Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life

A happy baby

A commentary in the journal Pediatricsexternal icon calls for steps to help babies who are identified through newborn screening with a significant but treatable health condition get the lifelong care they require.

Each year, more than 13,000 newborn babies are identified with conditions such as cystic fibrosis, sickle cell disease, congenital heart defects, and hearing loss through a public health program called newborn screening. Without specialized care and treatment, these babies would face long-term disability, or even death.

Once infants are identified through the newborn screening program, they are referred to specialty doctors or other healthcare providers for evaluation and treatment. Unfortunately, some children do not make the visit to the specialty doctors and do not get the care they need.

Public health agencies have limited resources to build tracking systems that follow children identified through newborn screening beyond the initial hand-off to the doctor or other healthcare provider. Data systems that capture information on long-term care are critical to ensure the best possible outcome through the lifespan.

Types of data systems include

  • Disease tracking systems and disease-specific registries
    Disease-specific tracking systems and registries can be valuable tools for both research and improvement in healthcare quality. A shining example of this is the national patient registry for cystic fibrosis, which has contributed to dramatic improvements in life expectancy and quality of life.
  • Linkage of data across multiple systems
    Newborn screening records could be linked to vital records, healthcare-related administrative data, and educational records. This could evaluate how children with specific conditions diagnosed through newborn screening compare to other children in terms of survival and use of healthcare and special education services, which help to target early intervention and other special services to children who need them most.
  • Health information exchanges
    These could allow for the electronic sharing of information in real time across multiple health systems for all individuals with established diagnoses resulting from newborn screening. This could provide the opportunity to evaluate how treatments are working, helping to refine and revise the best treatments.

Newborn screening programs do a remarkable job of detecting babies at risk of serious health conditions, promising a life-changing opportunity for babies who would otherwise face disability or death. However, long-term surveillance is needed to ensure children identified through these screenings receive the life-changing care throughout their lives. Without continued tracking, it is likely that some children won’t get the care and treatments they need.

The question for both the public health community and doctors is, “How do we develop tracking systems to make sure that children identified through newborn screening get the follow-up care that can lead to meaningful improvements in health?”

While public health systems are working to come up with solutions, pediatricians and other doctors can work closely with affected families to provide comprehensive and coordinated care. They can also become champions for better systems of long-term follow-up care for the thousands of children identified through newborn screening.

Page last reviewed: November 6, 2019