Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants.

Literature DB >> 32308829

Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants.

Paul Dexter^1,2, Henry Ong³, Amanda Elsey⁴, Gillian Bell⁵, Nephi Walton⁶, Wendy Chung⁷, Luke Rasmussen⁸, Kevin Hicks⁹, Aniwaa Owusu-Obeng¹⁰, Stuart Scott¹⁰, Steve Ellis¹⁰, Josh Peterson³.

Abstract

Precision health's more individualized molecular approach will enrich our understanding of disease etiology and patient outcomes. Universal implementation of precision health will not be feasible, however, until there is much greater automation of processes related to genomic data transmission, transformation, and interpretation. In this paper, we describe a framework for genomic data flow developed by the Clinical Informatics Work Group of the NIH National Human Genome Research Institute (NHGRI) IGNITE Network consortium. We subsequently report the results of a genomic data flow survey administered to sites funded by NIH-NHGRI for large scale genomic medicine implementations. Finally, we discuss insights and challenges identified through these survey results as they relate to both the current and a desirable future state of genomic data flow. ©2019 AMIA - All rights reserved.

Entities: Species

Year: 2020 PMID： 32308829 PMCID： PMC7153090

Source DB: PubMed Journal: AMIA Annu Symp Proc ISSN： 1559-4076

21 in total

1. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support.

Authors: Paul A Harris; Robert Taylor; Robert Thielke; Jonathon Payne; Nathaniel Gonzalez; Jose G Conde
Journal: J Biomed Inform Date: 2008-09-30 Impact factor: 6.317

2. Supporting interoperability of genetic data with LOINC.

Authors: Jamalynne Deckard; Clement J McDonald; Daniel J Vreeman
Journal: J Am Med Inform Assoc Date: 2015-02-05 Impact factor: 4.497

3. Understanding the Bioinformatics Challenges of Integrating Genomics into Healthcare.

Authors: Ahmad Al Kawam; Arun Sen; Aniruddha Datta; Nancy Dickey
Journal: IEEE J Biomed Health Inform Date: 2017-11-29 Impact factor: 5.772

4. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Authors: Nazneen Aziz; Qin Zhao; Lynn Bry; Denise K Driscoll; Birgit Funke; Jane S Gibson; Wayne W Grody; Madhuri R Hegde; Gerald A Hoeltge; Debra G B Leonard; Jason D Merker; Rakesh Nagarajan; Linda A Palicki; Ryan S Robetorye; Iris Schrijver; Karen E Weck; Karl V Voelkerding
Journal: Arch Pathol Lab Med Date: 2014-08-25 Impact factor: 5.534

5. Clinical interpretation and implications of whole-genome sequencing.

Authors: Frederick E Dewey; Megan E Grove; Cuiping Pan; Benjamin A Goldstein; Jonathan A Bernstein; Hassan Chaib; Jason D Merker; Rachel L Goldfeder; Gregory M Enns; Sean P David; Neda Pakdaman; Kelly E Ormond; Colleen Caleshu; Kerry Kingham; Teri E Klein; Michelle Whirl-Carrillo; Kenneth Sakamoto; Matthew T Wheeler; Atul J Butte; James M Ford; Linda Boxer; John P A Ioannidis; Alan C Yeung; Russ B Altman; Themistocles L Assimes; Michael Snyder; Euan A Ashley; Thomas Quertermous
Journal: JAMA Date: 2014-03-12 Impact factor: 56.272

6. Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.

Authors: Shannon F Manzi; Vincent A Fusaro; Laura Chadwick; Catherine Brownstein; Catherine Clinton; Kenneth D Mandl; Wendy A Wolf; Jared B Hawkins
Journal: J Am Med Inform Assoc Date: 2016-06-14 Impact factor: 4.497

Review 7. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers.

Authors: Henry M Dunnenberger; Kristine R Crews; James M Hoffman; Kelly E Caudle; Ulrich Broeckel; Scott C Howard; Robert J Hunkler; Teri E Klein; William E Evans; Mary V Relling
Journal: Annu Rev Pharmacol Toxicol Date: 2014-10-02 Impact factor: 13.820

Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants.

1. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support.

2. Supporting interoperability of genetic data with LOINC.

3. Understanding the Bioinformatics Challenges of Integrating Genomics into Healthcare.

4. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

5. Clinical interpretation and implications of whole-genome sequencing.

6. Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.

Review 7. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers.

8. Taxonomizing, sizing, and overcoming the incidentalome.

9. A proposed clinical decision support architecture capable of supporting whole genome sequence information.

Review 10. Big Data Analytics for Genomic Medicine.

Review 1. The Role of Electronic Health Records in Advancing Genomic Medicine.