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Balancing uncertainty with patient autonomy in precision medicine

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By the nature of their unknown pathogenicity, variants of unknown significance (VUS) should not inform clinical decisions for genetic carrier testing; nevertheless, VUS are increasingly returned to patients. We argue that the benefits of returning VUS to patients are outweighed by the potential for individual and health-care system-level harm.

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Acknowledgements

The authors thank C. McCabe for his valuable feedback on the development of this comment. They acknowledge support from the Canadian Institutes of Health Research (PCG-155555) and from Genome British Columbia’s Societal Issues Grant (SOC001). The Canadian Centre for Applied Research in Cancer Control (ARCC) is funded by Canadian Cancer Society Grant no. 2015-703549.

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S.P. and D.A.R. researched the literature and wrote the article. All authors provided substantial contributions to discussions of the content and reviewed and/or edited the manuscript before submission.

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Correspondence to Dean A. Regier.

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Competing interests

D.A.R. has received travel support from Illumina to attend conferences in Boston, USA, and Barcelona, Spain. S.P. and S.S. declare no competing interests.

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Pollard, S., Sun, S. & Regier, D.A. Balancing uncertainty with patient autonomy in precision medicine. Nat Rev Genet 20, 251–252 (2019). https://doi.org/10.1038/s41576-019-0111-9

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