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

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

doi:10.1016/j.tjpad.2025.100099

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

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

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	100099
Number of pages	1
Journal	Journal of Prevention of Alzheimer's Disease
Volume	12
Issue number	5
Early online date	24 Feb 2025
DOIs	https://doi.org/10.1016/j.tjpad.2025.100099
Publication status	Published - May 2025
Externally published	Yes

Access to Document

10.1016/j.tjpad.2025.100099Licence: CC BY

Cite this

Waterink, L., van der Lee, S. J., Nijland, D., van der Zee, F. I., Visser, L. N. C., Pijnenburg, Y. A. L., Sikkes, S. A. M., van der Flier, W. M., & Zwan, M. D. (2025). Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry). Journal of Prevention of Alzheimer's Disease, 12(5), Article 100099. https://doi.org/10.1016/j.tjpad.2025.100099

@article{1b20a84654384154a4645e4832c4d301,

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

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.",

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

year = "2025",

month = may,

doi = "10.1016/j.tjpad.2025.100099",

language = "English",

volume = "12",

number = "5",

}

Waterink, L, van der Lee, SJ, Nijland, D, van der Zee, FI, Visser, LNC, Pijnenburg, YAL, Sikkes, SAM, van der Flier, WM & Zwan, MD 2025, 'Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry)', Journal of Prevention of Alzheimer's Disease, vol. 12, no. 5, 100099. https://doi.org/10.1016/j.tjpad.2025.100099

TY - JOUR

T1 - Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry)

AU - Waterink, L

AU - van der Lee, S J

AU - Nijland, D

AU - van der Zee, F I

AU - Visser, L N C

AU - Pijnenburg, Y A L

AU - Sikkes, S A M

AU - van der Flier, W M

AU - Zwan, M D

PY - 2025/5

Y1 - 2025/5

N2 - 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.

AB - 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.

U2 - 10.1016/j.tjpad.2025.100099

DO - 10.1016/j.tjpad.2025.100099

M3 - Article

C2 - 40000321

SN - 2274-5807

VL - 12

JO - Journal of Prevention of Alzheimer's Disease

JF - Journal of Prevention of Alzheimer's Disease

IS - 5

M1 - 100099

ER -

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

Abstract

Access to Document

Fingerprint

Cite this