Thought Leadership

Rightsizing the U.S. Newborn Screening System

By: Leslie Meltzer, Ph.D., Chief Medical Officer at Orchard Therapeutics, a company member of the Rare Disease Company Coalition

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. 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.

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). 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. 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. 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.

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