Journal of Personalized Medicine (Nov 2022)
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health
- Nephi A. Walton,
- Brent Hafen,
- Sara Graceffo,
- Nykole Sutherland,
- Melanie Emmerson,
- Rachel Palmquist,
- Christine M. Formea,
- Maricel Purcell,
- Bret Heale,
- Matthew A. Brown,
- Christopher J. Danford,
- Sumathi I. Rachamadugu,
- Thomas N. Person,
- Katherine A. Shortt,
- G. Bryce Christensen,
- Jared M. Evans,
- Sharanya Raghunath,
- Christopher P. Johnson,
- Stacey Knight,
- Viet T. Le,
- Jeffrey L. Anderson,
- Margaret Van Meter,
- Teresa Reading,
- Derrick S. Haslem,
- Ivy C. Hansen,
- Betsey Batcher,
- Tyler Barker,
- Travis J. Sheffield,
- Bhaskara Yandava,
- David P. Taylor,
- Pallavi Ranade-Kharkar,
- Christopher C. Giauque,
- Kenneth R. Eyring,
- Jesse W. Breinholt,
- Mickey R. Miller,
- Payton R. Carter,
- Jason L. Gillman,
- Andrew W. Gunn,
- Kirk U. Knowlton,
- Joshua L. Bonkowsky,
- Kari Stefansson,
- Lincoln D. Nadauld,
- Howard L. McLeod
Affiliations
- Nephi A. Walton
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Brent Hafen
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Sara Graceffo
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Nykole Sutherland
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Melanie Emmerson
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Rachel Palmquist
- Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA
- Christine M. Formea
- Department of Pharmacy, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Maricel Purcell
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Bret Heale
- Humanized Health Consulting, Salt Lake City, UT 84102, USA
- Matthew A. Brown
- Brainspin, Salt Lake City, UT 84123, USA
- Christopher J. Danford
- Transplant Services, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Sumathi I. Rachamadugu
- Department of Bioinformatics and Genomics, Pennsylvania State University, University Park, PA 16802, USA
- Thomas N. Person
- John Hopkins Genomics—DNA Diagnostics Laboratory, Department of Genetic Medicine, John Hopkins University School of Medicine, Baltimore, MD 21205, USA
- Katherine A. Shortt
- Ambry Genetics, Aliso Viejo, CA 92656, USA
- G. Bryce Christensen
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Jared M. Evans
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Sharanya Raghunath
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Christopher P. Johnson
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Stacey Knight
- Department of Cardiology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Viet T. Le
- Department of Cardiology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Jeffrey L. Anderson
- Department of Cardiology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Margaret Van Meter
- Department of Medical Oncology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Teresa Reading
- Department of Surgery, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Derrick S. Haslem
- Department of Cardiology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Ivy C. Hansen
- School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
- Betsey Batcher
- Department of Endocrinology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Tyler Barker
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Travis J. Sheffield
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Bhaskara Yandava
- Digital Technology Services, Intermountain Healthcare, Salt Lake City, UT 84130, USA
- David P. Taylor
- Digital Technology Services, Intermountain Healthcare, Salt Lake City, UT 84130, USA
- Pallavi Ranade-Kharkar
- Digital Technology Services, Intermountain Healthcare, Salt Lake City, UT 84130, USA
- Christopher C. Giauque
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Kenneth R. Eyring
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Jesse W. Breinholt
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Mickey R. Miller
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Payton R. Carter
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Jason L. Gillman
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Andrew W. Gunn
- Center for Personalized Medicine, Primary Children’s Hospital, Intermountain Healthcare, Salt Lake City, UT 84113, USA
- Kirk U. Knowlton
- Department of Cardiology, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Joshua L. Bonkowsky
- Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA
- Kari Stefansson
- DeCode Genetics/AmGen, Inc., IS-101 Reykjavik, Iceland
- Lincoln D. Nadauld
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- Howard L. McLeod
- Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT 84107, USA
- DOI
- https://doi.org/10.3390/jpm12111867
- Journal volume & issue
-
Vol. 12,
no. 11
p. 1867
Abstract
The clinical use of genomic analysis has expanded rapidly resulting in an increased availability and utility of genomic information in clinical care. We have developed an infrastructure utilizing informatics tools and clinical processes to facilitate the use of whole genome sequencing data for population health management across the healthcare system. Our resulting framework scaled well to multiple clinical domains in both pediatric and adult care, although there were domain specific challenges that arose. Our infrastructure was complementary to existing clinical processes and well-received by care providers and patients. Informatics solutions were critical to the successful deployment and scaling of this program. Implementation of genomics at the scale of population health utilizes complicated technologies and processes that for many health systems are not supported by current information systems or in existing clinical workflows. To scale such a system requires a substantial clinical framework backed by informatics tools to facilitate the flow and management of data. Our work represents an early model that has been successful in scaling to 29 different genes with associated genetic conditions in four clinical domains. Work is ongoing to optimize informatics tools; and to identify best practices for translation to smaller healthcare systems.
Keywords
- precision medicine
- population health genomics
- genome sequencing
- population sequencing
- healthcare infrastructure
- genomic medicine