Translating Research Outcomes Into Practice

The discovery of eye-related disease causing genes and better understanding of our molecular and cell biology is just part of the overarching theme of the ToGER CRE. The work we conduct crosses the boundaries of clinical and basic research, extending from the laboratory to the patient and their families. Given the health implications for family members related to individuals with genetic eye disease, education and counselling are important components in the effective management of these disorders. Regular screening of at-risk individuals enables disease to be detected and where possible, treatment commenced earlier, preventing blindness in some cases. Knowledge of disease risk also empowers couples with information when considering whether to have children; if genetic testing is available for a disease, the determination of carrier status may reveal the likelihood of a child being affected. For genetic eye disease that is not inherited, counselling is important in reassuring parents about recurrence risks.

The ToGER CRE aims to increase the availability of genetic tests for eye diseases, particularly in Australia where many tests are not currently available. Part of our work will be to develop a business plan to explore funding options for these services (including Medicare) so that genetic testing will be accessible, inexpensive and rapid for at-risk individuals. Currently, many genetic tests are processed overseas at significant cost and delay (months) to the patient.

There are several other ways in which we plan to address our broader objective of translating research outcomes into practice. We intend to establish an authoritative online resource for genetic eye disease. As the internet has become increasingly significant in our daily lives, many people use it as their basic source of information. However, poor quality and even misinformation is not uncommon. An accurate, curated internet resource detailing information about relevant diseases, research, current and emerging treatments, rehabilitation services and support groups will be invaluable to patients everywhere. We will also continue our research in telemedicine models of service delivery for patients with genetic eye disease. Real-time video conferencing systems have been shown to be effective alternative means for the provision of education and counselling to patients in rural and remote areas.