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CC BY 4.0 · ACI open 2020; 04(02): e167-e172
DOI: 10.1055/s-0040-1721480
Case Report

Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories

Srikar Chamala
1   Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida, United States
,
Siddardha Majety
2   Department of Computer and Information Science and Engineering, University of Florida, Gainesville, Florida, United States
,
Shesh Nath Mishra
2   Department of Computer and Information Science and Engineering, University of Florida, Gainesville, Florida, United States
,
Kimberly J. Newsom
1   Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida, United States
,
Shaileshbhai Revabhai Gothi
2   Department of Computer and Information Science and Engineering, University of Florida, Gainesville, Florida, United States
,
Nephi A. Walton
3   Intermountain Precision Genomics, St. George, Utah, United States
,
Robert H. Dolin
4   Elimu Informatics, Richmond, California, United States
,
Petr Starostik
1   Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, Florida, United States
› Author Affiliations Funding None.
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Abstract

Patient care is rapidly evolving toward the inclusion of precision genomic medicine when genomic tests are used by clinicians to determine disease predisposition, prognosis, diagnosis, and improve therapeutic decision-making. However, unlike other clinical pathology laboratory tests, the development, deployment, and delivery of genomic tests and results are an intricate process. Genomic technologies are diverse, fast changing, and generate massive data. Implementation of these technologies in a Clinical Laboratory Improvement Amendments-certified and College of American Pathologists-accredited pathology laboratory often require custom clinical grade computational data analysis and management workflows. Additionally, accurate classification and reporting of clinically actionable genetic mutation requires well-curated disease/application-specific knowledgebases and expertise. Moreover, lack of “out of the box” technical features in electronic health record systems necessitates custom solutions for communicating genetic information to clinicians and patients. Genomic data generated as part of clinical care easily adds great value for translational research. In this article, we discuss current and future innovative clinical bioinformatics solutions and workflows developed at our institution for effective implementation of precision genomic medicine across molecular pathology, patient care, and translational genomic research.

Keywords

bioinformatics - genome - medical informatics - pathology - diagnostic tests - clinical laboratory information systems - electronic health records - molecular testing - next-generation sequencing - cancer

Authors' Contributions

All authors participated in the conceptualization and design of the clinical genomics and bioinformatics protocol and workflows described in this manuscript. S.C., S.M., K.N., S.R.G., and R.D. lead the informatics implementation efforts. S.C., N.W., and R.D. took the lead in writing the manuscript with all authors' input. All authors provided critical feedback and approved the final version.


Supplementary Material



Publication History

Received: 29 June 2020

Accepted: 04 November 2020

Article published online:
31 December 2020

© 2020. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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