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Return of genetic testing results in the era of whole-genome sequencing

Nature Reviews Genetics volume 16, pages 553559 (2015) | Download Citation


Genetic testing based on whole-genome sequencing (WGS) often returns results that are not directly clinically actionable as well as raising the possibility of incidental (secondary) findings. In this article, we first survey the laws and policies guiding both researchers and clinicians in the return of results for WGS-based genetic testing. We then provide an overview of the landscape of international legislation and policies for return of these results, including considerations for return of incidental findings. Finally, we consider a range of approaches for the return of results.

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The authors thank E. Kleiderman and A. Pack (from the Centre of Genomics and Policy) for their assistance. In addition, the authors thank the Ministère de l'Économie, l'Innovation et des Exportations du Québec; the Fonds de Recherche du Québec; the Network of Applied Genetic Medicine of Québec; and Care4Rare Canada Consortium funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec and Children's Hospital of Eastern Ontario Foundation.

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  1. Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University, Canada. 740, avenue Dr. Penfield, Montréal, Quebec H3A 0G1, Canada.

    • Bartha Maria Knoppers
    • , Ma'n H. Zawati
    •  & Karine Sénécal


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The authors declare no competing financial interests.

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Correspondence to Bartha Maria Knoppers.

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