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

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New therapies are constantly being developed, with dozens of new treatments expected to be approved over the next decade. What is not evolving as quickly is the ability to deliver these therapies in a timely manner to children who need them most because newborn assessments have failed to identify the conditions that they are supposed to process.

Newborn screening tests (NBS) are used to screen for around 35 major disorders at birth, but many new treatments target disorders that are not included in screening and therefore go untreated.

In a recent report published in Opening of the JAMA network, industry experts point to the need for better screening tools that offer faster review and implementation of standards as new treatments are developed. .

“NBS will soon have 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, Distinguished Genomics Researcher, Bioinformatics and translational. RTI International Research Center in Research Triangle, North Carolina. “While each poses a different set of challenges, they are inextricably linked and the system-level changes needed are similar. We chose to focus on the processing side of things, to limit the discussion.

A new screening tool is essential to address the large “growing pipeline” of new treatments already in development at 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 typically include about 30 disorders that can appear at birth and benefit from early treatment. However, the new report argued that these recommendations are not keeping pace with new therapies and, therefore, there are missed opportunities for meaningful intervention.

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

The article provided a significant example in the case of 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 has likely passed in infants when this condition could have potentially benefit from screening for this disorder at birth.

“Disorders that previously lacked treatment may soon be the focus of meaningful curative or disease-modifying interventions,” the report authors noted. “Their effectiveness will almost certainly be maximized if provided early, highlighting the need for early screening and diagnosis.”

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

“Families, patient advocacy groups and clinicians are frustrated with what they see as an unnecessarily long decision-making and implementation process resulting in preventable death, disability or a lifetime of necessary care” , notes the report. “Policy makers, on the other hand, fear adding new disorders without adequate evidence. Moreover, most state NBS labs cannot add new disorders without the necessary legislative approval, funding, and time. to ensure proper implementation.

The problem, however, is that most newborn assessments aren’t thorough enough to identify the needs that many of these new therapies might address. Some of these challenges that new therapies could pose for testing are that many of them will require some form of genetic testing and ultimately genome sequencing.

“These potential new technologies would require a major shift in testing methods for most states,” Bailey said.

The program needs a substantial overhaul, the report continues, because its current configuration is that of a loosely interconnected network of independent state programs. As new therapies evolve, this system is not equipped to easily adapt to changes and updates. The document stops short of suggesting a better system, but spells out the urgent need to develop a more responsive next-gen system. The report’s authors call for things like deep stakeholder engagement, cooperation from federal and state agencies, and national legislation to develop a new testing system.

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

“Paediatricians could potentially care for more children with rare diseases who need specialist treatment,” he said. “Although some of these treatments will need to be provided in a specialist clinic, pediatricians will always be the most trusted source of information for families.”

Reference

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