newborn screening and genetics

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 .

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 .