Literature DB >> 25935354

An update on the use of health information technology in newborn screening.

Swapna Abhyankar1, Rebecca M Goodwin2, Marci Sontag3, Careema Yusuf4, Jelili Ojodu4, Clement J McDonald5.   

Abstract

Newborn screening (NBS) has high-stakes health implications and requires rapid and effective communication between many people and organizations. Multiple NBS stakeholders worked together to create national guidance for reporting NBS results with HL7 (Health Level 7) messages that contain LOINC (Logical Observation Identifiers Names and Codes) and SNOMED-CT (Systematized Nomenclature of Medicine-Clinical Terms) codes, report quantitative test results, and use standardized computer-readable UCUM units of measure. This guidance (a LOINC panel and an example annotated HL7 message) enables standard HL7 v2.5.1 laboratory messages to carry the information required for reporting NBS results. Other efforts include HL7 implementation guides for reporting point-of-care (POC) NBS results as well as standardizing follow-up of patients diagnosed with conditions identified through NBS. If the guidance is used nationally, regional and national registries can aggregate results from state programs to facilitate research and quality assurance and help ensure continuity of operations following a disaster situation. Published by Elsevier Inc.

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Year:  2015        PMID: 25935354      PMCID: PMC4433800          DOI: 10.1053/j.semperi.2015.03.003

Source DB:  PubMed          Journal:  Semin Perinatol        ISSN: 0146-0005            Impact factor:   3.300


  7 in total

1.  Health information technology: revisions to initial set of standards, implementation specifications, and certification criteria for electronic health record technology. Interim final rule with request for comments.

Authors: 
Journal:  Fed Regist       Date:  2010-10-13

2.  Improving newborn screening laboratory test ordering and result reporting using health information exchange.

Authors:  Stephen M Downs; Peter C van Dyck; Piero Rinaldo; Clement McDonald; R Rodrey Howell; Alan Zuckerman; Gregory Downing
Journal:  J Am Med Inform Assoc       Date:  2010 Jan-Feb       Impact factor: 4.497

3.  Standardizing newborn screening results for health information exchange.

Authors:  Swapna Abhyankar; Michele A Lloyd-Puryear; Rebecca Goodwin; Sara Copeland; John Eichwald; Bradford L Therrell; Alan Zuckerman; Greg Downing; Clement J McDonald
Journal:  AMIA Annu Symp Proc       Date:  2010-11-13

4.  Enhancing the quality and efficiency of newborn screening programs through the use of health information technology.

Authors:  Gregory J Downing; Alan E Zuckerman; Constanze Coon; Michele A Lloyd-Puryear
Journal:  Semin Perinatol       Date:  2010-04       Impact factor: 3.300

5.  National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

Authors:  Dennis J Dietzen; Piero Rinaldo; Ronald J Whitley; William J Rhead; W Harry Hannon; Uttam C Garg; Stanley F Lo; Michael J Bennett
Journal:  Clin Chem       Date:  2009-07-02       Impact factor: 8.327

6.  Newborn screening: toward a uniform screening panel and system.

Authors: 
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

7.  Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Authors:  Raymond Y Wang; Olaf A Bodamer; Michael S Watson; William R Wilcox
Journal:  Genet Med       Date:  2011-05       Impact factor: 8.822

  7 in total
  5 in total

1.  Newborn Screening Programs and Sickle Cell Disease: A Public Health Services and Systems Approach.

Authors:  Cynthia S Minkovitz; Holly Grason; Marjory Ruderman; James F Casella
Journal:  Am J Prev Med       Date:  2016-07       Impact factor: 5.043

2.  The potential adoption benefits and challenges of LOINC codes in a laboratory department: a case study.

Authors:  Chukwuemeka Uchegbu; Xia Jing
Journal:  Health Inf Sci Syst       Date:  2017-10-11

Review 3.  The case for open science: rare diseases.

Authors:  Yaffa R Rubinstein; Peter N Robinson; William A Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M Goodwin; Stephen C Groft; Mats G Hansson; Nomi L Harris; Vojtech Huser; Deborah Mascalzoni; Julie A McMurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N Paltoo; Jonathan Pevsner; Manuel Posada; Alison P Rockett-Frase; Marco Roos; Tamar B Rubinstein; Domenica Taruscio; Esther van Enckevort; Melissa A Haendel
Journal:  JAMIA Open       Date:  2020-09-11

Review 4.  Inflammation Thread Runs across Medical Laboratory Specialities.

Authors:  Urs Nydegger; Thomas Lung; Lorenz Risch; Martin Risch; Pedro Medina Escobar; Thomas Bodmer
Journal:  Mediators Inflamm       Date:  2016-07-14       Impact factor: 4.711

5.  Early access to biological neonatal screening: coordination among child care action programs.

Authors:  Beatriz Molina Carvalho; Waldomiro Roberto Tavares; Jéssica Batistela Vicente; Gabriel Zanin Sanguino; Adriana Moraes Leite; Maria Cândida de Carvalho Furtado
Journal:  Rev Lat Am Enfermagem       Date:  2020-05-11
  5 in total

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