Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry).

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The Journal of Prevention of Alzheimer's Disease Pub Date : 2025-05-01 Epub Date: 2025-02-24 DOI:10.1016/j.tjpad.2025.100099

L Waterink, S J van der Lee, D Nijland, F I van der Zee, L N C Visser, Y A L Pijnenburg, S A M Sikkes, W M van der Flier, M D Zwan

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引用次数: 0

Abstract

Background: Participant recruitment for preclinical Alzheimer's disease (AD) prevention studies is challenging. Online registries facilitate large scale prescreening of individuals at risk for AD to accelerate recruitment. APOE-prescreening has the potential to better identify at-risk individuals. This study investigated the feasibility and acceptability of at-home APOE-genotyping in cognitively-normal registrants of an online registry.

Methods: We invited 9,287 cognitively-normal registrants of Dutch Brain Research Registry (DBRR) aged 50 to 75 for at-home APOE-genotype testing, without receiving the results. Feasibility was measured by participation ratio (participation/interested), swab-return ratio (returned-swabs/participation), and genotyping-success ratio (analyzed swabs/returned swabs). Acceptability was measured with online questions about information provision and project scope. We explored prescreening questions potentially reducing screen-failures.

Results: Feasibility was high with an 0.89 participation ratio (2,886/3,251), 0.90 swab-return ratio (2,886/2,597), 0.99 genotyping-success ratio (2,558/2,597). Acceptability was high, as participants were content with the information provision (87 %-97 %, n= 1,709-1,894), which was also well understood (91 %-93 %, n = 1,772-1,802). Among successful-analyzed swabs (n = 2,558), 27 % participants were APOE-ε4 heterozygote (n = 703), and 2 % homozygote (n = 60). Prescreening on a positive family history leads to a third reduction in the number of invitations needed to identify one APOE-ε4 carrier.

Conclusion: Our results suggest that APOE-ɛ4 genotyping in participants of an online research registry is feasible, well received and could be used to prescreen individuals at risk for AD for prevention studies. Adding a positive family history before invitation for APOE-genotyping, would further improve the prescreening process and reduce screen failures when identifying carriers.

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远程apoe基因分型在在线招募注册（荷兰脑研究注册）研究志愿者中的可行性和可接受性。

背景：临床前阿尔茨海默病（AD）预防研究的参与者招募具有挑战性。网上登记有助于对有阿尔茨海默病风险的个人进行大规模预筛选，以加快招募。apoe预筛查有可能更好地识别高危人群。本研究调查了认知正常的在线注册者在家中进行apoe基因分型的可行性和可接受性。方法：我们邀请9,287名认知正常的荷兰脑研究登记处（DBRR）注册者，年龄在50至75岁之间，在家中进行apoe基因型检测，但没有收到结果。通过参与率（参与/感兴趣）、拭子-返回比（返回-拭子/参与）和基因型-成功率（分析拭子/返回拭子）来衡量可行性。可接受性是通过关于信息提供和项目范围的在线问题来衡量的。我们探讨了可能减少筛选失败的预筛选问题。结果：可行性高，参与率0.89(2,886/3,251)，拭子返回率0.90(2,886/2,597)，基因型成功率0.99（2,558/2,597）。可接受性高，因为参与者对提供的信息感到满意（87 %-97 %,n= 1,709-1,894），这也是很好的理解（91 %-93 %,n= 1,772-1,802）。在成功分析的拭子中（n = 2558）， 27 %的参与者为APOE-ε4杂合子（n = 703）， 2 %的参与者为纯合子（n = 60）。对阳性家族史进行预筛选，可使鉴定APOE-ε4携带者所需的邀请次数减少三分之一。结论：我们的研究结果表明，对在线研究注册的参与者进行APOE- 4基因分型是可行的，并且被广泛接受，可以用于预先筛选AD风险个体进行预防研究。在邀请患者进行apoe基因分型前加入阳性家族史，将进一步改善筛查过程，减少筛查失败。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

The Journal of Prevention of Alzheimer's Disease Medicine-Psychiatry and Mental Health

CiteScore

9.20

自引率

0.00%

发文量

期刊介绍： The JPAD Journal of Prevention of Alzheimer’Disease will publish reviews, original research articles and short reports to improve our knowledge in the field of Alzheimer prevention including: neurosciences, biomarkers, imaging, epidemiology, public health, physical cognitive exercise, nutrition, risk and protective factors, drug development, trials design, and heath economic outcomes.JPAD will publish also the meeting abstracts from Clinical Trial on Alzheimer Disease (CTAD) and will be distributed both in paper and online version worldwide.We hope that JPAD with your contribution will play a role in the development of Alzheimer prevention.