Approximately 38% of the first degree relatives of people with glaucoma also have the disease or have suspicious signs of it, and require close monitoring, according to early findings from the Targeting at Risk Relatives of Glaucoma patients for Early Diagnosis and Treatment (TARRGET) 2020 study. The study, which is a partnership project between Glaucoma Australia and the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG), aims to implement and evaluate an innovative educational program directed at family members of people with advanced glaucoma, and to encourage regular eye health checks.
The importance of family history in risk assessment for glaucoma has been well documented and is an important message promoted by Glaucoma Australia. With a focus on early detection, the program is novel in providing personalised risk information for family members to take to an eye health practitioner for a glaucoma screening appointment. People who have received this information have an immediate relative with advanced glaucoma taking part in the ANZRAG.
preliminary results suggest approximately 38% of FDRs have the disease or have suspicious signs and require close monitoring
Family Tree forms, requesting contact details for first-degree relatives, were mailed to 1,919 advanced glaucoma cases in the ANZRAG. A total of 637 forms have been returned, providing names and contacts details for 1,922 first degree relatives, an average of three first degree relatives per advanced case. Details for an additional 311 first degree relatives have been provided directly to the ANZRAG resulting in a total of 2,233 first degree relatives with contact details. Although 101 index cases are now deceased, 27 of these had previously returned forms or forms were completed by family members.
A TARRGET information pack, comprising a letter, personalised flyer and a newly developed Glaucoma Australia brochure, has been mailed to 2,175 first degree relatives. Glaucoma Australia estimate that 2,093 first degree relatives have received personalised information about their risk so far.
To date, results have been received from 307 individuals indicating: 185 with no glaucoma, 51 glaucoma suspects, 11 ocular hypertension without glaucoma, and 54 with glaucoma.
Glaucoma Australia CEO Annie Gibbins said the results are positive. “Besides being wonderful that they found, diagnosed and can now treat 54 new patients, these preliminary results suggest approximately 38% of FDRs have the disease or have suspicious signs and require close monitoring. This fits with the TARRGET trail which suggested 23-56% of first degree relatives have glaucoma.”
Feedback of results continues to occur as Glaucoma Australia has follow up and reminder processes built into the study.
The TARRGET study continues to send Family Tree forms to all new, suitable advanced cases in the ANZRAG and to recruit their FDRs. Additional funding has recently been received from Glaucoma Australia, which aims to broaden the study to include non-advanced cases of glaucoma as index cases and also to recruit family members into the ANZRAG so that their genetic risk can be assessed with a blood or saliva sample. The TARRGET study will also investigate the possible role of Polygenic Risk Scores (PRS) in determining care and treatment of patients with a mutation in the Myocilin gene. To assist in investigations, Glaucoma Australia will recruit 1,000 controls without glaucoma and assess their PRS.
Currently, FDRs in the study are assisting with a survey to gauge the interest of unaffected individuals in genetic screening for glaucoma related genetic susceptibility, which will further assess the risk of developing the condition.
Funded by the National Health and Medical Research Council (NHMRC), the TARRGET study is a partnership project between Glaucoma Australia, Flinders University, the University of Western Australia/Lions Eye Institute, the University of Tasmania and Sydney Eye Hospital and WA Country Health Service (Department of Health WA).