ArticleAmerican journal of human genetics2020
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Disparities in ABO blood type determination across diverse ancestries: a systematic review and validation in the All of Us Research Program.Journal of the American Medical Informatics Association : JAMIA · 2024Pooled it
- Multiracial individuals' perspectives on participating in genetics research.Journal of community genetics · 2026Article
- Narratives before numbers: Reimagining conversations about race, ethnicity, and ancestry information in genetic counseling practice.Journal of genetic counseling · 2025Article
- Perceptual and technical barriers in sharing and formatting metadata accompanying omics studies.Cell genomics · 2025Review
- Underrepresented populations in genomic research: a qualitative study of researchers' perspectives.BMC medical genomics · 2025Article
- Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.American journal of human genetics · 2025Review
- Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.American journal of human genetics · 2025Review
- Race, ethnicity, and ancestry reporting in genetic counseling research: A focused mapping review and synthesis.Journal of genetic counseling · 2025Review
- Health equity innovation in precision medicine: data stewardship and agency to expand representation in clinicogenomics.Health research policy and systems · 2024Article
- Patterns of pharmacogenetic variation in nine biogeographic groups.Clinical and translational science · 2024Article
- Volumetry of Hand and Forearm: A 3D Volumetric Approach.Hand (New York, N.Y.) · 2024Article
- Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.American journal of human genetics · 2024Review
- Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.Journal of medical genetics · 2024Article
- The Inclusion of Underrepresented Populations in Cardiovascular Genetics and Epidemiology.Journal of cardiovascular development and disease · 2024Review
- Ethno-racial categorisations for biomedical studies: the fair selection of research participants and population stratification.Synthese · 2024Article
- Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.Genetics in medicine open · 2024Article
- Establishing regions of interest of the lower leg and ankle for perioperative volumetric assessment with a portable 3D scanner in orthopedic and trauma surgery - a pilot study.Journal of foot and ankle research · 2023Article
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Molecular genetics & genomic medicine · 2023Article
- Including multiracial individuals is crucial for race, ethnicity and ancestry frameworks in genetics and genomics.Nature genetics · 2023Article
- Guidelines for genetic ancestry inference created through roundtable discussions.HGG advances · 2023Article
Corrections and comments
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Authors and funding
17 authors.
Funding
Abstract
Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (n = 448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importance of REA in both clinical and research settings. The majority of respondents (>55%) felt that REA are at least somewhat important for clinical variant interpretation, ordering genetic tests, and communicating results to patients. However, there was no consensus on the relevance of REA, including how each of these measures should be used in different scenarios and what information they can convey in the context of human genetics. A lack of common definitions and applications of REA across the precision medicine pipeline may contribute to inconsistencies in data collection, missing or inaccurate classifications, and misleading or inconclusive results. Thus, our findings support the need for standardization and harmonization of REA data collection and use in clinical genetics and precision health research.
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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.