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Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network

Marc S. Williams, Casey Overby Taylor, Nephi A. Walton, Scott R. Goehringer, Samuel Aronson, Robert R. Freimuth, Luke V. Rasmussen, Eric S. Hall, Cynthia A. Prows, Wendy K. Chung, Alexander Fedotov, Jordan Nestor (+5 others)
2019 Frontiers in Genetics  
The electronic health record working groups of the Electronic Medical Records and Genomics (eMERGE) Network and the Clinical Genome Resource (ClinGen) project, along with other groups, have been defining  ...  The electronic health record is an essential component of clinician workflow.  ...  Much like an imaging archiving system, an ancillary genomic system can offer federated storage solutions optimized for the heterogeneity and size of genomic data and results.  ... 
doi:10.3389/fgene.2019.01059 pmid:31737042 pmcid:PMC6830110 fatcat:gclp4ndqlbddncpmxv5yelzauq

Implementation and utilization of genetic testing in personalized medicine

Stuart Scott, Noura Abul-Husn, Aniwaa Owusu Obeng, Saskia Sanderson, Omri Gottesman
2014 Pharmacogenomics and Personalized Medicine  
This review aims to summarize the current state of implementing genetic testing for personalized medicine, with an emphasis on clinical pharmacogenetic testing.  ...  However, genetic testing for disease risk estimation is an ongoing topic of debate, largely due to inconsistencies in the results, concerns over clinical validity and utility, and the variable mode of  ...  The other authors report no conflicts of interest in this work.  ... 
doi:10.2147/pgpm.s48887 pmid:25206309 pmcid:PMC4157398 fatcat:r7bdadyel5awhcvn67wlvni66e

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Muin J. Khoury, W. Gregory Feero, David A. Chambers, Lawrence E. Brody, Nazneen Aziz, Robert C. Green, A. Cecile J.W. Janssens, Michael F. Murray, Laura Lyman Rodriguez, Joni L. Rutter, Sheri D. Schully, Deborah M. Winn (+1 others)
2018 PLoS Medicine  
of health systems are piloting genomic sequencing projects for clinical care.  ...  Ãà Tiers 2 and 3 genes/variants also provide an opportunity to evaluate how to prepare a health system to anticipate new findings, both positive and negative, related to genome sequencing-what ancillary  ...  Acknowledgments The opinions expressed in this paper are those of the authors and do not reflect the official position of their organizations, the Centers for Disease Control and Prevention, or the National  ... 
doi:10.1371/journal.pmed.1002631 pmid:30071015 pmcid:PMC6071954 fatcat:dajkdqdgnrh5fmvdmrnt3h5l6m

Facilitating Genetics Aware Clinical Decision Support: Putting the eMERGE Infrastructure into Practice

Casey Overby Taylor, Luke V. Rasmussen, Laura J. Rasmussen-Torvik, Cynthia A. Prows, David A. Dorr, Lipika Samal, Samuel Aronson
2021 ACI Open  
in the NIH-funded electronic Medical Records and Genomics (eMERGE) Network.  ...  A case report is a useful tool to describe the range of capabilities that an IT infrastructure or a particular technology must support.  ...  This commentary provides an overview of successes with establishing shared infrastructure for the return of genetic results and the final outcomes of implementing CDS during eMERGE phase III.  ... 
doi:10.1055/s-0041-1729981 fatcat:khapxipt5bc7zbo7scwiiow244

Physicians' Attitudes and Ethical Obligations to Pharmacogenetic Testing

Suhaib Muflih, Belal A Al-Husein, Reema Karasneh, Karem H Alzoubi
2020 Journal of Multidisciplinary Healthcare  
Establishing a minimal set of ethical standards may help emphasize the role of physicians and thus facilitate the implementation of PGt tests.  ...  Almost 49% and 65% of physicians were willing to recommend PGt testing for adult and pediatric patients, respectively.  ...  Acknowledgment This project was carried out as part of "The Research Ethics Education Program in Jordan" and has been supported by NIH (grant number 1R25TW010026-01).  ... 
doi:10.2147/jmdh.s245369 pmid:32210569 pmcid:PMC7071873 fatcat:76lktysezrg65nyzcaq53riuwi

