With an emphasis on reaching historically underrepresented populations, the All of Us Research Program recruits adults aged 18 and above across the United States to share their health data to enable new insights into human health and research on precision medicine. Participants contribute electronic health records (EHR), survey responses, biospecimens, wearable devices (biometrics), and physical measurements.

The six All of Us surveys assess the areas listed below:

• Basic demographic information
• Lifestyle/substance use (i.e., tobacco, alcohol, and recreational drugs)
• Overall health (general health status, daily activities, and women’s health)
• Medical history (medical conditions and approximate age of diagnosis)
• Family medical history (medical history of immediate biological family members)
• Health care access and utilization (self-reported use of various health services)

There are currently three tiers of data access.

• Public Tier: Anonymized, aggregate data that can be viewed with the Data Browser.
• Registered Tier: Contains individual-level data and is available only to approved researchers on the Researcher Workbench. Authorized users also have access to tools such as the Cohort Builder, Jupyter Notebooks, and Dataset Builder.
• Controlled Tier: Includes genomic data in the form of whole genome sequencing and genotyping arrays, demographic data fields from EHRs and surveys that are suppressed in other tiers, and unshifted dates.

Portal stores health data from participants from across the United States. Provides interactive Data Browser where anyone can learn about the type and quantity of data that All of Us collects. Users can explore aggregate data including genomic variants, survey responses, physical measurements, electronic health record information, and wearables data.

All of us (AoU) cohort and NHIS participant characteristics.

To identify common factors associated with the loss of an eye using the NIH All of Us database. In this case-controlled study, we extracted electronic health record and socio-demographic data for 231 cases of eye loss from All of Us enrollment sites. Controls (N = 924) matched the demographic characteristics of the 2020 United States Census. Bivariate analyses and multivariable logistic regression identified variables significantly associated with increased odds of eye loss. Medical and social determinants associated with increased odds of losing an eye. Among cases, the average age (standard deviation) was 60.1 (14.4) years. The majority (125, 54.1%) were male. 87 (37.7%) identified as African American, and 49 (21.2%) identified as Hispanic or Latino. Loss of eye was more likely in those with ocular tumor (odds ratio [OR] 421.73, 25 95% confidence interval [CI] 129.81–1959.80, p < .001), trauma (OR 13.38, 95% CI 6.64–27.43, p < .001), infection (OR 11.46, 95% CI 4.11–32.26, p = .001) or glaucoma (OR 8.33, 95% CI 4.43– 15.81, p < .001). African American (OR 2.39, 95% CI 1.39–4.09, p = .002) and Hispanic or Latino (OR 1.80, 95% CI 1.01–3.15, p = .04) participants were disproportionately affected. Racial and ethnic disparities exist among those with loss of an eye from underlying conditions. Addressing health inequities may mitigate the risk of this morbid outcome.

Supplemental methods and results.

Additional file 2. Reportable region in bed format.

The relative distribution and prevalence of cancer cases by type in the All of Us Research Program from self-reported survey data and electronic medical record by race/ethnicity.

Supplementary Methods

Isoniazid is primarily metabolized by the arylamine N-acetyltransferase 2 (NAT2) enzyme. Single nucleotide polymorphisms (SNPs) in the NAT2 gene could classify an individual into three distinct phenotypes: rapid, intermediate and slow acetylators. NAT2 SNPs and the slow acetylator phenotype have been implicated as risk factors for the development of antitubercular drug-induced liver injury (AT-DILI) in several tuberculosis (TB) populations. We conducted a prospective observational study to characterize and compare the NAT2 SNPs, genotypes and phenotypes among patients with TB and AT-DILI from the Southern and Western regions of India. The NAT2 pharmacogenomic profile of patients from these regions was compared with the reports from several geographically diverse TB populations and participants of different genetic ancestries extracted from literature reviews and the ‘All of Us’ Research Program database, respectively. The TB patients of Southern and Western regions of India and several other geographically closer regions exhibited near similar NAT2 MAF characteristics. However significant heterogeneity in NAT2 SNPs was observed within and between countries among AT-DILI populations and the participants of different genetic ancestry from the ‘All of Us’ Research Program database. The MAF of the NAT2 SNPs rs1041983, rs1801280, rs1799929, rs1799930 and rs1208 of the TB patients from Southern and Western Indian Sites were in near range to that of the South Asian genetic ancestry of ‘All of Us’ Research Program database. About one-third of the total TB patients from the Southern and Western regions of India were NAT2 slow acetylators, among whom a relatively higher proportion experienced AT-DILI. Further studies exploring the risk of NAT2 SNPs in different AT-DILI patients with larger sample sizes and a population-specific approach are required to establish a policy for NAT2 genotyping as a pre-emptive biomarker for AT-DILI monitoring for personalized isoniazid therapy in clinics.

Prevalence and incidence of EHR-derived AF by age, sex, and race/ethnicity, All of Us Research Program, 2017–2019.

Time from diagnosis of cancer cases and approximate age at diagnosis by type in the All of Us Research Program.

Multivariable model for prevalent and incident AF (odds ratio or hazard ratio for covariates), All of Us Research Program 2017–2019.

Comparison of relative distribution and prevalence of cancer cases by type in the All of Us Research Program to SEER’s 26-year limited duration prevalence.

Participant characteristics by veteran status–All of Us research program (n = 254,079)a.