Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories
| Autor: | Srikar Chamala, Petr Starostik, Nephi A. Walton, Kimberly J. Newsom, Robert H. Dolin, Siddardha Majety, Shesh Nath Mishra, Shaileshbhai Revabhai Gothi |
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| Rok vydání: | 2020 |
| Předmět: |
0303 health sciences
Embryology medicine.medical_specialty Clinical pathology Molecular pathology Process (engineering) Computer science Genomic research Translational research Cell Biology Disease Bioinformatics 03 medical and health sciences 0302 clinical medicine Workflow medicine Genomic medicine 030212 general & internal medicine Anatomy 030304 developmental biology Developmental Biology |
| Zdroj: | ACI Open. :e167-e172 |
| ISSN: | 2566-9346 |
| DOI: | 10.1055/s-0040-1721480 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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