56: Population Cascade Genetic Screening for Glaucoma

Pilot Study in the Efficiacy of Population Cascade Genetic Screening for Glaucoma ($18,200)

This grant was awarded to Dr. David Mackay, one of the world’s leading Glaucoma authorities.

Glaucoma is the second leading cause of blindness and visual impairment in Australia. Early diagnosis and treatment prevents blindness. 50% of people with Glaucoma are asymptomatic. Moreover, 50% of people with Glaucoma have a positive family history. The greatest challenge in preventing Glaucoma blindness is identifying the at-risk individuals, thereby facilitating early diagnosis and treatment.

Currently clinical screening for Glaucoma is haphazard, with markedly differing recommendations on frequency and depth of examination. A more focused screening strategy based on examination of first degree relatives of Glaucoma cases is proposed. The identification of Glaucoma genes in an index case allows predictive DNA testinig for their relatives, thus identifying those at high risk of disease development (the process of Cascade Genetic Screening).

The project will investigate the efficacy of Cascade Genetic Screening to identify currenly undiagnosed Glaucoma in the population. This study addresses the following:

Is family-based screening better than current adhoc strategies?
Is the Cascade Genetic Screening better than adhoc strategies?
What are the participation rates, benefits and costs of such screening strategies?

This study will involve a cohort of 100 Glaucoma cases and actively recruit their first degree relatives to identify new Glaucoma cases from clinical screening and through DNA testing.