Wednesday, May 30, 2018

Very Brief Blog: A New Graphic for the Progress of Genomics (Prokop, Hudson Alpha)

The Hudson Alpha Institute was recently in the news for a new program involving broad genomic sequencing of newborns with suspected genetic disorders (Genomeweb here.)     See also an interesting review article by Prokop et al. (many authors at Hudson Alpha; Prokop is now at MSU) on "Genome Sequencing in the Clinic: Past, Present, Future of Genomic Medicine." 

The review appears in Physiologic Genomics May 2018 (epub; PMID 29727589; here.)  I've clipped the full abstract below the break.

There's a notable illustration on the history of genomics, beginning with Darwin, winding to the right for the 2003 human genome sequencing, and then winding back to the left with events up to 2018. 

Prokop 2018 (Physiol Genom PMID 29727589)


 2018 May 4. doi: 10.1152/physiolgenomics.00046.2018. [Epub ahead of print]

Genome Sequencing in the Clinic: The Past, Present, and Future of Genomic Medicine.

Author information

Pediatrics and Human Development, Michigan State University, United States.
Dept. of Medical Education, Washington State University, United States.
Hudson Alpha, United States.


Genomic sequencing has undergone massive expansion in the past ten years, opening the door from being 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 pace clinical setting. The future will hold the tools to fill in these voids, with new datasets 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