alexa Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
Clinical Research

Clinical Research

Journal of Clinical Research & Bioethics

Author(s): Jonathan S Berg

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Technological advances often outpace our ability to effectively use them, a situation that certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing technology have the potential to make whole genome sequencing (WGS) available for healthcare and disease prevention. However, current practices in medical genetics are not directly applicable to robust genomic analysis, and new approaches are needed which are “scalable” to this new reality. If the field merely attempts to overlay traditional medical genetic approaches to patient consent and analysis, based on a soon to be obsolete model of testing and analyzing “one-gene-at-a-time,” it threatens to stall our ability to realize the promise of genomic medicine. The informed consent process, data analysis and clinical interpretation, and return of results must be achievable within a reasonable time frame, provide results in a manner consistent with responsible clinical genetics practice, and yet still comport with the realities of modern medicine. This challenge is illustrated by recent reports suggesting that the informed consent process could require 6 hours of face-to-face discussion over the course of several sessions1 or that delivery of results would require as much as 5 hours of direct patient contact.2 Thus, new approaches, thoughtfully developed around the unique features of whole genome analysis, are required. The challenges facing the deployment of WGS in clinical practice and public health, while substantial, are not insurmountable if we learn from the way in which other complex technologies are handled in medicine and move forward in an evidence-based manner.

This article was published in Genetics in Medicine and referenced in Journal of Clinical Research & Bioethics

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