Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information Technology

doi:10.1053/j.semperi.2009.12.005

Seminars in Perinatology

Volume 34, Issue 2, April 2010, Pages 156-162

https://doi.org/10.1053/j.semperi.2009.12.005 Get rights and content

A variety of efforts are underway at national, state, regional, and local levels to enhance the performance of programs for early detection of inherited diseases and conditions of newborn infants. Newborn screening programs serve a vital purpose in identifying nonsymptomatic clinical conditions and enabling early intervention strategies that lessen morbidity and mortality. Currently, the programs of most intense focus are early hearing detection and intervention, using physiological techniques for audiology screening and use of newborn dried blood spots for detection of metabolites or proteins representing inherited disorders. One of the primary challenges to effective newborn screening programs to date has been the inability to provide information in a timely and easily accessible way to a variety of users. Other challenging communication issues being faced include the complexity introduced by the diversity of conditions for which testing is conducted and laboratory methods being used by each state's screening programs, lack of an electronic information infrastructure to facilitate information exchange, and variation in policies that enable access to information while protecting patient privacy and confidentiality. In this study, we address steps being taken to understand these challenges, outline progress made to date to overcome them, and provide examples of how electronic health information exchange will enhance the utility of newborn screening. It is likely that future advances in science and technology will bring many more opportunities to prevent and preempt disabilities among children through early detection programs. To take their advantage, effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision-making throughout prenatal, newborn, and early childhood periods of patient care.

Section snippets

Prospects for Improving Communication Processes and Clinical Decision-Making in Newborn Screening

Newborn discharge from the hospital represents the first transfer of care and is a critical time for coordination of care for infants with inherited and congenital conditions. Although most genetic conditions detected in newborns are rare and may be seen only once in a career by most primary care physicians, it is essential that the information from the newborn screen follows the infant in a longitudinal manner. In addition, it is easy for an infant to miss newborn screening when sick or when

Steps to Enhance the Information Exchange for Newborn Screening

Momentum has been gaining to enable information about newborn screening test results to be managed electronically. In 2007, steps were initiated at the federal level to prioritize information exchange for newborn screening test results for standards harmonization that enable information from various laboratory and patient care information systems to be interoperable.¹² Following this work, interoperability specifications have been developed that enable developers of health information

Demonstrating the Value of Integrated Health Information in Newborn Screening: Case Studies on the Management of Maternal Phenylketonuria (PKU) and Sickle Cell Disease (SCD)

Inability to access critical clinical information presents a significant problem in the management of patients who require close monitoring during pregnancy.¹⁸ In looking to the future, health information technology will enable interactive exchanges among the patients, primary care physicians, and specialists.

One approach to demonstrate the clinical value of integrated health information in this setting is to provide an example of a complex obstetrical and pediatric case, such as a pregnancy

Conclusions

In looking to the future, opportunities for implementing newborn screening programs will continue to proliferate but will be constrained in their effectiveness and limited by costs without the ability to integrate, deliver, and apply information across an increasingly decentralized health care delivery setting. The implications of the policy and infrastructure development today will be reflected in the years to come by new and more effective communications among clinicians and with patients.

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Cited by (22)

