Genomics

Robyn Jamieson

Professor Robyn Jamieson leads the Genomics Cross Cutting Theme for Sydney Health Partners. Below she outlines what her team is hoping to achieve for people living with genetic disorders and diseases. Single gene disorders, like cystic fibrosis, retinitis pigmentosa and muscular dystrophy, affect approximately 300 million people worldwide, creating a huge social and economic burden. Professor Jamieson also discusses how their work can help to develop new opportunities for diagnoses and treatments for all patients in the health system.

What is the Genomics Theme trying to achieve?

Genomics is the study of genes and their function, and our goal is to realise the full potential of genomics and other ‘omic’ (such as proteomics and metabolomics) approaches to medicine across all of Sydney Health Partners’ organisations. This will drive the translation of research into new opportunities for diagnoses and treatments of patients; improving their health and the medical care they are provided.

There are recent technological advances in genetics, genomics and proteomic approaches that are revolutionising the face of medicine. As a consequence, in the near future all patients receiving medical care will benefit from genetic knowledge related to diagnosis, treatment and responses to treatment. This is because almost all human disease results from genetic and environmental interactions which will become better understood and managed as the relevant genes and their functions are identified. This creates a tremendous opportunity for new approaches to diagnoses and treatments across all areas of the health system.

To achieve this, there is a pressing need for an enhanced approach to genetics, genomics and related ‘omic’ research across several key areas of the University of Sydney, and Sydney Health Partners has a key role to play in this.

Who are you trying to help?

Our work aims to help patients with genetic factors contributing to their disease, including those with single and multigenic diseases. Single gene disorders, like cystic fibrosis, retinitis pigmentosa and muscular dystrophy, affect approximately 300 million people worldwide, and at least 90% are currently incurable, creating a huge social and economic burden.

Several of our researchers are caring for large patient cohorts in the Sydney area with genetic disease, including those in the areas of cardiac, ocular, renal, immunological, mitochondrial and neurological diseases, and we are focused on helping these patients. In addition, the genomic and genome engineering strategies undertaken through our Theme’s work are applicable to genetic factors contributing to multigenic and complex diseases such as heart disease, diabetes, and obesity, multiplying the impact of our work.

What projects are you working on?

We are working on projects in the following areas:

  • Harmonisation of approaches in human ethics applications in genomic research projects
  • Enhancing translation of research genomics to clinical diagnostic testing and answers for patients
  • Increasing capacity in interpretation of genomic variants across sub-speciality research areas
  • Improving transition of patients with genetic disease from paediatric to adult services
  • Harnessing strengths in functional genomics capabilities to facilitate therapies

How does being part of a collaborative partnership like Sydney Health Partners help you to achieve more than you would be able to individually?

Genomics, in all its facets, is a significant and recognised strength across Sydney Health Partners. The Partnership provides an opportunity for significant coordination of our strength in this area, as well as opportunities for scaling up. Key groups within Sydney Health Partners include those within the Sydney Medical School, including the Discipline of Genetic Medicine which encompasses the expertise of the University of Sydney’s Clinical Schools, as well as the local health districts and medical research institutes that make up the Partnership.

The speed with which genomics research moves from test tubes to people, and its application to large patient cohorts, is providing an unprecedented wealth of data for investigation of gene and biological function, with potential for development of new therapies in many diseases where no treatments were previously possible. Together through Sydney Health Partners we have the capacity to facilitate the goal towards new opportunities in medical care for patients with single and multifactor genetic contributions to disease.

What potential do you see for scaling up the results of your research? How can it reach more people in the health system?

There are tremendous opportunities for scale-up of the research and improvement of the reach of the genomics theme in three main ways:

  • Reaching more people in the health system, through increased applications in Clinical Translation: There is a need for increased integration of clinical genomics and genetics, and laboratory genomics and genetics to all areas of clinical medicine. This is about ensuring that the discoveries made in laboratories reach the patients in our hospitals and local general practices. This will directly facilitate the reach of genomics research to more people in the health system. Sydney Health Partners’ members are well-placed to lead in this area, given that many have appointments in the local health districts and honorary University appointments.
  • Reaching more people in the health system, through increased teaching in genomics for current and future health carers: The need for improved teaching in genomic medicine is across several areas including Specialists and General Practitioners; Specialty College and General Practice trainees; and students enrolled in the University of Sydney’s Sydney Medical School.
  • Scaling up of genomics research across the University of Sydney: There are leading researchers and teams across the University of Sydney in this area, providing the opportunity for scale-up from the Sydney Health Partners approach to a cross-University approach. The University is in an exceptional position to lead the delivery of the full power and benefit of genomic medicine. A cross-university thematic approach to research in genomics and its scientific, medical and societal elements, will provide a tremendous opportunity for leadership in the transformational era of genomic medicine.

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Page Last Updated: 05 July, 2017