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Genetic conditions are highly complex. Some can be managed without too much disruption to quality of life. But many conditions significantly affect families from the moment a child is diagnosed and continue throughout life. As a child transitions to adulthood, their condition often presents different challenges, which are not met by current services.

GenomeConnect is changing that. Our goal is to provide further education in genomics, create genomic transition clinics, and better manage patient’s genomic information. We have established a core team of clinical geneticists, genetic counsellors, genetic pathologists, biomedical scientists, health economists and education experts to manage this.


Research & Innovation
We are currently establishing and undertaking a clinico-economic evaluation of a new model of care. Our transitional genomics clinics will assist patients transitioning from paediatric to adult care via multidisciplinary clinics run across 2 LHDs. We will attempt to find a diagnosis and answer for these patients to not only assist in their treatment but additionally, provide the patient and their family with some peace of mind.  

We are also promoting PatientArchive – a clinical/genomic resource that can be referred to by genomic professionals across Australia. This is a flagship product of the Australian Genomics ID.

Group Training
We ran two clinical genomics training workshops at UNSW and NeuRA in February and September 2018. The workshops were well attended, attracting large crowds of clinicians and scientists. We now regularly run not only local but international clinical genomics courses to assist in the upskilling of clinicians in the genetics field. Maridulu Budyari Gumal also received international recognition of genomic education at the Genomic Training Course in Hong Kong in February 2019.

Individual Training
We have a heavy focus on trainee development and are further developing our clinical genetics traineeship program. This is now into its second year. We are also negotiating further training opportunities with UTS and student placements. As there is an increasing demand for genetic diagnosis for patients, the need for those trained in this field will also grow. We are attempting to address this need and provide more patients the answers they need to assist in their treatment and quality of life.


  • the embedding of genomic testing supported by Maridulu Budyari Gumal in a clinical setting
  • the identification of 6 novel intellectual disability and epilepsy genes
  • the identification of genomic methodologies and diagnostic systems to improve health care


Our team of clinicians, managers, health economists and health committee chairs hail from local health districts, universities, NeuRA and health economics. Many of our researchers also work as clinicians in local health districts, children’s hospitals, research institutes and learning disability services.

Outside our partner organisations, we collaborate with NSW Health Pathology, Australian Genomics ID Flagship, and the Ramaciotti Centre for Genomics at UNSW Sydney. We also work closely with the community, patients, consumers and families to co-design, conduct and deliver projects.

This cross-collaboration of skill-sets and insights gives us a 360-degree view into Genomics. It means we can approach the subject from a multitude of perspectives, combine our resources and ensure patients receive breakthrough treatments faster.

This is how we innovate. This is how we move genomic care into the future.


Translating Genomic Medicine into Clinical Care.

Research Education

Conducted and published innovative genomic research in 2018 and 2019 that will improve industry understanding of the following:

- Human genomic storage and interrogation
- Bioinformatic pipelines
- Neurocognitive and craniofacial disorders
- X-Linked Syndromes, cleft palates, adult-onset Ataxia and epileptic encephalopathy
- Mendelian disorders
- Intellectual disability

A strong training strategy

- Support changes at a system level via a nationwide genomics education strategy
- Largest trainers of precision medicine as a diagnostic tool in the country
- Providing medical and non-medical courses at university, that will lead to a larger workforce understanding genetics counselling

Take genomic care forward:

For more information on our work, contact Alyssa Wilson or Dr Carey-Anne Evans, Project Officer. 

A national effort to strengthen consumer and community involvement

SPHERE is co-leading a national collaborative effort with AHRA members to accelerate the implementation of best practice Consumer and Community Involvement (CCI) in Australia.

Learning, sharing and weaving

Understanding Aboriginal perspectives and cultural knowledge was the subject of this outstanding Applied Indigenous Research Methods workshop.

2023 Seed Funding Grant recipients announced

We are excited to announce the recipients of the 2023 SPHERE Seed Funding Grants.