Key Takeaways: Patients are increasingly learning Alzheimer’s disease (AD) genetic and biomarker results via electronic health records, without traditional genetic counseling or clinician communication. Evaluation of alternative scalable delivery models for return of AD risk information is needed to best support patient understanding and psychological well-being.

Introduction:

- In the United States (US), the 21st Century Cures Act mandates the immediate return of most medical tests, including AD genetic and biomarker results.

- Although prior studies demonstrate that return of APOE genotype and brain amyloid  neuroimaging results is generally safe & well-tolerated, these studies all used clinician-mediated disclosure.

- It remains unknown whether return of results via digital platforms, such as one that could be integrated into an electronic health record (EHR), is comparable to a clinician-mediated telehealth session.

Methods:

- eSMARTER was a decentralized and fully remote randomized, non-inferiority trial comparing returning APOE genotype results via digital platform or clinician-mediated telehealth session (NCT06459583).

- Participants were offered optional plasma pTau-217 disclosure 6mo after learning APOE results.

- Key outcomes were changes in measures of anxiety, disease-specific distress, and AD-related knowledge following disclosure.

- Participants age 60-80 were recruited from GeneMatch, a trial-independent research enrollment program.

Conclusions:

- eSMARTER results support the comparability of self-mediated digital platforms and clinician- telehealth sessions.

- Digital platforms offer a scalable approach to address the growing need for return of AD genetic and biomarker results to patients at elevated risk for AD dementia.

- This represents a growing area for development of patient-centric, AI systems to return results prior to a clinician visit. 

- Future studies should compare return of results via digital platforms vs. EHR portal.