The use of model constructs to design collaborative health information technologies: A case study to support child development
2018, Journal of Biomedical Informatics
Citation Excerpt :
Health information technology (HIT) has the potential to improve the effectiveness and efficiency of collaborative work throughout the community. By providing a common platform for efficiently sharing information, HIT could facilitate collaboration between child development stakeholders [23–27], and has the potential to bridge professional gaps in the care of chronic diseases [4,7,28,29]. Researchers have noted that collaboration is a complex and nuanced phenomenon [4], however, and work is needed to understand how collaboration is expressed in different care contexts to inform the design of collaborative systems.
Health information technology could provide valuable support for inter-professional collaboration to address complex health issues, but current HIT systems do not adequately support such collaboration. Existing theoretical research on supporting collaborative work can help inform the design of collaborative HIT systems. Using the example of supporting collaboration between child development service providers, we describe a deductive approach that leverages concepts from the literature and analyzes qualitative user-needs data to aid in collaborative system design.
We use the Collaboration Space Model to guide the deductive qualitative analysis of interviews focused on the use of information technology to support child development. We deductively analyzed 44 interviews from two separate research initiatives and included data from a wide range of stakeholder groups including parents and various service providers. We summarized the deductively coded interview excerpts using quantitative and qualitative methods.
The deductive analysis method provided a rich set of design data, highlighting heterogeneity in work processes, barriers to adequate communication, and gaps in stakeholder knowledge in supporting child development work.
Deductive qualitative analysis considering constructs from a literature-based model provided useful, actionable data to aid in design. Design implications underscore functions needed to adequately share data across many stakeholders. More work is needed to validate our design implications and to better understand the situations where specific system features would be most useful.
Deductive analysis considering model constructs provides a useful approach to designing collaborative HIT systems, allowing designers to consider both empirical user data and existing knowledge from the literature. This method has the potential to improve designs for collaborative HIT systems.
Newborn screening programs and sickle cell disease: A public health services and systems approach
2016, American Journal of Preventive Medicine
Despite universal newborn screening (NBS), children in the U.S. continue to experience morbidity and mortality from sickle cell disease and related causes. Recognizing that assessments of public health services and systems can improve public health system performance and ultimately health outcomes, this study examined variations in NBS program activities for sickle cell disease.
A mixed methods study included (1) a 2009 survey of NBS programs based on ten essential public health services (N=39 states with ten or more sickle cell births over a 3-year period) and (2) key informant interviews in 2011 with 13 states that had sufficient Phase 1 survey scores, black births, and variability in state legislation and geography. Key informants were from 13 NBS programs, 22 sickle cell treatment centers, and ten advocacy organizations. Analyses were conducted in 2009–2014.
Considerable variability exists across states in program activities and roles. More programs reported activities oriented to care of individuals—ensuring access to services, coordination, and provider education; fewer reported planning and analysis activities oriented to statewide policy development and system change. Numbers of activities were not related to the number of affected births. In-depth interviews identified opportunities to enhance activities that support statewide comprehensive systems of care.
NBS programs perform important public health roles that complement and enhance clinical services. Nationwide efforts are needed to enable NBS programs to strengthen population-based functions that are essential to ensuring quality of care for the entire population of children and families affected by sickle cell disease.
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: A retrospective analysis of diagnostic and clinical findings
2015, The Lancet Respiratory Medicine
Citation Excerpt :
A major goal in future studies of rapid genome sequencing in NICUs will be patient ascertainment and enrolment at symptom onset to maximise the interval for implementation of precision medicine. A genetic diagnosis that confers a dire prognosis can empower early discussions with the infant's parents about palliative care to minimise suffering.33 End-of-life decisions are common in neonatal genetic diseases, with the primary cause of most deaths being withdrawal or withholding of care.10
Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute clinical management. We used rapid whole-genome sequencing (STATseq) in a level 4 NICU and PICU to assess the rate and types of molecular diagnoses, and the prevalence, types, and effect of diagnoses that are likely to change medical management in critically ill infants.
We did a retrospective comparison of STATseq and standard genetic testing in a case series from the NICU and PICU of a large children's hospital between Nov 11, 2011, and Oct 1, 2014. The participants were families with an infant younger than 4 months with an acute illness of suspected genetic cause. The intervention was STATseq of trios (both parents and their affected infant). The main measures were the diagnostic rate, time to diagnosis, and rate of change in management after standard genetic testing and STATseq.
