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Commentary
Promoting diagnostic equity: specifying genetic similarity rather than race or ethnicity
  1. Katherine Witte Saylor1,
  2. Daphne Oluwaseun Martschenko2
  1. 1 Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
  2. 2 Center for Biomedical Ethics, Department of Pediatrics, Stanford Medicine, Stanford, California, USA
  1. Correspondence to Dr Katherine Witte Saylor, Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; kwsaylor{at}pennmedicine.upenn.edu

https://doi.org/10.1136/jme-2023-109449

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    In their article on the limited duty to reinterpret genetic variants, Watts and Newson argue that clinical labs are not morally obligated to conduct routine reinterpretation despite its potential clinical and personal value.1 We endorse the authors’ argument for a circumscribed duty to reclassify genomic variants in certain cases, including to promote diagnostic equity for racial and ethnic minority populations that have been historically excluded from and exploited by genomic research and medicine. However, given the history and resilience of scientific racism, the use of socially constructed racial and ethnic categories to enhance diagnostic equity raises several ethical and practical challenges.

    In the short term, using socially constructed racial and ethnic categories to identify patients for variant reclassification is a practical approach for addressing concerns of diagnostic equity. In contrast, diagnostic accuracy depends on patients’ genetic similarity to reference genomes, rather than their socially determined race or ethnicity.2 Thus, in the long term, securing both diagnostic equity and diagnostic accuracy through targeted variant reclassification will require a shift away from relying on race and ethnicity and towards assessing genetic similarity.

    Critically, the identification of patients for genomic variant reclassification using socially constructed race or ethnicity runs the risk of perpetuating the harmful …

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    Footnotes

    • Twitter @kwsaylor, @daphmarts

    • Contributors Both authors collaborated on conceptualisation. KWS wrote the original draft. DOM revised and added to the original draft. Both authors participated in critical review and revision of the final manuscript.

    • Funding This study was funded by National Institutes of Health (grant number: T32HG009496).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; internally peer reviewed.

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