A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement

被引:17
|
作者
Mauro, Madelyn [1 ]
Allen, Danielle S. [1 ]
Dauda, Bege [2 ,3 ]
Molina, Santiago J. [4 ]
Neale, Benjamin M. [5 ,6 ,7 ]
Lewis, Anna C. F. [1 ,8 ]
机构
[1] Harvard Univ, Edmond J Safra Ctr Ethics, Cambridge, MA 02138 USA
[2] Univ Penn, Ctr Global Genom & Hlth Equ, Philadelphia, PA USA
[3] St Josephs Univ, Inst Clin Bioeth, Philadelphia, PA USA
[4] Northwestern Univ, Dept Sociol, Evanston, IL USA
[5] Broad Inst Harvard & MIT, Cambridge, MA USA
[6] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA
[7] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA
[8] Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
关键词
REDUCING HEALTH DISPARITIES; ETHICAL IMPLICATIONS; BIOMEDICAL-RESEARCH; GENETIC RESEARCH; PUBLIC-HEALTH; PHARMACOGENOMICS; MEDICINE; GENOMICS; CLASSIFICATION; POPULATION;
D O I
10.1016/j.ajhg.2022.11.001
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The use of population descriptors such as race, ethnicity, and ancestry in science, medicine, and public health has a long, complicated, and at times dark history, particularly for genetics, given the field's perceived importance for understanding between-group differences. The historical and potential harms that come with irresponsible use of these categories suggests a clear need for definitive guidance about when and how they can be used appropriately. However, while many prior authors have provided such guidance, no established consensus exists, and the extant literature has not been examined for implied consensus and sources of disagreement. Here, we present the results of a scoping review of published normative recommendations regarding the use of population categories, particularly in genetics research. Following PRISMA guidelines, we extracted recommendations from n 1/4 121 articles matching inclusion criteria. Articles were published consistently throughout the time period examined and in a broad range of journals, demonstrating an ongoing and interdisciplinary perceived need for guidance. Examined recommendations fall under one of eight themes identified during analysis. Seven are characterized by broad agreement across articles; one, "appropriate definitions of population categories and contexts for use,"revealed substantial fundamental disagreement among articles. Additionally, while many articles focus on the inappropriate use of race, none fundamentally problematize ancestry. This work can be a resource to researchers looking for normative guidance on the use of population descriptors and can orient authors of future guidelines to this complex field, thereby contributing to the development of more effective future guidelines for genetics research.
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页码:2110 / 2125
页数:16
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