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Updated: Jul 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Research ethics and the challenge of whole-genome sequencing
Amy L McGuire1, Timothy Caulfield, Mildred K Cho
1Amy L. McGuire is at the Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas 77030, USA.
Abstract:
The recent completion of the first two individual whole-genome sequences is a research milestone. As personal genome research advances, investigators and international research bodies must ensure ethical research conduct. We identify three major ethical considerations that have been implicated in whole-genome research: the return of research results to participants; the obligations, if any, that are owed to participants' relatives; and the future use of samples and data taken for whole-genome sequencing. Although the issues are not new, we discuss their implications for personal genomics and provide recommendations for appropriate management in the context of research involving individual whole-genome sequencing.
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