Lowe Chenery, Gomez-Stafford Justin, Martschenko Daphne O
Center for Biomedical Ethics, Department of Pediatrics, Stanford University, Stanford, California, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
J Genet Couns. 2025 Apr;34(2):e1976. doi: 10.1002/jgc4.1976. Epub 2024 Oct 7.
The conflation of race and genetic ancestry can have harmful consequences. Biological conceptualizations of race have long been used to justify inequities and distract from social structures that afford opportunities to some that are unjustly denied to others. Despite recent efforts within the scientific community to distinguish between the sociopolitical constructs of race and ethnicity and the biological constructs of genetic ancestry and genetic similarity, their conflation continues to influence genomic research and its translation into clinical care. One overlooked aspect of this problematic conflation is the extent to which discrete monoracial and monoethnic categorization systems persist and perpetuate unequal benefit-sharing in the clinical translation of genomic technologies. In genetic service delivery, reliance on discrete racial and ethnic categories undermines the clinical translation of genomic technologies for large segments of the global population. For multiracial and multiethnic individuals, who have complex identities that defy discrete categorization systems, the potential benefits of genomic discoveries are especially elusive. Scholars have recently begun to call for the inclusion of multiracial, multiethnic, and admixed individuals in race, ethnicity, and ancestry frameworks in genetics and genomics. However, little work has been done to explore and address the unique challenges and opportunities posed by multiracial/multiethnic individuals in genetic counseling specifically. We discuss how conceptualizing diversity along discrete racial and ethnic lines perpetuates inequitable patient care and limits efforts to increase inclusion and belonging within genetic counseling. Moreover, we argue that ongoing efforts to mitigate racial inequity must actively challenge the paradigm of monoracial and monoethnic categories to accomplish their goal.
种族与基因血统的混淆可能会产生有害后果。长期以来，种族的生物学概念一直被用来为不平等现象辩护，并转移人们对社会结构的注意力，这种社会结构为一些人提供了机会，却不公平地剥夺了另一些人的机会。尽管科学界最近努力区分种族和族裔的社会政治建构与基因血统和基因相似性的生物学建构，但它们的混淆仍在影响基因组研究及其临床应用。这种有问题的混淆中一个被忽视的方面是，离散的单一种族和单一族裔分类系统在多大程度上持续存在，并在基因组技术的临床应用中延续不平等的利益分配。在基因服务提供方面，依赖离散的种族和族裔类别破坏了基因组技术在全球大部分人口中的临床应用。对于具有复杂身份、无法用离散分类系统界定的多种族和多族裔个体来说，基因组发现的潜在益处尤其难以捉摸。学者们最近开始呼吁在遗传学和基因组学的种族、族裔和血统框架中纳入多种族、多族裔和混血个体。然而，专门探讨和应对多种族/多族裔个体在遗传咨询中带来的独特挑战和机遇的工作做得很少。我们讨论了按照离散的种族和族裔界限来概念化多样性如何延续不公平的患者护理，并限制了在遗传咨询中增加包容性和归属感的努力。此外，我们认为，为减轻种族不平等而正在进行的努力必须积极挑战单一种族和单一族裔类别的范式，以实现其目标。