Integration of genomics into the electronic health record: mapping terra incognita

Joseph L. Kannry, Marc S. Williams
2013 Genetics in Medicine  
The survey shows that even though all CSER projects are using the same sequencing technology and the same commercial EHR, there is a great diversity of approach for the return of results.  ...  Development of use cases, 3. Design and testing of the proposed tool (ideally in a developmental environment), 4. Deployment of the tool, and 5. Evaluation of the success of the implementation.  ...  DISClOSURE The authors declare no conflict of interest.  ... 
doi:10.1038/gim.2013.102 pmid:24097178 pmcid:PMC4157459 fatcat:2c7r473hrzawva764pys6ltyk4

Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine

Tonia C. Carter, Max M. He
2016 Journal of Healthcare Engineering  
Integration and manipulation of diverse genomic data and comprehensive electronic health records (EHRs) on a big data infrastructure can provide an efficient and effective way to identify clinically actionable  ...  We review bioinformatics processing of next-generation sequencing (NGS) data, bioinformatics infrastructures for implementing precision medicine, and bioinformatics approaches for identifying clinically  ...  Rachel Stankowski in the Office of Scientific Writing and Publication at the Marshfield Clinic Research Foundation for assistance with editing of this paper.  ... 
doi:10.1155/2016/3617572 pmid:27195526 pmcid:PMC4955563 fatcat:hlolgymxifelvlhpz2gneja36u

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

Robyn Fossey, David Kochan, Erin Winkler, Joel Pacyna, Janet Olson, Stephen Thibodeau, John Connolly, Margaret Harr, Meckenzie Behr, Cynthia Prows, Beth Cobb, Melanie Myers (+21 others)
2018 Journal of Personalized Medicine  
IRBs reviewing studies that involve the return of results from genomic sequencing have a diverse array of concerns, and anticipating these concerns can help investigators to more effectively engage IRBs  ...  We examined the Institutional Review Board (IRB) process at 9 academic institutions in the electronic Medical Records and Genomics (eMERGE) Network, for proposed electronic health record-based genomic  ...  The founding sponsors had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, and in the decision to publish the results.  ... 
doi:10.3390/jpm8010002 pmid:29301385 pmcid:PMC5872076 fatcat:ylmuujr7xvalnddxhm57rmyxzm

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

Brian H Shirts, Joseph S Salama, Samuel J Aronson, Wendy K Chung, Stacy W Gray, Lucia A Hindorff, Gail P Jarvik, Sharon E Plon, Elena M Stoffel, Peter Z Tarczy-Hornoch, Eliezer M Van Allen, Karen E Weck (+11 others)
2015 JAMIA Journal of the American Medical Informatics Association  
The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information.  ...  Results There is substantial heterogeneity in how genetic information enters and is documented in EHR systems.  ...  ACKNOWLEDGEMENTS The authors would like to acknowledge the following individuals for assistance with surveys and other interactions with collaborating sites: Beth Cobb at Cincinnati Children's Hospital  ... 
doi:10.1093/jamia/ocv065 pmid:26142422 pmcid:PMC5009914 fatcat:i3r7gfkz25f5vipplai2pod5ma

Operational Implementation of Prospective Genotyping for Personalized Medicine: The Design of the Vanderbilt PREDICT Project

J M Pulley, J C Denny, J F Peterson, G R Bernard, C L Vnencak-Jones, A H Ramirez, J T Delaney, E Bowton, K Brothers, K Johnson, D C Crawford, J Schildcrout (+9 others)
2012 Clinical Pharmacology and Therapeutics  
The promise of "personalized medicine" guided by an understanding of each individual's genome has been fostered by increasingly powerful and economical methods to acquire clinically relevant information  ...  We describe the operational implementation of prospective genotyping linked to an advanced clinical decision-support system to guide individualized health care in a large academic health center.  ...  General workflow was designed to process samples and return results within three business days after the sample draw. Assay validation.  ... 
doi:10.1038/clpt.2011.371 pmid:22588608 pmcid:PMC3581305 fatcat:55m2w7vb2rdmpdkgf6tauv3d6a

