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Following Up on the Promise of Newborn Screening

A Message from Patricia Finnerty, MS
Senior Project Manager and CYSHCN Operational Lead

December 2012

2013 will mark the 50th anniversary of one of the most successful public health services in US history: newborn screening. In 1963, following the invention of a vastly improved test to detect Phenylketonuria (PKU) in infants, Massachusetts became the first state to mandate screening. Health professionals recognized that diagnosing this condition at birth would help affected families access the necessary information and treatment to prevent developmental delays and intellectual disabilities in their newborn. In the years that followed, screening was expanded to include many other conditions to connect families with the early intervention services that can make all the difference. Today, newborn screening efforts reach almost every child born in the U.S and are estimated to save the lives of more than 12,000 babies each year.

The goal of newborn screening is to improve health outcomes for infants identified through the program. However, screening alone does not accomplish this goal. When children screen positive for a condition, families then need accurate information about the condition and access to appropriate follow-up care. This process is more complicated. It requires collaboration and effective and timely information sharing among public health agencies, state newborn screening labs, families and clinicians. Unfortunately, these follow-up systems are often underfunded, they do not happen at the same level of reliability as the initial screening, and families of infants identified through screening are too frequently not connected to the long term follow-up they need. We have an obligation to these children and families to improve these follow-up processes. As Dr. David Hall said to the U.S. Task Force on Newborn Screening, “If it is important enough to screen for, it is important enough to follow-up.”

This is the common denominator in my work at NICHQ. The projects I work on build collaborative networks to improve the system of follow-up care for two conditions identified through newborn screening – hearing loss and sickle cell disease. The improvements from these projects are helping state agencies accomplish the ultimate goal of the newborn screening program – that every child identified through screening reaches their optimal health.

The system for identifying, diagnosing and then linking a child with hearing loss to intervention services is complex for both families and clinicians to navigate, often resulting in delays in diagnosis and intervention and children being lost to follow-up. These delays can have a significant impact on speech and language skills. NICHQ’s Improving Hearing Screening and Intervention Systems (IHSIS) learning collaborative is working with 31 states and territories to test and implement new ways to improve the quality, timeliness and documentation of follow-up diagnosis and early intervention services for children who fail their initial hearing screening test. Using quality improvement techniques, participating teams have improved information sharing and collaboration through the use of fax-back forms and data exchange and have enhanced support of families through reminder phone calls, standardized communication, translation of resources, and family-to-family support.

Similar issues and innovations are being addressed by network teams in NICHQ’s Working to Improve Sickle Cell Healthcare (WISCH) program. WISCH teams are working to develop reliable processes to ensure that individuals who screen positive for sickle cell disease (SCD) and sickle cell trait receive genetic counseling, education, and high quality follow-up care – not just immediately following screening, but across their lifespan. Screening for SCD was recommended so that children identified with SCD could receive penicillin and vaccinations to reduce the risk of life-threatening infections. However, evidence now suggests that not all children with SCD are prescribed penicillin, and those that are might not always take it consistently. WISCH teams are testing promising changes such as texting and GlowCap pill bottles to improve the use of penicillin and other well-established therapies.

The innovations that teams in the IHSIS and WISCH projects are testing have the potential to transform systems of care for people with hearing loss and sickle cell disease. But we shouldn’t stop there. 50 years after the introduction of PKU screening, many families still struggle to pay for the food their children need to prevent disability. The use of proven therapies for SCD continue to be widely under used and the cost of hearing aids can limit affordable options for individuals with hearing loss. It is essential that we continue to learn from the work in hearing loss and sickle cell disease to help accelerate access to a coordinated system of care that effectively meets the needs of all patients and families.

This month let’s celebrate the 50th anniversary of newborn screening and all those who do their part to make the program a success – hospital screeners who conduct the tests, state lab employees who process and communicate the results, providers who ensure follow-up and the families who learn how to navigate a complex healthcare system to get their children the care they need. But let’s also continue to drive change and improvement to strengthen and standardize the program, foster collaboration, and ensure that every child identified through screening receives the care they need to reach their optimal health and full potential. An effective screening program is a two-step process: diagnosis and then follow-up. It’s time for us to completely fulfill the promise of the program begun 50 years ago by ensuring all children receive appropriate follow-up care and services.

- Tricia

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