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  • Perspective
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A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate

Abstract

Genetic discrimination is an evolving phenomenon that impacts fundamental human rights such as dignity, justice and equity. Although, in the past, various definitions to better conceptualize genetic discrimination have been proposed, these have been unable to capture several key facets of the phenomenon. In this Perspective, we explore definitions of genetic discrimination across disciplines, consider criticisms of such definitions and show how other forms of discrimination and stigmatization can compound genetic discrimination in a way that affects individuals, groups and systems. We propose a nuanced and inclusive definition of genetic discrimination, which reflects its multifaceted impact that should remain relevant in the face of an evolving social context and advancing science. We argue that our definition should be adopted as a guiding academic framework to facilitate scientific and policy discussions about genetic discrimination and support the development of laws and industry policies seeking to address the phenomenon.

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Acknowledgements

All authors are members of the GA4GH and/or the GDO. We thank the members of the GDO and the GA4GH genetic discrimination group for their contributions to discussions on genetic discrimination. We also thank P. Ayyappaswamy, N. Palmour and E. Kondrup from the McGill Centre of Genomics and Policy for editorial assistance with the manuscript. We are grateful for the financial support of Supporting Canadian Leadership in International Genomic Data Sharing through the GA4GH funded by Genome Canada and Génome Québec. Participation of A.V.-A. in this work was supported by the FAPA project (PVI0122029) from the Universidad de Los Andes. Participation of Y.B. in this work was supported by the Canada Research Chair in Genomics Health Services and Policy.

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Contributions

Conceptualization: B.K., M.C.R.-A. and Y.J. Analysis: B.K., M.C.R.-A. and K.C. Writing: B.K., D.U., M.C.R.-A., K.C., A.B., S.C., M.O., A.E.R.P., J.T. and Y.J. Manuscript review: B.K., D.U., M.C.R.-A., K.C., A.B., S.C., M.O., A.E.R.P., J.T., A.A., Y.B., C.D., P.G.M., R.R., A.V.-A. and Y.J.

Corresponding author

Correspondence to Yann Joly.

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Competing interests

Y.J. is the Director of the GDO and the Co-Lead of the Global Alliance for Genomics and Health (GA4GH) Regulatory and Ethics Work Stream. Y.B. is the cofounder and CEO of Genetics Adviser. All other authors declare no competing interests.

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Kaiser, B., Uberoi, D., Raven-Adams, M.C. et al. A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate. Nat Genet 56, 1339–1345 (2024). https://doi.org/10.1038/s41588-024-01786-8

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