Provision of genetic research reports to research participants via their nominated ophthalmologists or clinical geneticists

Project Aims

The major aims of this project were to provide more than 200 genetic research reports to participants via their nominated ophthalmologists or clinical geneticists, and to enhance the knowledge of the genetic spectrum of inherited retinal disease (IRD) in Australia via publications.

Project Results and Impact

363 genetic research reports related to 323 participants were provided to nominated clinicians and genetic counsellors to assist with patient management, and to facilitate genetic counselling and family planning. This cohort included 185 IRD-affected participants, 6 asymptomatic individuals with familial mutations, and 132 unaffected family members (carriers and non-carriers of familial mutations).

These reports detailed the likely genetic cause of disease in participants with a diverse range of clinical diagnoses, caused by pathogenic DNA changes in 37different genes, and were issued on behalf of AIRDR participants to 29 different ophthalmologists throughout Australia. Of the 185 participants affected with an IRD, 133 participants had the likely cause of disease reported, and 52 participants were unresolved. Of the 52 unresolved participants, 10 are possibly resolved and awaiting further familial analysis to resolve these cases.

The genetic results identified in these reports have contributed to various publications enhancing knowledge of the genetic spectrum of IRDs in the Australian population, including the following genes: ABCA4(1-5), PRPF31(6-7) and PRPH2(8).

The results of this project have also contributed to the identification of potential candidates for clinical trials or future therapies arising from these trials (subject to specific exclusion/inclusion criteria imposed in the trials/treatments).

The provision of the genetic research reports undertaken in this project have contributed to patient management, including for genetic counselling (6 participants) and family planning (4 participants) purposes. These findings further informed scientific research into the genetic spectrum of IRD in Australia, facilitated investigation into personalised medicine therapies, and identified potential candidates for clinical trials or future therapies arising from these trials.

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