In the first 24 to 48 hours of a baby’s life, a small blood sample is taken to detect serious genetic conditions, some of them deadly, that can be treated if diagnosed early.¹ Thanks to newborn screening (NBS), a critical public health program that screens about 4 million babies a year in the U.S., parents have the opportunity for timely diagnosis, medical guidance, and disease intervention for their babies.

This NBS Awareness Month, advocates in the field, while praising the system for its many accomplishments and lives saved, are also raising red flags about its capacity to handle the coming wave of innovative gene and cell therapies approaching regulatory approval in the U.S. These therapies can bring hope to families facing rare genetic conditions, but for many of these disorders diagnosis as early as possible is often critical to successful intervention – making newborn screening crucial.²

The NBS system needs modernization.

In the last 15 years, only six conditions were added to the Federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommended Uniform Screening Panel (RUSP).³ On average, it takes approximately six years from the time a condition is nominated until it is added to the RUSP, if it is included at all. Even if added to the RUSP, screening in all 50 states can take up to a decade. For example, SCID was added to the RUSP in 2010; however, the condition was included on the first state panel in 2008 but was not added to all state panels until 2018.⁴ That means a baby born in one state can have the advantage of diagnosis, medical guidance, and treatment for an addressable genetic condition, while a baby born over the state line may face disability or early death for lack of testing.

More than 60 new gene therapy treatments – many for serious and rare conditions in children – are expected by 2030.⁵ This is therefore the right moment to look carefully at NBS capacities and screening implementation timelines with an eye on what is coming in terms of new therapies. An innovation in rare disease therapy almost always requires timely diagnosis and medical guidance in order for patients to benefit from therapy.

While long-term stakeholder alignment, horizon scanning and modernization are necessary to ensure the U.S. NBS system can keep pace with innovation, we have near-term opportunities to make positive improvements:

• Streamlining state adoption. Each state runs its own NBS program and has a unique process for adding new conditions to its panel. Advocates are advancing efforts to ensure states can be responsive to the addition of new RUSP conditions and the advocacy of the rare disease community. Arizona⁶, California⁷, Florida⁸, Georgia⁹ and Ohio¹⁰ have led the way on legislation that sets minimum standards for timelines and funding for the implementation of RUSP conditions while still allowing advocates to request inclusion of additional conditions that meet state criteria but may not yet be included on the RUSP. This is an important step toward equitably screening more babies, faster. But many states are hesitant for fear of overwhelming already underfunded and overworked public health labs. Solutions can’t work without funding.
• Supporting investment in public health infrastructure. A study published by the Association of Public Health Laboratories’ NewSTEPs program identified staffing and equipment as the notable barriers for state NBS programs and state labs to begin screening for RUSP-recommended conditions.¹¹ To offer increased guidance and funding, a coalition of stakeholders is advocating for federal lawmakers to direct $15 million in appropriations to the Centers for Disease Control and Prevention to support states in timely implementation of newborn screening to help avoid preventable disability or death.¹²
• Reauthorization of existing laws. Legislation that ensures various components of the NBS system remain funded and operational originally passed in 2008. The Newborn Screening Saves Lives Reauthorization Act supports the federal process to review new conditions for nomination to the RUSP and provides continued support for improvement, education, and assistance to state programs.¹³ The U.S. House of Representatives has passed the reauthorization, but the bill needs urgent, immediate attention in the Senate to allow the NBS program to continue its life-saving work.

Newborn screening has improved and even saved the lives of countless children across the U.S. It is critical that this system is robust and able to accommodate transformative technologies that offer new ways to treat addressable genetic conditions that once were thought to be untreatable. We need to act together, now, to prepare this important screening system to continue to advance, expand, and support children and the families that love them.

Leslie Meltzer, Ph.D. serves as the Chief Medical Officer at Orchard Therapeutics.

¹ https://www.cdc.gov/nbslabbulletin/bulletin.htm
² Gray, Steven J. “Timing of Gene Therapy Interventions: The Earlier, the Better.” Molecular therapy: the journal of the American Society of Gene Therapy vol. 24,6 (2016): 1017-1018. doi:10.1038/mt.2016.20
³ https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/previous-nominations.html
⁴ https://scidcompass.org/news/all-50-states-now-screening-newborns-severe-combined-immunodeficiency-scid
⁵ https://newdigs.mit.edu/sites/default/files/NEWDIGS-Research-Brief-2020F207v51-PipelineAnalysis.pdf
⁶ https://legiscan.com/AZ/text/SB1680/2021
⁷ https://leginfo.legislature.ca.gov/faces/billNavClient.xhtml?bill_id=201520160SB1095
⁸ https://www.flsenate.gov/Session/Bill/2017/1124/BillText/er/PDF
⁹ https://legiscan.com/GA/bill/HB567/2021
¹⁰ https://www.legislature.ohio.gov/legislation/legislation-summary?id=GA134-HB-110
¹¹ Kellar-Guenther Y, McKasson S, Hale K, Singh S, Sontag MK, Ojodu J. Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences. Int J Neonatal Screen. 2020;6(2):35. Published 2020 Apr 30. doi:10.3390/ijns6020035
¹² ALD Alliance Letter to Congress: https://otl.box.com/s/njue7838jrpsgu3f58jevqhi37hojbig
¹³ https://www.congress.gov/bill/117th-congress/house-bill/482/text?r=5&s=1