Nearly every one of the 3.7 million babies born each year in the United States is screened for congenital disorders through mandated tests that vary in number across states and territories.
Efforts to identify genetic conditions before the onset of clinical manifestations began 60 years ago with a test for phenylketonuria, a rare inherited disorder that, without treatment, causes irreversible brain damage. The list of recommended screening tests has grown over the years, driven by the medical community’s goal of identifying problems in the first days of life so treatments that may improve health and decrease infant mortality can be rapidly implemented.
At present, a federal review committee recommends 37 genetic disorders be included in state-run universal newborn screening programs. But screening is only the first step toward improving health outcomes for those newborns with congenital illnesses. Providing consistent, timely and effective care requires the support and coordination of families, clinicians, health care facilities, public health, community services and regional/national organizations.
The complexity of these efforts begs for expert guidance and oversight, but we lack a system for doing so. This is increasingly important because technological advancements in detecting and treating diseases are leading researchers and clinicians around the world to advocate for adding even more tests to universal newborn screening programs.
To address these challenges, in 2023 Congress directed the Department of Health and Human Services’ Office on Women’s Health to commission a study with the National Academies to identify key actions at the state and federal level that could strengthen and modernize this essential program. This important assessment by the National Academies is currently ongoing and it involves key stakeholders such as families, researchers, public health officials and clinicians.
Perhaps most important is ensuring access to needed care. An analysis of more than 130 million births between 1959 and 1995 showed substantial declines in infant mortality when states implemented newborn screening in combination with Medicaid access. Universal newborn screening alone likely saved very few lives per year and had virtually no impact on mortality among Black babies. Medicaid improved treatment of a myriad of diseases, especially for Black babies, and the combination of newborn screening and Medicaid reduced racial inequality. This suggests that newborn screening can dramatically improve pediatric outcomes when implemented in conjunction with measures that increase health care access for all children.
These data should be kept in mind as we consider big changes on the horizon for universal newborn screening. Several experts are studying incorporation of genetic sequencing as part of newborn screening, which is likely to be one of the biggest transformations of pediatric health care in generations. The knowledge gleaned from genomic data could lead to development of new drugs and treatments and provide long-term benefits, including early identification of pediatric diseases as well as adult-onset conditions, such as cancer and cardiovascular disease.
While newborn sequencing is currently only at the research stage, the implementation of screening for spinal muscular atrophy, or SMA, from 2018 to 2023 is a useful case study. An infant who is identified at risk for SMA is quickly referred for genetic testing to diagnose and direct precision therapies. These therapies are life changing, but they are expensive, need to be administered quickly and usually require funding and approval from Medicaid or other insurers.
Experts anticipate screening for hundreds or even thousands of conditions within the next 10 years using universal newborn sequencing. This will require coordination between public health and clinical care in new ways as the number of children needing treatment, monitoring, and ongoing care — immediately and in the future — increases exponentially.
When considering this likelihood, it is critical to remember the lessons learned from conventional newborn screening. Universal access to care — Medicaid, for all those not otherwise insured — has been necessary for universal newborn screening to achieve substantial improvements in pediatric health. This argues that to effectively improve pediatric health in the United States, universal newborn sequencing will require universal access to health care for children.
Traditional newborn screening was built on a simple, yet transformative idea: screen all children. New genetic tests and genomic technologies point to the next evolution of this idea: care for all children.
We believe that the expansion of genetic testing and emergence of universal newborn sequencing represents a call and a unique opportunity for the United States to achieve the best pediatric health outcomes among the world’s industrialized nations. The hope is that we will respond to this call with universal care for the good of all our children, their families and our communities.
Luca Brunelli is a professor in the Department of Pediatrics (Neonatology) at the University of Utah. Heeju Sohn is an assistant professor in the Department of Sociology at Emory University. Amy Brower is a researcher/geneticist at the American College of Medical Genetics and Genomics.