If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health, catching rare but serious conditions before symptoms appear and giving families a head start on care. Now, genomic newborn screening, which includes whole genome sequencing, is poised to take this life-saving work further by screening for hundreds of genetic conditions at birth and changing the standard of care.
FROM RESEARCH TO REAL-WORLD IMPACT
The GUARDIAN study is pioneering genomic newborn screening in New York City. As the largest genomic newborn screening program of its kind in the U.S., GUARDIAN has shown how many more conditions can be diagnosed with early genomic screening. Researchers at Boston Children’s Hospital, the New York State public health laboratory, Columbia University, and New York-Presbyterian have screened more than 15,000 newborns. Research published last fall from the first 4,000 newborns found that more than 3% of those babies received an actionable diagnosis. This unlocked opportunities for treatment and care long before symptoms would appear.
The Wall Street Journal recently highlighted this work to end the diagnostic odyssey, including the story of Lili Hasse and her daughter Margot, from the GUARDIAN study. Diagnosed through GUARDIAN as an infant with CDKL5 deficiency disorder—a condition that causes seizures and developmental delays—Margot was able to see a specialist right away and connect with a support group. While many families face years before receiving an answer, Margot’s early diagnosis meant timely treatment. Today, thanks to medications, supplements, diet, and therapy, she has near complete seizure control, and emerging gene therapies may offer even more hope.
The difference is striking: Conditions we typically diagnose on average seven to 11 years later were identified close to birth. That means faster answers, less uncertainty, and more intervention opportunities. Beyond the data, we’ve seen the power of early testing to help doctors make better decisions, connect families with clinical trials, and ensure equity so that every baby, no matter their background, can benefit.
STATE AND FEDERAL PROGRESS: A TURNING POINT
In a time when so many issues divide us, genomic newborn screening offers common ground. Leaders from across the political spectrum are taking action to ensure children can have the healthiest possible start, with bills being introduced at the state and federal level. This shared commitment is fueling progress across states, health systems, research institutions, and our nation.
This summer, Florida passed the Sunshine Genetics Act, establishing the nation’s first state-run genomic newborn screening program. By expanding access, investing in education, and ensuring that genomic screening reaches every community, Florida is sending a clear message: The future of newborn screening is here. And with New York continuing to lead in research through GUARDIAN, we’re seeing proof that genomic newborn screening is both scalable and impactful.
The National Institutes of Health (NIH) recently announced a $14.4 million grant from the Common Fund Venture Program for BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), which will be the is the first multi-state initiative in the U.S. to integrate whole genome sequencing into public health newborn screening. The program will enroll up to 30,000 newborns across as many as 10 states, further building upon the momentum of GUARDIAN, Sunshine Genetics, and other research that is showcasing the power of an actionable genetic diagnosis at birth.
LOOKING AHEAD
A diagnosis in the first days of life can mean access to targeted treatments, better care planning, and peace of mind for families. It can save years of uncertainty and transform lives. I see the benefits of early diagnosis every day in my work at GeneDx. Every child that is tested using this technology strengthens our knowledge base, helping us provide even more precise answers for the next child and family.
September was Newborn Screening Awareness Month, serving as a reminder of what’s possible when science, policy, the private sector, and patient advocacy come together. The tools are here. The evidence is clear. And with collaboration across stakeholders, genomic newborn screening can become the standard of care for every newborn in America.
Britt Johnson, PhD, FACMG, is head of medical affairs at GeneDx.