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.
Activity
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.
Translation
- 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
Team
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.
