Literature DB >> 29741693

Genomics and electronic health record systems.

Lucila Ohno-Machado1, Jihoon Kim1, Rodney A Gabriel1,2, Grace M Kuo3, Michael A Hogarth1.   

Abstract

Several reviews and case reports have described how information derived from the analysis of genomes are currently included in electronic health records (EHRs) for the purposes of supporting clinical decisions. Since the introduction of this new type of information in EHRs is relatively new (for instance, the widespread adoption of EHRs in the United States is just about a decade old), it is not surprising that a myriad of approaches has been attempted, with various degrees of success. EHR systems undergo much customization to fit the needs of health systems; these approaches have been varied and not always generalizable. The intent of this article is to present a high-level view of these approaches, emphasizing the functionality that they are trying to achieve, and not to advocate for specific solutions, which may become obsolete soon after this review is published. We start by broadly defining the end goal of including genomics in EHRs for healthcare and then explaining the various sources of information that need to be linked to arrive at a clinically actionable genomics analysis using a pharmacogenomics example. In addition, we include discussions on open issues and a vision for the next generation systems that integrate whole genome sequencing and EHRs in a seamless fashion.

Mesh:

Year:  2018        PMID: 29741693      PMCID: PMC5946823          DOI: 10.1093/hmg/ddy104

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  47 in total

1.  SMART on FHIR Genomics: facilitating standardized clinico-genomic apps.

Authors:  Gil Alterovitz; Jeremy Warner; Peijin Zhang; Yishen Chen; Mollie Ullman-Cullere; David Kreda; Isaac S Kohane
Journal:  J Am Med Inform Assoc       Date:  2015-07-21       Impact factor: 4.497

Review 2.  Electronic Medical Record-Integrated Pharmacogenomics and Related Clinical Decision Support Concepts.

Authors:  P J Caraballo; S J Bielinski; J L St Sauver; R M Weinshilboum
Journal:  Clin Pharmacol Ther       Date:  2017-05-26       Impact factor: 6.875

3.  Computerized prescriber order entry-related patient safety reports: analysis of 2522 medication errors.

Authors:  Mary G Amato; Alejandra Salazar; Thu-Trang T Hickman; Arbor Jl Quist; Lynn A Volk; Adam Wright; Dustin McEvoy; William L Galanter; Ross Koppel; Beverly Loudin; Jason Adelman; John D McGreevey; David H Smith; David W Bates; Gordon D Schiff
Journal:  J Am Med Inform Assoc       Date:  2017-03-01       Impact factor: 4.497

4.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

5.  Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing.

Authors:  K E Caudle; A E Rettie; M Whirl-Carrillo; L H Smith; S Mintzer; M T M Lee; T E Klein; J T Callaghan
Journal:  Clin Pharmacol Ther       Date:  2014-08-06       Impact factor: 6.875

6.  Cohort Profile: The Framingham Heart Study (FHS): overview of milestones in cardiovascular epidemiology.

Authors:  Connie W Tsao; Ramachandran S Vasan
Journal:  Int J Epidemiol       Date:  2015-12       Impact factor: 7.196

7.  Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.

Authors:  Rajarshi Ghosh; Ninad Oak; Sharon E Plon
Journal:  Genome Biol       Date:  2017-11-28       Impact factor: 13.583

8.  ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

Authors:  Bruce D Gelb; Hélène Cavé; Mitchell W Dillon; Karen W Gripp; Jennifer A Lee; Heather Mason-Suares; Katherine A Rauen; Bradley Williams; Martin Zenker; Lisa M Vincent
Journal:  Genet Med       Date:  2018-03-01       Impact factor: 8.822

Review 9.  A Review on Genomics APIs.

Authors:  Rajeswari Swaminathan; Yungui Huang; Soheil Moosavinasab; Ronald Buckley; Christopher W Bartlett; Simon M Lin
Journal:  Comput Struct Biotechnol J       Date:  2015-10-31       Impact factor: 7.271

10.  DGIdb 3.0: a redesign and expansion of the drug-gene interaction database.

Authors:  Kelsy C Cotto; Alex H Wagner; Yang-Yang Feng; Susanna Kiwala; Adam C Coffman; Gregory Spies; Alex Wollam; Nicholas C Spies; Obi L Griffith; Malachi Griffith
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

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  10 in total

1.  The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities.

Authors:  Lauren J Beesley; Maxwell Salvatore; Lars G Fritsche; Anita Pandit; Arvind Rao; Chad Brummett; Cristen J Willer; Lynda D Lisabeth; Bhramar Mukherjee
Journal:  Stat Med       Date:  2019-12-20       Impact factor: 2.373

Review 2.  Electronic health records and polygenic risk scores for predicting disease risk.

Authors:  Ruowang Li; Yong Chen; Marylyn D Ritchie; Jason H Moore
Journal:  Nat Rev Genet       Date:  2020-03-31       Impact factor: 53.242

3.  Adolescent perceptions of pharmacogenetic testing.

Authors:  Stephani L Stancil; Courtney Berrios; Susan Abdel-Rahman
Journal:  Pharmacogenomics       Date:  2021-04-14       Impact factor: 2.533

Review 4.  Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine.

Authors:  Deirdre P Campion; Fiona J Dowell
Journal:  Front Vet Sci       Date:  2019-02-11

5.  Healthcare Associated Infections: An Interoperable Infrastructure for Multidrug Resistant Organism Surveillance.

Authors:  Roberta Gazzarata; Maria Eugenia Monteverde; Carmelina Ruggiero; Norbert Maggi; Dalia Palmieri; Giustino Parruti; Mauro Giacomini
Journal:  Int J Environ Res Public Health       Date:  2020-01-10       Impact factor: 3.390

6.  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.

Authors:  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; Chunhua Weng; Robb K Rowley; Georgia L Wiesner; Gail P Jarvik; Guilherme Del Fiol
Journal:  Front Genet       Date:  2019-10-29       Impact factor: 4.599

7.  Environmental scan of family chart linking for genetic cascade screening in a U.S. integrated health system.

Authors:  Cameron B Haas; James Ralston; Stephanie M Fullerton; Aaron Scrol; Nora B Henrikson
Journal:  Front Genet       Date:  2022-08-11       Impact factor: 4.772

Review 8.  Integrating Somatic and Germline Next-Generation Sequencing Into Routine Clinical Oncology Practice.

Authors:  J Kevin Hicks; Rachel Howard; Phillip Reisman; Jacob J Adashek; Karen K Fields; Jhanelle E Gray; Bryan McIver; Kelly McKee; Mandy F O'Leary; Randa M Perkins; Edmondo Robinson; Ankita Tandon; Jamie K Teer; Joseph Markowitz; Dana E Rollison
Journal:  JCO Precis Oncol       Date:  2021-05-20

Review 9.  Non-Small Cell Lung Cancer from Genomics to Therapeutics: A Framework for Community Practice Integration to Arrive at Personalized Therapy Strategies.

Authors:  Swapnil Rajurkar; Isa Mambetsariev; Rebecca Pharaon; Benjamin Leach; TingTing Tan; Prakash Kulkarni; Ravi Salgia
Journal:  J Clin Med       Date:  2020-06-15       Impact factor: 4.241

Review 10.  A Systematic Review of Network Studies Based on Administrative Health Data.

Authors:  Shakir Karim; Shahadat Uddin; Tasadduq Imam; Mohammad Ali Moni
Journal:  Int J Environ Res Public Health       Date:  2020-04-09       Impact factor: 3.390

  10 in total

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