ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Application of Spatial Analysis on Electronic Health Records to Characterize Patient Phenotypes: Systematic Review.JMIR medical informatics · 2024Pooled it
- "It didn't feel like anything unusual because we had already been through so much": Disability-related research experiences of families with children enrolled in the undiagnosed diseases network.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Translating multi-omics into healthcare: requisites for scalable and equitable implementation.Human genomics · 2026Review
- Referral route: a determinant of inequity for children with undiagnosed genetic diseases?Frontiers in genetics · 2026Article
- Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA.Genome research · 2025Article
- Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.Nature communications · 2024Article
- Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.American journal of human genetics · 2024Review
- Downstream Exclusion in Rural Rare Disease Precision Medicine Research.The American journal of bioethics : AJOB · 2024Article
- Pangenome graphs improve the analysis of structural variants in rare genetic diseases.Nature communications · 2024Article
- Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.medRxiv : the preprint server for health sciences · 2024Article
- Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US.Prenatal diagnosis · 2023Article
- ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce.Frontiers in genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
purposePersistent inequities in genomic medicine and research contribute to health disparities. This analysis uses a context-specific and equity-focused strategy to evaluate enrollment patterns for Genomic Answers for Kids (GA4K), a large, metropolitan-wide genomic study on children.
methodsElectronic health records for 2247 GA4K study participants were used to evaluate the distribution of individuals by demographics (race, ethnicity, and payor type) and location (residential address). Addresses were geocoded to produce point density and 3-digit zip code maps showing local and regional enrollment patterns. Health system reports and census data were used to compare participant characteristics with reference populations at different spatial scales.
resultsRacial and ethnic minoritized and populations with low-income were underrepresented in the GA4K study cohort. Geographic variation demonstrates inequity in enrollment and participation among children from historically segregated and socially disadvantaged communities.
conclusionOur findings illustrate inequity in enrollment related to both GA4K study design and structural inequalities, which we suspect may exist for similar US-based studies. Our methods provide a scalable framework for continually evaluating and improving study design to ensure equitable participation in and benefits from genomic research and medicine. The use of high-resolution, place-based data represents a novel and practical means of identifying and characterizing inequities and targeting community engagement.
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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.