A recent study has demonstrated that DNA analysis significantly outperforms traditional newborn screening methods, detecting a greater number of preventable and treatable serious health conditions. The research, known as GUARDIAN, is one of the first large-scale investigations to employ genome sequencing for newborn screening and has released its preliminary findings.
“The results indicate that genome sequencing has the potential to revolutionize children’s medical care,” stated Dr. Joshua Milner, a professor of Pediatrics and director of Allergy/Immunology and Rheumatology at Columbia University Vagelos College of Physicians and Surgeons, and a co-author of the study. “This method enables us to identify serious health threats early on, allowing us to take preventive measures for a substantial number of children, rather than just a few isolated cases.”
Genome sequencing involves analyzing a newborn’s DNA to identify hundreds of specific gene variants linked to diseases. This advanced technology can detect thousands of genetic disorders, far exceeding the approximately 60 conditions identified by standard newborn screening. Early detection can be crucial for diseases that are preventable or treatable if caught in infancy.
In the GUARDIAN study, which included 4,000 newborns, genome sequencing identified 120 infants (3%) with serious health conditions, while only 10 cases were flagged by conventional screening. Notably, one child benefited from the early identification of a rare gene variant responsible for a severe immunodeficiency disorder, ultimately leading to a lifesaving bone marrow transplant.
Dr. Wendy Chung, the study’s principal investigator and chief of pediatrics at Boston Children’s Hospital, emphasized the importance of genomic technology in improving diagnostic timelines for patients with unexplained symptoms. “Families and pediatricians no longer need to endure prolonged diagnostic odysseys. We can now make crucial diagnoses at birth,” she said.
Approximately 1 in every 300 newborns in the United States is diagnosed with a treatable condition identified through standard newborn screening, a practice that has evolved since its introduction in the 1960s. Currently, the Health Resources and Services Administration recommends screening for up to 63 conditions, although the actual screening panel varies by state.
“Newborn screening is one of public health’s greatest achievements, ensuring that all babies receive equal opportunities for a healthy life,” said Dr. Jordan Orange, chair of pediatrics at Columbia University Vagelos College of Physicians and Surgeons and a co-author of the study. Traditional newborn screening detects biomarkers in blood for various conditions; however, many diseases remain undetectable due to the lack of identified blood biomarkers.
With advancements in genome sequencing, which has become more accessible and affordable, there is growing recognition of its utility in identifying genetic conditions in children. Dr. Milner noted, “We are amidst a revolution in pediatric medicine, realizing that many more conditions have genetic roots, and can indeed be treated.”
The GUARDIAN study aims to identify gene variants linked to over 450 conditions, with new conditions added annually. Dr. Orange pointed out that while standard testing would be prohibitively costly for all these diseases, genomic screening incurs minimal additional costs for each condition added.
Initiated in September 2022, the GUARDIAN study has offered genome sequencing to every newborn at NewYork-Presbyterian hospitals in New York City. In its first year, the study screened for 156 rare but treatable conditions, with parents also given the option to include an additional 99 conditions lacking current treatments, though early intervention may still be beneficial.
The study collects DNA from dried blood spots taken at birth, which are analyzed by the New York State Department of Health’s Newborn Screening Program. Preliminary findings published in the Oct. 24 issue of JAMA reveal that out of 147 children who screened positive, 120 were diagnosed with rare conditions—only 10 of which were detected through standard methods.
Most of the diagnosed children (92 out of 120) were found to have glucose-6-phosphate dehydrogenase deficiency (G6PD), a condition not included in traditional screening that can lead to serious reactions if triggered by certain foods or medications. Additionally, genome sequencing identified a child with severe combined immunodeficiency disorder (SCID), allowing for early intervention that is critical for successful treatment.
Overall, 3.7% of the children screened positive for genetic conditions; excluding G6PD cases, the rate was 0.6%, double the 0.3% detected through standard New York state screening. Dr. Milner noted that this figure could increase as more conditions are added to the screening list.
Parents displayed a strong willingness to participate in genomic screening, with 72% of families approached agreeing to enroll, and 90% opting for the additional screening of untreatable conditions.
The GUARDIAN study aims to enroll 100,000 babies over the coming years to explore parental perceptions of genome sequencing, the associated costs, privacy issues, and the challenges of interpreting results across diverse ancestry groups.
Scaling up genome sequencing will inevitably raise screening costs. If the GUARDIAN approach were implemented for the 210,000 annual births in New York state, an estimated 7,700 children would screen positive. As the number of positive screenings increases, so too would the need for follow-up testing.
Dr. Milner emphasized the importance of weighing these costs against the potential expenses associated with untreated conditions that could have been identified earlier. “Ultimately, it’s a question of funding,” he said. “The ability of genomic screening to detect a broader range of conditions and save lives may justify the additional costs involved.”
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