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Updated: Apr 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Return of genetic testing results in the era of whole-genome sequencing
Bartha Maria Knoppers1, Ma'n H Zawati1, Karine Sénécal1
1Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University, Canada. 740, avenue Dr. Penfield, Montréal, Quebec H3A 0G1, Canada.
Abstract:
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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