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Sam Myers, Mark James Simcoe, Diana Kozareva, Christopher J Hammond; Cascade Screening Study of African-Caribbean patients with glaucoma. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1995.
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© ARVO (1962-2015); The Authors (2016-present)
Cascade screening describes the systematic process of screening close relatives of a patient with an inherited disease, extending genetic testing to identify those at risk or with the disease. Cascade screening has been successfully performed for glaucoma in Australian studies, given that a family history of glaucoma significantly increases the risk in first degree relatives to levels approaching the risk of inherited diseases. People of African-Caribbean heritage are at a much increased risk of glaucoma, so this study aimed to see whether cascade screening would be a useful tool in identifying people in this group at high risk.
200 patients of African-Caribbean origin (primarily from West Africa and the Caribbean) attending glaucoma clinics at St Thomas’ Hospital (South London) consented to participate in the study, mean age 65 years. They were each asked about first-degree family members resident in the United Kingdom, and given an information leaflet to give each relative, with information about glaucoma, and an invitation to contact the study team to attend a free glaucoma screening visit at a time convenient to them.
The 200 probands each identified an average of 2.3 family members who might be able to attend for screening. The study coordinator was allowed by the Research Ethics Committee (IRB) to contact each participant 3 times by telephone/email/letter to encourage them to ask their family members. Despite reminders to the probands, only 18 relatives attended for screening. Of these, none had glaucoma, and one was identified as a glaucoma suspect. Focus groups with participants suggested they felt their children were too busy, or did not want to trouble them, despite risks of glaucoma. Some reported their children had been tested elsewhere. Employing an African-Caribbean research assistant to help recruitment did not improve uptake.
Cascade screening in an inner urban UK black glaucoma population was unsuccessful in screening first degree relatives for glaucoma. Future initiatives would need improved engagement with the local community, and to consider whether an Ethics Committee would allow direct contact with relatives, rather than just probands.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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