20 (57%) of 35 infants were diagnosed with a genetic disease by use of STATseq and three (9%) of 32 by use of standard genetic testing (p=0·0002). Median time to genome analysis was 5 days (range 3–153) and median time to STATseq report was 23 days (5–912). 13 (65%) of 20 STATseq diagnoses were associated with de-novo mutations. Acute clinical usefulness was noted in 13 (65%) of 20 infants with a STATseq diagnosis, four (20%) had diagnoses with strongly favourable effects on management, and six (30%) were started on palliative care. 120-day mortality was 57% (12 of 21) in infants with a genetic diagnosis.
In selected acutely ill infants, STATseq had a high rate of diagnosis of genetic disorders. Most diagnoses altered the management of infants in the NICU or PICU. The very high infant mortality rate indicates a substantial need for rapid genomic diagnoses to be allied with a novel framework for precision medicine for infants in NICU and PICU who are diagnosed with genetic diseases to improve outcomes.
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, and National Center for Advancing Translational Sciences.
An update on the use of health information technology in newborn screening
2015, Seminars in Perinatology
Citation Excerpt :
In cases where dried blood spot result ranges differ from the usual serum results familiar to primary care physicians, minimal educational information delivered with the results should assist them in result interpretation. Furthermore, we encourage NBS laboratories to report all quantitative results (not just interpretations) and appropriate accompanying explanatory information to the NBS follow-up programs so information can be maintained for comparison over time.3 Considering that many states share a regional laboratory or use the same laboratory information management systems (LIMS) software, there is an opportunity for states to share their HIT adoption methods with other programs to reduce costs.
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.
The otolaryngologist's role in newborn hearing screening and early intervention
2014, Otolaryngologic Clinics of North America
Citation Excerpt :
ENT may also help with appropriate referrals for diagnostic services in collaboration with the medical home provider. Effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision making throughout prenatal, newborn, and early childhood periods of patient care.86 State health departments are usually in the position of development and management of hospital-based screening programs, and are often instrumental in follow-up and referrals.
Including the initial newborn screening bloodspot collection device serial number on birth certificates: Basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children
2013, Genetics in Medicine
Purpose: We provide background information/education for national recommendations to include initial newborn screening dried bloodspot serial numbers in electronic birth registrations. Mutual data linking would provide quality checks for each data source, determinations of percentages of newborns screened, and identification of locations where screening is lacking.
Methods: State newborn screening dried bloodspot programs were surveyed to determine the extent of newborn screening dried bloodspot and electronic birth registration linking and the states’ level of interest in such linkages. These data were reviewed with federal and state policy makers and presented to the Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children for national policy recommendations.
Results: Only 40% of state newborn screening dried bloodspot programs reported comparing births with screens. All states use serially numbered newborn screening dried bloodspot collection cards, and electronic birth registrations exist in almost all states. Newborn screening dried bloodspot serial number data fields currently exist in only 24% of state electronic birth registrations.
Conclusion: The Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children recommends the universal use of the newborn screening dried bloodspot serial number in a standardized format as part of state birth registration; consideration of including the initial newborn screening dried bloodspot serial number as a required data field; and, once established, using these data linkages to monitor completeness of newborn screening and to validate demographic information in both systems.
Genet Med 2013:15(3):229–233

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Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information Technology

Section snippets

Prospects for Improving Communication Processes and Clinical Decision-Making in Newborn Screening

Steps to Enhance the Information Exchange for Newborn Screening

Demonstrating the Value of Integrated Health Information in Newborn Screening: Case Studies on the Management of Maternal Phenylketonuria (PKU) and Sickle Cell Disease (SCD)

Conclusions

J Am Med Inform Assoc

J Am Med Inform Assoc

Newborn screening: Current status

Health Aff Millwood

Newborn screening: toward a uniform screening panel and system

Genet Med

Nationwide Health Information Network (NHIN): background and scope

Advancing patient-centered pediatric care through health information exchange: update from the American Health Information Community Personalized Health Care Workgroup

Pediatrics

American Recovery and Reinvestment Act of 2009

Newborn screening ACT sheets and confirmatory algorithms

Pioneering HHS HRSA Grant Funds Establishment of First National Newborn Screening Clearinghouse