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Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Popejoy, Alice B; Crooks, Kristy R; Fullerton, Stephanie M; Hindorff, Lucia A; Hooker, Gillian W; Koenig, Barbara A; Pino, Natalie; Ramos, Erin M; Ritter, Deborah I; Wand, Hannah; Wright, Matt W; Yudell, Michael; Zou, James Y; Plon, Sharon E; Bustamante, Carlos D; Ormond, Kelly E.
Afiliación
  • Popejoy AB; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: apopejoy@stanford.edu.
  • Crooks KR; Department of Pathology, University of Colorado, Aurora, CO 80045, USA.
  • Fullerton SM; Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Hindorff LA; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Hooker GW; Concert Genetics, Nashville, TN 37204, USA.
  • Koenig BA; Program in Bioethics, University of California San Francisco Laurel Heights, San Francisco, CA 94118, USA.
  • Pino N; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Ramos EM; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Ritter DI; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wand H; Department of Pathology, Stanford University, Stanford, CA 94305, USA; Department of Cardiology, Stanford Healthcare, Stanford, CA 94305, USA.
  • Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Yudell M; Department of Community Health and Prevention, Dornsife School of Public Health, Drexel University, Philadelphia, PA 19104, USA.
  • Zou JY; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Plon SE; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bustamante CD; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Ormond KE; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
Am J Hum Genet ; 107(1): 72-82, 2020 07 02.
Article en En | MEDLINE | ID: mdl-32504544
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Recolección de Datos Tipo de estudio: Guideline / Prognostic_studies / Qualitative_research Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Recolección de Datos Tipo de estudio: Guideline / Prognostic_studies / Qualitative_research Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos