Cascade screening for glaucoma in high-risk family members of African-Caribbean glaucoma patients in an urban population in London

Abstract

Background/aimsCascade screening has been used successfully in relatives of patients with inherited cancers and other genetic diseases to identify presymptomatic disease. This study was designed to examine if this approach would be successful in a high-risk group: first-degree relatives (FDR) of African-Caribbean glaucoma patients resident in London.MethodsAfrican-Caribbean patients (probands) with glaucoma from an inner London hospital setting in a deprived area were asked to disseminate personalised information to their FDR over the age of 30 and to arrange a free hospital-based screening. Data collected, including optical coherence tomography imaging, were reviewed by a glaucoma specialist and if glaucoma was diagnosed or suspected, local specialist referral via family doctor was made.Results203 probands were recruited from glaucoma clinics. 248 suitable FDR were identified as potentially eligible to attend screening. 57 (23%) FDR made contact with the research team of whom 18 (7%) attended a subsequent screening visit. No patients were diagnosed with glaucoma; one participant was diagnosed as glaucoma suspect. Reasons for poor uptake included reluctance by probands to involve their family members, and retirees spending significant time abroad.ConclusionCascade screening of FDR of African-Caribbean glaucoma patients in inner city London was unsuccessful. Research confidentiality guidance prohibiting research teams directly contacting family members was a barrier. Greater community engagement, community-based screening and permission to contact FDR directly might have improved uptake.

Glaucoma Cascade Screening in a High Risk Afro-Caribbean Haitian Population: A Pilot Study

“…One singular study of high-risk family members of heterogeneous Afro-Caribbean glaucoma patients based in the United Kingdom identified 203 index patients with 248 eligible FDRs, 18 (7%) of whom completed cascade screening. The current pilot study, the largest of its kind to the authors’ knowledge, screened 33.8% of available FDRs, a nearly 5-fold increase in participation compared to the prior study 26. This increased yield may be related to our use of a dedicated cultural liaison and research coordinator to communicate with our exclusively Haitian patients, and to the availability of weekend screening clinics.…”

“…The current pilot study, the largest of its kind to the authors' knowledge, screened 33.8% of available FDRs, a nearly 5-fold increase in participation compared to the prior study. 26 This increased yield may be related to our use of a dedicated cultural liaison and research coordinator to communicate with our exclusively Haitian patients, and to the availability of weekend screening clinics.…”

Comparative Analysis of Glaucoma Screening Uptake Among First-Degree Relatives After Community-Based and Hospital-Based Approaches

“…The difference may be attributed to the age criteria for including FDRs in the studies. This study included FDRs aged 40 years and above, unlike those by Ogunleye 18 and Nagar, 21 which included FDRs aged 30 years and above.…”

Evaluating the effectiveness of cascade clinical screening for familial glaucoma in rural Western Australia

“…2 These findings mirror challenges faced by other glaucoma family screening programs, with significant variability in the effectiveness of identifying undiagnosed and suspect cases between programs. 4,5 For example, a study based in London had very poor participation rates, 5 while the Tasmanian study had high participation among index cases and first-degree relatives. 4 The success of the Tasmanian cascade screening projects may be due to the relatively small geographic area and a captive study population.…”