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The content below is adapted on a paper originally published in May 2022 in Molecular Diagnosis & Therapy.

The era of precision medicine relies on molecular diagnostics and therapies to accurately diagnose and effectively treat health conditions. A window of opportunity exists to modernize universal newborn screening (NBS) within the context of precision medicine. Genetic sequencing could provide a single platform for identifying hundreds of genetic disorders (35). And new transformative treatments, such as cell therapies, gene therapy, and gene editing, can address the underlying cause of a condition and have the potential to be curative or substantially disease-altering. These new therapies bring tremendous hope for both common and rare disorders and are anxiously awaited by parents of affected children.

What is newborn screening?

Newborn screening identifies health conditions in the presymptomatic stage to maximize the effectiveness of early life treatment to prevent morbidity and reduce or eliminate mortality. Sixty years ago, there was no such thing as NBS; today, every state operates a comprehensive NBS program. Although strides have been made, the current newborn screening infrastructure is not prepared to handle a rapid expansion of new screen technologies or approved therapeutics. This can hinder the opportunity for families to have access to treatments that can significantly improve health outcomes and quality of life for their infants.

Why does newborn screening need to be “modernized?”

Newborn screening is the only viable mechanism to ensure universal identification of rare health conditions that need urgent and early treatment in newborns. As a result, there is an ever-growing demand for NBS—from parents, clinicians, and industry—to expand quickly. The question is not if newborn screening needs to be modernized to keep up with demand, but how— and how quickly. In fact, this current state presents a “perfect window” to reimagine the future of newborn screening, with an opportunity to emphasize how it can fit into the larger framework of precision medicine.

Five Ways to Modernize Newborn Screening

Many solutions for modernization are possible, but they vary in the extent to which they can truly impact the NBS system and whether they are feasible, acceptable, scalable, and sustainable. Modernizing the newborn screening system will require significant strategic planning, buy-in from multiple stakeholders, data-informed decision making, and resources.

Based on findings from recent studies (1,2) I believe five ways we should modernize newborn screening to prepare for an envisioned future of screening include:

  1. Building systems that allow for more rapid collection and integration of data relevant to NBS
  2. Establishing a national network of NBS research centers to design and conduct prospective research studies addressing critical NBS questions
  3. Creating a network of regional NBS laboratories to expedite state implementation of new methodologies or screening for newly recommended conditions
  4. Establishing a new stream of federal funding to provide financial support for states and incentivize national harmonization
  5. Integrating solutions in a way that is strategic and effective.

The suggestions above are intended to serve as the basis for national discussion and debate to help advance NBS modernization in a constructive way. Additional details for each strategy are outlined below and are more comprehensively covered in this paper.


Newborn screening is at a critical point in its evolutionary history. There is a window of opportunity to envision a desired future state and then do the hard work needed to achieve it. Change will be difficult, but the need is immediate for the potential benefits of precision medicine to be realized by children, families, and the providers who care for them. NBS must become more nimble and adaptable, with robust systems that can collect the data needed to inform policy and enhance states’ capacity to add new conditions more quickly.

This blog was adapted from a larger paper published in published in May 2022 in Molecular Diagnosis & TherapyView the full paper here.

Learn more about RTI’s newborn screening research and precision medicine capabilities.

Disclaimer: This piece was written by Don Bailey (Distinguished Fellow, Genomics and Translational Research Center) to share perspectives on a topic of interest. Expression of opinions within are those of the author or authors.