# Linking Direct to Consumer Genomics and Electronic Health Records to Accelerate Science

> **NIH NIH R21** · WASHINGTON UNIVERSITY · 2021 · $236,250

## Abstract

Abstract
Very large sample sizes are needed in genetic studies of complex traits and medical illnesses, and collecting
such samples is expensive and time intensive. To accelerate complex genetic discovery and translation, it is
critical to harness existing data quickly and efficiently. The goal of our proposal is to implement a novel and
scalable online/mobile recruitment paradigm to harness the vast amount of genomic data generated through
direct-to-consumer testing and to link these data to a research data warehouse containing electronic health
record (EHR) information from the BJC Healthcare System. We will accomplish our goal in three aims: 1)
Finalize online/mobile tools for recruiting consumer genomics customers who also are patients from the BJC
Healthcare system. We have designed an online/mobile approach that enables participants to provide us with
informed consent, their individual-level 23andMe genome-wide genotypes, and the key information required to
link their genomic data to their research based EHR data. 2) Recruit a cohort of 23andMe customers who are
also patients from the BJC Healthcare system to build a database linking their genotypes and EHR. We aim to
recruit 10,000 participants by year 2, based on the size of the 23andMe sampling base, the size of the BJC
Healthcare population, and the eligible participants we have already identified. 3) Building on our previous
work, we will evaluate the performance of polygenic risk scores (PRS) for substance use phenotypes to predict
health outcomes such as heart disease, COPD, lung cancer, and related traits. These analyses will be a proof
of principle to test of the value of this database. Our electronic recruitment strategy can be easily adapted to
recruitment for a variety of studies, and we will share our recruitment tools and details of our repository
infrastructure with research institutions through the network developed as part of NIH Clinical and Translational
Sciences Awards.
It is critical that moving forward we make more efficient use of research resources, focusing on establishing
data resources that can be used repeatedly in the future as opposed to recruiting participants to answer a
single research question. By integrating online recruitment, existing genomic data, and research based
electronic health records in a novel approach, our recruitment paradigm can rapidly attain the large cohorts
needed for complex disease genetics research in a cost-effective manner. This approach will enable
researchers to effectively target emerging health trends and research needs quickly and efficiently, and this
approach complements the large-scale efforts underway such as All of Us.

## Key facts

- **NIH application ID:** 10195133
- **Project number:** 1R21DA053424-01
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Laura J. Bierut
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $236,250
- **Award type:** 1
- **Project period:** 2021-09-15 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10195133

## Citation

> US National Institutes of Health, RePORTER application 10195133, Linking Direct to Consumer Genomics and Electronic Health Records to Accelerate Science (1R21DA053424-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10195133. Licensed CC0.

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