JAMIA: Newborn screening program a test for HIE

A successful newborn screening (NBS) program depends on reliable and secure multidirectional flow of patient information among data users, as well as long-term availability of such information as life changes for the patient, according to an article in the January edition of the Journal of the American Medical Informatics Association (JAMIA).

“Capture, coding and communication of NBS information represent a challenge for public health laboratories, health departments, hospitals and ambulatory care practices,” wrote Stephen M. Downs, MD, of the Children’s Health Services Research Program at the Indiana University School of Medicine in Indianapolis, and colleagues. According to the authors, the growing need for integrated information management strategies makes NBS an important test of tools and architecture for electronic health information exchange (HIE).

“With the advent of phenylketonuria (PKU) testing in the 1960s, NBS became a highly visible success for public health,” said the authors. “[H]owever, the number and complexity of tests and the demands on results-reporting have grown to a point where communications-related failures are not uncommon events with potential dire effects for patients.”

“One of the greatest challenges to NBS programs is locating the child whose screen is abnormal, borderline or inadequate,”  the article stated. “Frequently, the child’s mother may not have identified a primary care physician yet, so the task to initiate follow-up is left to a physician affiliated with the birth hospital but [they] may have no direct knowledge of the newborn and [their] family...An HIE has the potential to deliver the NBS data to the physician who is actually caring for the infant regardless of the setting.”

The utilization of health IT could also support NBS programs to provide long-term care to affected individuals, according to the authors. “Most conditions identified through NBS are lifelong disorders that require therapies or other health considerations indefinitely....Because NBS programs are state-based [and people often move], ongoing care requires coordination and transfer of information across state lines,” said the authors.

The authors finalized and referred a NBS use case to the Health Information Standards Panel (HITSP) in December 2008 to facilitate standards harmonization for common terminology and interoperability specifications guiding HIE. The use case includes both individual patient-focused care and population health improvement consistent with the Office of the National Coordinator (ONC) for Health IT Strategic Plan, building on prior American Health Information Community (AHIC) use case standards.

“A coding and terminology framework is essential to standardizing laboratory reporting and enabling interoperability of information exchange across EHR platforms,” Downs and colleagues wrote. The use case, according to the report, calls for dual reporting of qualitative results by condition or high-level categories of conditions to simplify clinical review and separate quantitative or test-specific results.

“Taken together, the resources...provide a beginning framework for pilot implementation of newborn laboratory test result reporting through HIEs to serve expanded applications of the information in patient care, research and program evaluation,” wrote the authors.

“Implementation of interoperable electronic newborn screening laboratory reports involves more than just messaging standards and coding vocabularies,” concluded the authors. “It requires development of multiple interfaces throughout the workflow processes in the health department, hospital, clinical practices and a network to transmit data among all parties who must communicate.”

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