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Pace of transformative therapies to overwhelm newborn screening process; experts propose innovations

February 24, 2022
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There has been explosive growth in the number of transformative therapies developed for diseases that must be provided to patients early in life. This makes the need for expanded and updated newborn screening nationwide, which has not kept pace with these medical breakthroughs, more important than ever.

The current status of newborn screening

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), which advises the Recommended Uniform Screening Panel (RUSP), has only recommended six new disorders to be added to the RUSP since it was established in 2006.

Once an effective therapy is discovered, in addition to extensive natural history, screening methods, follow-up protocols, and long-term outcomes, it takes years of work to have a disease nominated for the years-long RUSP recommendation process. State implementation of the recommendation can take another 3-5 years, at minimum.

One example is spinal muscular atrophy, which was first nominated in 2008, but was not approved for the RUSP until 2018 after the benefits of nusinersen had been demonstrated.

The number of transformative treatments is growing dramatically, with projections of at least 60 cell and gene therapy approvals by 2030 and hundreds more under investigation. 

“Disorders previously lacking treatments could soon have interventions that are curative or significantly disease modifying,” cited a recent article in JAMA Netw Open, titled “Expert Evaluation of Strategies to Modernize Newborn Screening in the United States.”

“Their efficacy almost certainly will be maximized if provided early, underscoring the necessity of early screening and diagnosis,” said the authors.

Experts weigh in on evolving newborn screening

The “Expert Evaluation of Strategies to Modernize Newborn Screening in the United States” article’s experts came together to evaluate strategies for how to modernize newborn screening in the United States so it keeps pace with the rapid increase in available therapies for diseases.

In the article, 40 experts in newborn screening evaluated 20 potential solutions. The highest-rated solutions they brought forth “addressed cross-state variability, national harmonization, data needed for clinical and policy decisions, and support to expedite state implementation.”

The entire group voiced that substantial change is needed to prepare the nation’s newborn screening system (NBS) for rapid expansion of novel therapies, such as cell and gene therapies. Interestingly, 45.0% of the experts believe the NBS would need many new components or an entirely new system to accommodate the changes.

Opportunities for change

NBS is unprepared for the coming onslaught of new and more effective therapies necessary early in life, states the article. “Modernization of the entire NBS system seems unavoidable.

The two most strongly-endorsed solutions considered by the experts were to 1) establish mechanisms for cross-state data coordination for provisional disorders; and 2) create a network of regional screening labs. Additional ideas that also received widespread support among the experts were aligning programs across federal agencies, expanding funding for research, expanding funding to states, building capacity to identify genetic variants and an associated clinical database, and conducting surveillance to study long-term outcomes.

Read the complete article.

Source

This article summarizes the research publication by 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

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