will be required to determine how clinical genetics services can support appropriate test ordering and interpretation by paediatricians.

  • Equitable access to genomic testing for rural and regional patients needs to be supported, with development of local genomic expertise and exploration of co-funding models for testing with regional providers.

1 Genetic testing for childhood syndromes item numbers 73358, 73359, 73360, 73361, 73362 and 73363


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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

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