Lab Matters Winter 2017 | Page 22

newborn screening and genetics

New Tools for Expanding Health Information Technology in Newborn Screening

by Brendan Reilly , program specialist , Laboratory Services-Biochemistry & Genetics Branch , Texas Department of State Health Services ; Joshua Miller , MPH , senior professional research assistant , Colorado School of Public Health ; and Riki Merrick , MPH , lead terminologist , Informatics
The goal of newborn screening ( NBS ) is to screen every baby born in the US to identify specific genetic and congenital disorders as fast as possible after the child is born and allow for intervention before the condition can cause irreparable harm . Since the inception of NBS for phenylketonuria in the 1960s , an array of healthcare focused groups , which make up an NBS system , have endeavored to identify new and innovative ways of improving all aspects of this essential public health service .

While newborn screening has expanded to a panel of over 50 disorders , exponential technological growth has provided many opportunities for the implementation of Health Information Technology ( HIT ) solutions . These solutions can assist programs with expediting NBS processes , managing immense quantities of data and maximizing the benefits of testing . Laboratories , follow up programs and vendors have developed and implemented complex laboratory information systems and follow-up applications while exploring the use of web portals , health information exchanges , optical character recognition and the storage and transfer of large quantities of data utilizing data standards such as Logical Observation Identifiers Names and Codes ( LOINC ), Systematized Nomenclature of Medicine ( SNOMED ), and Health Level 7 ( HL7 ).

HL7 Implementation in Texas
The NBS community has long recognized that carefully implemented electronic order and results interfaces can assist stakeholders in refining systems , standardizing methods , creating uniformity in communications and improving patient outcomes . The Texas NBS Program implemented bidirectional HL7 interfacing in 2007 and has since expanded the initiative to partner with over 40 birthing hospitals . Texas estimates they have exchanged orders and results for over 450,000 specimens and received an additional 170,000 electronic orders via web portal . This translates to an estimated savings of over 10,000 hours in manual data entry and $ 250,000 in mailing and printing costs . Due to the requirement by electronic systems for valid entry of key data elements , Texas estimates over 6,000 specimens per year could be processed 24 to 48 hours earlier than if received with a hand completed demographic form that was missing or contained invalid information . From the hospital standpoint , each of these result sets directly populated the hospital information system within 24 hours of reporting , seven days a week , eliminating the time , staffing and potential for error required for mailing , receiving and transcribing .
However , over the years , NBS systems , including Texas , have struggled to expand usage of rapidly evolving standards-based electronic information exchange technologies while managing the ever expanding scope of disorders screened and the implementation of new testing technologies . To assist NBS systems with removing barriers hindering these technological advances , the Newborn Screening Technical Assistance and Evaluation Program ( NewSTEPs ) has initiated a series of HIT projects .
LAB MATTERS Winter 2017
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