Opportunities and Challenges in Cardiovascular Pharmacogenomics

Dan M. Roden, Sara L. Van Driest, Quinn S. Wells, Jonathan D. Mosley, Joshua C. Denny, Josh F. Peterson
2018 Circulation Research  
areas of apparent divergence from disease-based genomics), a summary of lessons learned from the extensively-studied drugs clopidogrel and warfarin, the current status of implementing pharmacogenetic  ...  This review will provide an overview of the principles of pharmacogenomics from basic discovery to implementation, encompassing application of tools of contemporary genome science to the field (including  ...  and extend genetic association study results, define disease subtypes, and may also help repurpose medications. 114, 139 Genomic medicine Genomic medicine is the concept that an individual's genomic  ... 
doi:10.1161/circresaha.117.310965 pmid:29700066 pmcid:PMC5926807 fatcat:xg3bvwp5wndnrh7nzhw2dxnjme

Practical challenges in integrating genomic data into the electronic health record

Abel N. Kho, Luke V. Rasmussen, John J. Connolly, Peggy L. Peissig, Justin Starren, Hakon Hakonarson, M. Geoffrey Hayes
2013 Genetics in Medicine  
ACKNOWLEDGMENTS DISCLOSURE The authors declare no conflict of interest. REfERENCES  ...  of whether they are returned directly to the physician by a diagnostic laboratory or are the result of an interpretation by a genetic counselor.  ...  development and maintenance of a robust interface to integrate back into the EHR Investment in creation and maintenance of the ancillary storage system SNP, single-nucleotide polymorphism.  ... 
doi:10.1038/gim.2013.131 pmid:24071798 pmcid:PMC4201621 fatcat:d22hzvb3kvbt3hlv44htbg55i4

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes

Carlos J. Gallego, Caroline S. Bennette, Patrick Heagerty, Bryan Comstock, Martha Horike-Pyne, Fuki Hisama, Laura M. Amendola, Robin L. Bennett, Michael O. Dorschner, Peter Tarczy-Hornoch, William M. Grady, S. Malia Fullerton (+7 others)
2014 Contemporary Clinical Trials  
Approximately 220 patients will be randomized and followed for 12 months after return of genomic findings.  ...  clinical implementation of genomic sequencing in clinical care.  ...  for return of results by the ACMG [21] .  ... 
doi:10.1016/j.cct.2014.06.016 pmid:24997220 pmcid:PMC4175052 fatcat:rx22cccmybcdzes3ibjhxsqbdu

Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol)

2019 International Journal of Epidemiology  
The RIGHT cohort is a resource for pharmacogenomic research. 11 As part of the infrastructure, a RIGHT Data Access Committee has been created to review data requests for use of RIGHT data.  ...  External access to the data is facilitated by the Mayo Clinic Biobank 31 https://www. mayo.edu/research/centers-programs/mayo-clinic-biobank/ overview  ...  As a result of these efforts, we have recruited 11 098 patients to study pre-emptive pharmacogenomic implementation in an integrated medical system.  ... 
doi:10.1093/ije/dyz123 pmid:31378813 pmcid:PMC7124480 fatcat:vikqtxie2rft3gcttugucilvhq

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing

Matthew J. Westbrook, M. Frances Wright, Sara L. Van Driest, Tracy L. McGregor, Joshua C. Denny, Rebecca L. Zuvich, Ellen Wright Clayton, Kyle B. Brothers
2012 Genetics in Medicine  
ACKNOWLEDGMENTS DISCLOSURE The authors declare no conflict of interest.  ...  They predicted that this set of ancillary findings could pose a threat to the implementation of genomic medicine because the number of findings generated, particularly through whole-genome sequencing,  ...  We used the Genopedia tool, an online database of genomics-related articles designed and maintained by the Human Genome Epidemiology Network, to generate our initial panel of articles. 5 Inclusion and  ... 
doi:10.1038/gim.2012.147 pmid:23196672 pmcid:PMC3648626 fatcat:xigf7rokoralxiihdqdakef6ya
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