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Experts call for better newborn screening to take advantage of novel therapies

Many new therapies have been developed over the past decade to treat disorders that are often present at birth and early treatment can lead to better outcomes. However, the screenings for newborns have been slow to adapt.

Novel therapies are constantly being developed—with dozens of new treatments predicted for approval over the next decade. What isn’t moving as quickly is the ability to offer these therapies in a timely way to the children who need them most because newborn assessments failed to identify the conditions they are designed to treat.

Newborn screening (NBS) tests are used to screen for about 35 core disorders at birth, but many novel treatments target disorders that are not included in the screening and go untreated as a result.

In a recent report published in JAMA Network Open, industry experts highlight the need for better screening tools that offer quicker review and implementation of standards as novel treatments are developed.1 The study called for significant changes to current screening tools, as well as an overhaul of the way new disorders are added to these assessments.

“NBS will soon need to adapt to 2 major forces—advanced technologies such as genome sequencing, and a new generation of therapies,” said lead author Donald B. Bailey Jr., PhD, a distinguished fellow in the Genomics, Bioinformatics, and Translational Research Center at RTI International in Research Triangle, North Carolina. “Although each poses a different set of challenges, they are inextricably linked and the needed system-level changes are similar. We chose to focus on the treatment side of things, to limit the discussion.”

A new screening tool is critical to address the large and “growing pipeline” of novel treatments already in development across many different companies, Bailey added.

The current NBS tool is really just a recommendation created jointly by the US Department of Health and Human Services Recommended Uniform Screening Panel (RUSP) and the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). States use this guidance to create their own screening tools, which generally include about 30 disorders that may appear at birth and benefit from early treatment. However, the new report argued that these recommendations aren’t keeping pace with novel therapies, and as a result there are missed opportunities for meaningful intervention.

Only 6 new disorders have been added to the RUSP/ACHDNC recommendations since 2006. Part of the problem, the report notes, is that even with the shortest timeline, it takes about 2 years for new conditions to be considered, reviewed, and recommended by the panel. After that step, it takes states about 3 to 5 years on average to add those recommendations to their screening tools.

The paper provided a significant example in the case of a treatment for spinal muscular atrophy. Nusinersen was first suggested to the RUSP/ACHDNC organization in 2008, but was not recommended until 2018. This means that more than a decade likely passed when infants when this condition could have potentially benefitted from including a screening for this disorder at birth.

“Disorders previously lacking treatments could soon have interventions that are curative or significantly disease-modifying,” the report authors noted. “Their efficacy almost certainly will be maximized if provided early, underscoring the necessity of early screening and diagnosis.”

Even if a national recommendation is made more quickly, the report authors argued that it sometimes takes states several years more to add these screenings to their own assessments—if they are added at all.

“Families, patient advocacy groups, and clinicians are frustrated by what they consider an unnecessarily long process of decision-making and implementation, resulting in preventable death, disability, or a lifetime of needed care,” the report noted. “Policy makers, on the other hand, are concerned about adding new disorders without adequate evidence. Additionally, most state NBS laboratories cannot add new disorders without legislative approval, funding, and time to ensure adequate implementation.”

The problem, however, is that most newborn assessments don’t look deeply enough to identify the needs that many of these novel therapies could treat. Some of these challenges new therapies could pose in regard to screening is that many of them will require some form of genetic testing and ultimately genome sequencing.

“These would-be new technologies that would require a major shift in screening methods for most states,” Bailey said.

The program needs a substantial overhaul, the report continues, since its current setup is that of a loosely interconnected web of independent state programs. As new therapies evolve, this system is not equipped to be able to readily adapt to changes and updates. The paper stops short of suggesting a better system, but spells out the urgent need to develop a more responsive, next-generation system. The report authors call for things like extensive stakeholder engagement, the cooperation of federal and state agencies, and national legislation in developing a new screening system.

The main goal of establishing a new system for creating and updating guidelines would be to ultimately bring the benefits of new treatments to babies who need them more quickly, Bailey explained.

“Pediatricians could potentially be caring for more children with rare disorders who need specialized treatments,” he said. “Although some of these treatments will need to be provided at a specialty clinic, pediatricians will always remain the most trusted source of information for families.”

Reference

1. Bailey DB, Porter KA, Andrews SM, Raspa M, Gwaltney AY, Peay HL. Expert evaluation of strategies to modernize newborn screening in the United States. JAMA Netw Open. 2021;4(12):e2140998. doi:10.1001/jamanetworkopen.2021.40998