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Physiol Genomics. 2018 Aug 1;50(8):563-579. doi: 10.1152/physiolgenomics.00046.2018. Epub 2018 May 4.

Genome sequencing in the clinic: the past, present, and future of genomic medicine.

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HudsonAlpha Institute for Biotechnology , Huntsville, Alabama.
Department of Pediatrics and Human Development, Michigan State University , East Lansing, Michigan.
Department of Pharmacology and Toxicology, Michigan State University , East Lansing, Michigan.
Institute for Health and Aging, University of California San Francisco , San Francisco, California.
Elson S. Floyd College of Medicine, Washington State University , Spokane, Washington.
Department of Genetics, Helen DeVos Children's Hospital, Spectrum Health, Grand Rapids, Michigan.
Department of Pediatric Critical Care Medicine, Helen DeVos Children's Hospital, Spectrum Health, Grand Rapids, Michigan.


Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis. The tools of genomics have resolved the etiology of disease for previously undiagnosable conditions, identified cancer driver gene variants, and have impacted the understanding of pathophysiology for many diseases. However, this expansion of use has also highlighted research's current voids in knowledge. The lack of precise animal models for gene-to-function association, lack of tools for analysis of genomic structural changes, skew in populations used for genetic studies, publication biases, and the "Unknown Proteome" all contribute to voids needing filled for genomics to work in a fast-paced clinical setting. The future will hold the tools to fill in these voids, with new data sets and the continual development of new technologies allowing for expansion of genomic medicine, ushering in the days to come for precision medicine. In this review we highlight these and other points in hopes of advancing and guiding precision medicine into the future for optimal success.


GWAS; VUS; clinical sequencing; ethics; whole genome sequencing

[Available on 2019-08-01]

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