ArticleGenome medicine2022
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Article in Genome medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.Annals of neurology · 2024Pooled it
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology of Lung Cancer Consortium.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Article
- Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.NPJ genomic medicine · 2026Article
- A Framework to Quantify Disparities in Pharmacogenomic Treatment Concordance and Drug Response Outcomes.Clinical and translational science · 2026Article
- Comprehensive assessment of whole-genome sequencing-based variant calling pipelines in monozygotic twins.Briefings in bioinformatics · 2025Article
- Genetic underpinnings of the heterogeneous impact of obesity on lipid levels and cardiovascular disease.Genome medicine · 2025Article
- A Framework to Quantify Disparities in Pharmacogenomic Treatment Concordance and Drug Response Outcomes.medRxiv : the preprint server for health sciences · 2025Article
- Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.Nature communications · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Article
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 2025Article
- Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.Journal of human genetics · 2025Article
- Impact of population screening for Lynch syndrome insights from the All of Us data.Nature communications · 2025Article
- Informatics innovation to provide return of value to participant communities in the All of Us Research Program.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Equitable community-based participatory research engagement with communities of color drives All of Us Wisconsin genomic research priorities.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Rare Genetic Variants inCirculation · 2024Article
- Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.medRxiv : the preprint server for health sciences · 2024Article
- Inclusiveness of the All of Us Research Program improves polygenic risk scores and fosters genomic medicine for all.Communications medicine · 2024Article
Corrections and comments
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Authors and funding
22 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundThe All of Us Research Program (AoURP, "the program") is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of participants, a research resource is being created to enable a variety of future observational and interventional studies. The program has also committed to genomic data generation and returning important health-related information to participants.
methodsWhole-genome sequencing (WGS), variant calling processes, data interpretation, and return-of-results procedures had to be created and receive an Investigational Device Exemption (IDE) from the United States Food and Drug Administration (FDA). The performance of the entire workflow was assessed through the largest known cross-center, WGS-based, validation activity that was refined iteratively through interactions with the FDA over many months.
resultsThe accuracy and precision of the WGS process as a device for the return of certain health-related genomic results was determined to be sufficient, and an IDE was granted.
conclusionsWe present here both the process of navigating the IDE application process with the FDA and the results of the validation study as a guide to future projects which may need to follow a similar path. Changes to the program in the future will be covered in supplementary submissions to the IDE and will support additional variant classes, sample types, and any expansion to the reportable regions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.