by Sapna Kundra, MPH, writer
In laboratory newborn screening programs, the primary focus is on the test itself. What happens after the test is up to the follow-up program, an essential component of the newborn screening process that ensures confirmation or rule-out of a diagnosis and that all newborns with a confirmed diagnosis are in the care of an appropriate specialist.
At the APHL 2020 Newborn Screening Virtual Symposium last week, a panel of follow-up professionals discussed not only the value of the programs’ work but also some of the challenges and questions that surround their work. Unlike many other public health programs, there are no national guidelines or standards that state newborn screening follow-up programs must follow. While all follow-up programs can agree that their ultimate goal is to provide the best possible intervention for babies, doing so without minimal standards is a challenge and necessitates these conversations among colleagues.
When it comes to newborn screening follow-up, a lack of national regulations can limit the uniformity of practice across state-based programs. At the same time, the imposition of minimal standards could challenge programs that already lack resources, making it difficult for them to keep up.
During her presentation at the APHL 2020 Newborn Screening Virtual Symposium, Carol Johnson, newborn screening follow-up coordinator at the University of Iowa Hospitals and Clinics, described a team led by follow-up, laboratory, health information technology, quality assurance and systems experts that initiated a national conversation to consider establishing consensus-based minimal standards for newborn screening follow-up. Johnson elaborated on the pros and cons of this approach, highlighting that the lack of cohesive and uniform definitions and standard operating procedures for follow-up leaves programs with little external impetus to track current practices or make needed improvements.
As Johnson concluded her presentation, an enthusiastic discussion between participants and panelists marked a memorable stepping stone in advancing the national discourse around this important topic. Additional speakers on the session panel reinforced the value of information sharing as they communicated state-specific practices that have allowed them to implement quality improvements within their respective follow-up systems.
Isabel Hurden, an epidemiologist within the Michigan Department of Health and Human Services, followed with a presentation on their follow-up program’s approach to false-positive cystic fibrosis screening results. In 2009, Michigan enhanced its cystic fibrosis screening protocol to reduce false-positives by introducing mutation detection technology. Under the new protocol, infants with slightly out-of-range results and no mutation detected were no longer referred for additional testing but the primary care provider would be notified should symptoms appear later.
The Michigan follow-up program performed a survey of clinicians following its change in order to better understand how the updated results notification system might impact families. The intent was to determine whether physicians felt families should be notified of a first abnormal screen result that was coupled with a second screen revealing no mutations for cystic fibrosis, a combination of results that would typically indicate it was extremely unlikely that their child had cystic fibrosis.
Clinicians who supported family notification hoped to preserve parents’ right to know despite no immediate action being needed. Those opposed to notification hoped to avoid the unnecessary worry that parents may feel. Prompted by survey analysis, the Michigan follow-up program developed a notification letter for parents that both informs and educates them on the results, and is aimed at empowering them with knowledge while reassuring them and minimizing unnecessary concern.
While short-term follow-up is clearly valuable in supporting the care of a potentially at-risk infant, long-term follow-up efforts have proven valuable to newborn screening programs at a higher level. In 2013, three years before it was added to the RUSP, New York began screening for x-ALD. The addition of x-ALD brought some controversy as it was unknown if interventions were as widely effective as is expected of newborn screening conditions.
In order to learn how the long term effects of newborn screening and early interventions for x-ALD, Beth Vogel, a genetic counselor in the New York State Department of Health, and her team conducted a study on extended short-term follow-up for this disorder. The retrospective study allowed the newborn screening program to identify clinical outcomes for babies who were diagnosed with a confirmed case of x-ALD. Vogel presented these results, which reinforced that x-ALD newborn screening has been a successful initiative, with surveillance strategies becoming possible due to positive screen notifications to families. For disorders with late onset such as x-ALD, ongoing surveillance is imperative, and the baseline data from New York promotes the benefits of newborn screening for this disorder and others like it. Studies such as the one described by Vogel serve as potential models for collecting long term follow-up data at a national level.
As presenters discussed, it is important to explore and identify the opportunities to enhance short- and long-term follow-up in newborn screening to improve outcomes. Establishing minimal standards may help inform benchmarks for continuous quality improvement and program strengthening.
Sapna Kundra, MPH, is a freelance writer with an expertise in global public health systems strengthening.
APHL 2020 Newborn Screening Virtual Symposium is being held online October 20-November 12, 2020. View the final program and follow #APHLNBS to join the conversation.