Brain health registry GenePool study: A novel approach to online genetics research

Abstract

Introduction Remote data collection, including the establishment of online registries, is a novel approach to efficiently identify risk for cognitive decline and Alzheimer's disease (AD) in older adults, with growing evidence for feasibility and validity. Addition of genetic data to online registries has the potential to facilitate identification of older adults at risk and to advance the understanding of genetic contributions to AD. Methods 573 older adult participants with longitudinal online Brain Health Registry (BHR) data underwent apolipoprotein E (APOE) genotyping using remotely collected saliva samples and a novel, automated Biofluid Collection Management Portal. We evaluated acceptability of genetic sample collection and estimated associations between (1) sociodemographic variables and willingness to participate in genetics research and (2) APOE results and online cognitive and functional assessments. We also assessed acceptance of hypothetical genetics research participation by surveying a larger sample of 25,888 BHR participants. Results 51% of invited participants enrolled in the BHR genetics study, BHR‐GenePool Study (BHR‐GPS); 27% of participants had at least one APOE ε4 allele. Older participants and those with higher educational attainment were more likely to participate. In the remotely administered Cogstate Brief Battery, APOE ε4/ε4 homozygotes (HM) had worse online learning scores, and greater decline in processing speed and attention, compared to ε3/ε4 heterozygotes (HT) and ε4 non‐carriers (NC). Discussion APOE genotyping of more than 500 older adults enrolled in BHR supports the feasibility and validity of a novel, remote biofluids collection approach from a large cohort of older adults, with data linkage to longitudinal online cognitive data. This approach can be expanded for efficient collection of genetic data and other information from biofluids in the future.

Remote blood collection from older adults in the Brain Health Registry for plasma biomarker and genetic analysis

“…The high completion rate supports the feasibility, while the positive experience feedback shows participant acceptability. This adds to emerging evidence for the feasibility of adding biofluids collection to online studies, as was previously shown with remote saliva collection for apolipoprotein E (APOE) genotyping in BHR 26 and the Banner Alzheimer's Prevention Registry GeneMatch study. 33 27 and in clinic settings.…”

“…Further, our efforts failed to engage older participants and those with SMCs (Table 2), which is in agreement with previous studies. 26,27 Therefore, future recruitment and engagement strategies should be developed to appeal to these groups.…”

“…Sample tracking and participant communication were automated using an adapted, expanded version of the BHR Biofluid Collection Management Portal, 26 which allows the study team to collect, store, maintain, and organize data related to remote blood and saliva collection. The application sent e‐mails automatically to provide participants with their unique codes and instructions on how to schedule an appointment, to alert participants when their sample was received by study staff, and to request a status update from participants if a sample was not collected after a specified time.…”

“…Logistic regression was used to test for associations between demographic variables and four levels of study involvement: response to invitation, indication of interest, enrollment, and blood draw completion. As SMCs have previously been found to be associated with higher registry participation 27 and willingness with to participate in genetic studies, 26 we tested the hypotheses that SMC would be associated with increased odds of interest in the study and increased rate of enrollment and completion. We also hypothesized that ethnocultural and educational URP status is associated with lower odds of study participation.…”

“…Sample tracking and participant communication were automated using an adapted, expanded version of the BHR Biofluid Collection Management Portal, 26 which allows the study team to collect, store, maintain, and organize data related to remote blood and saliva collection.…”