Race, Genetics, and Society

Large language model-based bibliometric evaluation of population descriptors in human genetics

This study evaluates adherence to NASEM recommendations on population descriptors in GWAS papers using a large language model-based toolkit, finding improvements over time but limited impact post-report publication.

Recommendations for the ethical and accurate use of population descriptors: a trainee-led survey of early-career researchers

This paper surveys early-career researchers on their understanding and implementation of ethical guidelines for population descriptors in genomics, highlighting misconceptions and structural barriers.

Development and assessment of tailored illustrations to enhance community understandings of genetics topics

The paper develops and evaluates tailored illustrations to improve community understanding of genetics concepts through iterative feedback and analysis of engagement patterns.

Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder Views

This study evaluates genetic ancestry report concordance across providers, compares ancestry to self-identified race/ethnicity, and explores perspectives on integrating ancestry data into EHRs.

Peripheral Blood Nascent RNA Sequencing Captures Ancestry-Linked Differential Gene Expression

This study uses nascent RNA sequencing to infer genetic ancestry and shows ancestry-based stratification improves detection of transcriptional differences compared to self-identified race.

Dynamic clustering of genomics cohorts beyond race, ethnicity--and ancestry

The paper introduces a dynamic clustering approach for genomics cohorts based on trait-specific genomic signals, revealing patterns beyond predefined racial or continental categories.

Subcontinental Genetic Diversity in the All of Us Research Program: Implications for Biomedical Research

The paper analyzes genetic diversity in the All of Us Research Program, showing that self-identified race and ethnicity groups exhibit continuous genetic variation rather than discrete clusters, with implications for genetic association studies.

The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort

The paper analyzes genomic data from a diverse cohort to highlight genetic diversity and disparities in disease prevalence linked to ancestry and environment.

Public RNA-seq data are not representative of global human diversity

The paper analyzes RNA-seq data from public databases and finds significant underrepresentation of non-European populations, highlighting biases in population descriptors.

Between-group heritability and the status of hereditarianism as an evolutionary science

The paper examines the relationship between between-group and within-group heritability in hereditarianism, showing its lack of evolutionary content and mathematical flaws.

FairPRS: a fairness framework for Polygenic Risk Scores

This paper introduces FairPRS, a method to create polygenic risk scores that are fair across ethnic groups by using invariant risk minimization, showing improved phenotype prediction and reduced racial bias.

Clinical genetics laboratories use divergent demographic frameworks across countries: comparing data structures for race, ethnicity, and ancestry on test requisition forms

This study compares how clinical genetics labs in different countries represent race, ethnicity, and ancestry on test requisition forms, finding significant differences in data collection practices.

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines

This study analyzes genetic ancestry in 93,419 individuals to show that ethnicity-based carrier-screening guidelines are incomplete and miss carriers in at-risk populations.

Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures

The paper highlights the lack of standard definitions and protocols for collecting and using race, ethnicity, and ancestry data in clinical genetics and precision medicine.

Predicting the genetic ancestry of 2.6 million New York City patients using clinical data

This paper predicts genetic ancestry for 2.6 million NYC patients using only clinical data from EHRs, achieving over 80% accuracy for unknown or other ancestries.

Multiple Measures Reveal The Value of Both Race And Geographic Ancestry For Self-Identification

The paper examines how self-reported race and geographic ancestry relate to genetic data in a large U.S. cohort, finding that combining both measures better reflects genetic ancestry than either alone.

Concordance of Race Documented in Electronic Health Records and Genetic Ancestry

The paper assesses agreement between EHR-derived race and genetic ancestry, finding high concordance for European ancestry but lower for African ancestry.

Current clinical use of polygenic scores will risk exacerbating health disparities

Eurocentric GWAS make polygenic scores less accurate in non-Europeans (mean 4.9-fold lower for UK Biobank Africans); equal-sized ancestry-matched GWAS predict better in Japanese and British individuals.

Uncovering the role of admixture in disease and drug response: Association of hepatocyte gene expression and DNA methylation with African Ancestry in African Americans.

The paper identifies genes and methylation regions associated with West African ancestry in African Americans and links them to disease and drug response pathways.

The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics

The paper analyzes REA data collection practices and disparities in gnomAD, highlighting the need for standardized frameworks to improve diversity and variant interpretation in clinical genomics.

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

The paper introduces a standardized framework for ancestry data representation in genomics studies and applies it to the NHGRI-EBI GWAS Catalog to improve data integration and analysis.

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

The paper evaluates the reliability of self-reported ethnicity versus genetic ancestry in carrier screening and finds discrepancies that affect carrier risk estimation.

Serum proteins can successfully predict self-reported ethnicity: Implications for precision-medicine

The paper uses serum protein levels to predict self-reported ethnicity with high accuracy, suggesting proteomic differences between ethnic groups and implications for precision medicine.

Sharing genetic admixture and diversity of public biomedical datasets

The paper proposes a framework to enrich public biomedical datasets with admixture information and diversity scores, using The Cancer Genome Atlas data to demonstrate its utility.

Biogeographic Ancestry and Socioeconomic Outcomes in the Americas: a Meta-analysis

The paper conducts a meta-analysis of 41 studies to examine the association between biogeographic ancestry and socioeconomic status in the Americas, finding consistent directional relationships.