Public Health Perspectives on Ensuring Life Long Benefits of Newborn Screening

This blog post is a summary of a Perspective recently published in Pediatrics that was authored by Alex Kemper of Nationwide Children’s Hospital, Jeffrey Brosco of the Miller School of Medicine, University of Miami, and Coleen Boyle and Scott Grosse of CDC’s National Center on Birth Defects and Developmental Disabilities.

Newborn screening is a highly successful public health program that has led to major improvements in outcomes for a variety of genetic, metabolic and other conditions associated with long-term disability and even death. In the United States, newborn screening identifies >13 000 newborns with a significant condition each year. Most of these individuals require lifelong specialized care. However, public health involvement in newborn screening typically ends once the condition has been diagnosed. This can lead to gaps in care and impede the ability to collect the data necessary for quality improvement and assess treatment effectiveness.

Public health activities in newborn screening include choosing which conditions to screen for, implementing screening and monitoring quality, and ensuring follow-up testing and referrals after positive screen results. After referral for diagnosis, the responsibility for care rests with pediatricians and other clinicians. Unfortunately, lifelong management of rare conditions identified through newborn screening can break down at multiple points, even for conditions that have been included in newborn screening for decades.

The authors assert that there is a special obligation to the children identified through newborn screening and their families because we have decided, as public policy, that early identification is crucial. The fundamental question is how to develop systems to ensure that the public health mandate of early screening and detection for all leads to meaningful and equitable improvements in outcomes through effective and coordinated care.

One approach to improve the quality of care after newborn screening is referral to disease-specific centers of excellence. However, given the rarity of the newborn screening conditions and the small numbers of experts, ensuring ongoing access to high-quality health care can be difficult even with adequate insurance coverage. State public health agencies have a limited ability to meet these objectives because they do not usually provide care beyond certain preventive services, frequently lack the authority to collect data after diagnosis, and have limited resources to build the surveillance and tracking systems necessary for quality assurance or research. However, state public health agencies have successfully developed robust longitudinal data systems for other important public health concerns (eg, immunization registries, cancer surveillance, and infectious disease monitoring), suggesting that systems could be developed for newborn screening.

Disease-specific registries are valuable tools for both research and ongoing clinical quality improvement. The dramatic improvements in outcomes for patients with cystic fibrosis are largely due to the prospective national patient registry supported by the Cystic Fibrosis Foundation in the United States. Pharmaceutical companies have developed proprietary registries for some of the conditions recently recommended for newborn screening. These registries have made important contributions to care delivery. Although disease-specific registries can be powerful tools, their generalizability is limited if participants are not representative of the population. Registries are often expensive to maintain, with significant costs being related to ensuring data completeness and validity.

Another approach used to evaluate outcomes has been to link data across multiple settings by using existing databases. Investigators have conducted retrospective record linkages of newborn screening records to vital records, health care administrative data, and educational records. Linkages have allowed researchers to evaluate how children with specific conditions, diagnosed through newborn screening, compare with other children in survival and use of special education services associated with developmental disabilities. Such retrospective population-based analyses have documented the successful attainment of improved outcomes in many cases and have identified gaps in outcomes and opportunities for improvement in other situations.

Another approach to improve individual-level care and address the need for population-level monitoring would be through real-time linkage of health care data. Individuals with conditions identified through newborn screening receive care in multiple settings. Aggregating data from electronic medical records maintained by primary care providers, subspecialists, urgent care centers, emergency departments, and hospitals, combined with linkage to other relevant data sources (such as laboratory information systems, pharmacy dispensing data, and public health information [eg, newborn screening results and immunization registries]), could potentially support the clinical mission of long-term follow-up and facilitate prospective research. Despite significant investments in health information exchanges, which would allow data to follow individuals wherever they receive health care services, significant barriers related to cost, privacy and legal concerns, patient record matching, and data interoperability in clinical and laboratory systems remain. However, some relevant data can be linked within large health care systems (eg, health maintenance organizations and accountable care organizations). In addition, individuals can access their health care information, and systems are being developed to facilitate a consumer-mediated exchange of health information.

Newborn screening programs do a remarkable job in detecting serious conditions in otherwise asymptomatic newborns. However, a lack of comprehensive long-term follow-up care after newborn screening can lead to suboptimal outcomes. Comprehensive health care data sharing for all individuals identified with a condition through newborn screening would be ideal. In the meantime, a systematic approach that relies on registries and longitudinal data linkage can fill some of the data gaps. Public health practitioners could play a key role in facilitating long-term surveillance activities, and pediatricians and other health care providers are critical for maintaining a medical home, synthesizing relevant health care data, and working to ensure comprehensive care. Pediatricians can also encourage families to participate in registries that could improve long-term health outcomes for their own children and other similarly affected individuals.